Publications by authors named "Gary F Sholler"

56 Publications

Selective serotonin reuptake inhibitor or serotonin-norepinephrine reuptake inhibitors and epidemiological characteristics associated with prenatal diagnosis of congenital heart disease.

Prenat Diagn 2021 Jan 3;41(1):35-42. Epub 2020 Nov 3.

Westmead Institute for Maternal and Fetal Medicine, Women's and Newborn Health, Westmead Hospital, Westmead, New South Wales, Australia.

Objective: Identify early pregnancy associations of congenital heart disease (CHD) in a multiethnic cohort.

Methods: This retrospective observational cohort study compared the general obstetric population to women who gave birth at a referral centre in Australia between 2012 and 2017, after 20 weeks' of gestation, with a pregnancy affected by CHD. We defined mood disorder and anxiety as a history of self-reported or medically diagnosed anxiety, depression, postpartum depression or bipolar disorder.

Results: We compared epidemiological factors between 30 842 general obstetric patients and 470 obstetric patients with a foetus affected by CHD. Multivariate analysis showed independent associations between CHD and use of selective serotonin reuptake inhibitors (SSRIs) or serotonin-norepinephrine reuptake inhibitors (SNRIs) in the first trimester (relative risk [RR] 4.14, 95% CI 2.58-6.65), history of anxiety or mood disorder with no SSRI/SNRI first trimester (RR 2.20, 95% CI 1.77-2.74), folate and/or pregnancy multivitamin use in the first trimester (RR 0.69, 95% CI 0.55-0.87) and increased risk with maternal age >40 years (RR 2.30, 95% CI 1.57-3.38).

Conclusions: Our data show maternal mood disorders with and without SSRI or SNRI use, maternal age >40 years and lack of multivitamin/folate use to be independently associated with CHD in pregnancy.
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http://dx.doi.org/10.1002/pd.5846DOI Listing
January 2021

Current Practice of Genetic Testing and Counselling in Congenital Heart Disease: An Australian Perspective.

Heart Lung Circ 2020 Nov 29;29(11):1733-1736. Epub 2020 Aug 29.

Heart Centre for Children, The Children's Hospital at Westmead, Sydney, NSW, Australia; Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hlc.2020.07.013DOI Listing
November 2020

Health-Related Quality of Life in Children, Adolescents, and Adults With a Fontan Circulation: A Meta-Analysis.

J Am Heart Assoc 2020 03 16;9(6):e014172. Epub 2020 Mar 16.

Heart Centre for Children The Children's Hospital at Westmead Sydney New South Wales Australia.

Background People with a Fontan circulation experience a range of physical, psychosocial and neurodevelopmental challenges alongside, or caused by, their cardiac condition, with significant consequences for health-related quality of life (HRQOL). We meta-analyzed HRQOL outcomes reported by people with a Fontan circulation or their proxies and evaluated predictors of poorer HRQOL. Methods and Results Six electronic databases were searched for peer-reviewed, English-language articles published before March 2019. Standardized mean differences (SMD) were calculated using fixed and random-effects models. Fifty articles reporting on 29 unique studies capturing HRQOL outcomes for 2793 people with a Fontan circulation and 1437 parent-proxies were analyzed. HRQOL was lower in individuals with a Fontan circulation compared with healthy referents or normative samples (SMD, -0.92; 95% CI, -1.36 to -0.48; <0.001). Lower scores were reported across all HRQOL domains, with the largest differences found for physical (SMD, -0.90; 95% CI, -1.13 to -0.67; <0.001) and school/work functioning (SMD, -0.71; 95% CI, -0.90 to -0.52; <0.001). Meta-regression analyses found no significant predictors of self-reported physical functioning, but older age at Fontan operation was associated with poorer emotional functioning (β=-0.124; =0.004), and diagnosis of hypoplastic left heart was associated with poorer social functioning (β=-0.007; =0.048). Sensitivity analyses showed use of the PedsQL Core Module was associated with lower HRQOL scores compared with the Short-Form Health Survey-36. Conclusions HRQOL outcomes for people with a Fontan circulation are lower than the general population. Optimal care acknowledges the lifelong impact of the Fontan circulation on HRQOL and offers targeted strategies to improve outcomes for this growing population.
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http://dx.doi.org/10.1161/JAHA.119.014172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335513PMC
March 2020

Outcomes of the Fontan Operation for Patients With Heterotaxy: A Meta-Analysis of 848 Patients.

Ann Thorac Surg 2020 07 8;110(1):307-315. Epub 2020 Jan 8.

Faculty of Health and Medicine, Sydney Medical School, University of Sydney, Sydney, Australia; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia. Electronic address:

Background: Heterotaxy is considered a risk factor for adverse events at all stages in the pre-Fontan pathway, and Fontan outcomes are expected to be worse in patients with heterotaxy. The aim of this study was to review existing literature reporting outcomes of the Fontan operation systematically in patients with heterotaxy.

Methods: A systematic review and meta-analysis was performed to identify and synthesize early mortality and medium- and long-term survival in heterotaxy patients after the Fontan procedure. Subsequent outcome analyses were stratified by study period era, cohort size, and proportion of right versus left atrial isomerism to explore predictors of outcome.

Results: A total of 21 studies were included for analysis, which were composed of 848 post-Fontan heterotaxy patients. Early mortality varied between 1% and 30% with a weighted event rate of 14% (95% confidence interval [CI], 10%-19%). Survival at 1, 5, and 10 years was 86% (95% CI, 79%-91%), 80% (95% CI, 71%-87%), and 74% (95% CI, 59%-85%), respectively. Stratification by study period highlighted that studies with a median study period year of 1995 or later had similar early mortality and 1- and 5-year survival, but superior 10-year survival (P = .02) compared with earlier studies. Stratification by cohort size and right versus left atrial isomerism did not reveal subgroup differences.

Conclusions: Compared with existing literature, in patients with heterotaxy, early mortality after Fontan is higher than for the overall Fontan population. Long-term survival is comparable to the overall Fontan cohort. When heterotaxy patients are successfully transitioned to Fontan, subsequent survival is acceptable and predictable. Long-term follow-up is lacking.
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http://dx.doi.org/10.1016/j.athoracsur.2019.11.027DOI Listing
July 2020

Heterotaxy Is Not a Risk Factor for Adverse Long-Term Outcomes After Fontan Completion.

Ann Thorac Surg 2020 08 28;110(2):646-653. Epub 2019 Dec 28.

Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Faculty of Health and Medicine, Sydney Medical School, Discipline of Child and Adolescent Health, University of Sydney, Sydney, Australia; Sydney Children's Hospital Network Cardiac Services, Sydney, Australia. Electronic address:

Background: Heterotaxy is considered a risk factor for poor outcomes after the Fontan operation. However, long-term data to support this notion are lacking. The aims of this study were to ascertain the long-term outcomes of patients with heterotaxy after hospital discharge after Fontan completion and to compare these outcomes with those of a contemporary nonheterotaxy cohort.

Methods: A binational Fontan registry (n = 1540) was analyzed to identify patients with heterotaxy and compare them with patients without heterotaxy. The primary composite end point was Fontan failure, encompassing death, heart transplantation, Fontan takedown or conversion, protein-losing enteropathy, plastic bronchitis, or New York Heart Association functional class III or IV.

Results: A total of 109 patients with heterotaxy were identified and they were compared with 1431 nonheterotaxy patients after Fontan completion. There was no difference in unadjusted 15-year freedom from Fontan failure (heterotaxy, 78% vs nonheterotaxy, 85%; P = .2). Patients in the heterotaxy group had a significantly higher cumulative incidence of post-Fontan arrhythmias (P < .001). Propensity-score matching for confounders yielded 73 patients with heterotaxy matched with 439 patients without heterotaxy, in whom 15-year freedom from Fontan failure was also not different (heterotaxy, 76% vs nonheterotaxy, 81%; P = .2). There was no difference in 15-year freedom from Fontan failure in patients with right vs left isomerism (right isomerism, 80% vs left isomerism, 76%; P = .7).

Conclusions: Although heterotaxy may complicate the pre-Fontan course, once the Fontan procedure is successfully completed, heterotaxy does not appear to be an important risk factor for Fontan failure. Patients with heterotaxy are at a higher risk of post-Fontan arrhythmias compared with patients without heterotaxy.
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http://dx.doi.org/10.1016/j.athoracsur.2019.11.015DOI Listing
August 2020

Impact of High-Risk Characteristics in Hypoplastic Left Heart Syndrome.

World J Pediatr Congenit Heart Surg 2019 07;10(4):475-484

1 Heart Centre for Children, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.

Background: Management of hypoplastic left heart syndrome (HLHS) presents many challenges. We describe our institutional outcomes for management of patients with HLHS over the past 12 years and highlight our strategy for those with highly restrictive/intact interatrial septum (R/I-IAS).

Methods: Eighty-eight neonates with HLHS underwent surgical treatment, divided equally into Era-I (n = 44, April 2006 to February 2013) and Era-II (n = 44, March 2013 to June 2018). Up to 2013, all patients with R/I-IAS were delivered at an adjacent adult hospital and then moved to our hospital for intensive care and management. From 2014, these patients were delivered at a co-located theatre in our hospital with immediate atrial septectomy. The hybrid approach was occasionally used with preference for the Norwood procedure for suitable candidates.

Results: One-year survival after Norwood procedure was 62.5% and 80% for Era-I and Era-II ( = not significant (ns)), respectively, and 41% of patients were categorized as high risk using conventional criteria. Survival at 1 year differed significantly between high-risk and standard-risk patients ( = 0.01). For high-risk patients, survival increased from 42% to 65% between eras ( = ns). In the R/I-IAS subgroup (n = 15), 11 underwent Norwood procedure after emergency atrial septectomy. Of these, seven born at the adjacent adult hospital had 40% survival to stage II versus 60% for the four born at the colocated theatre. Delivery in a colocated theatre reduced the birth-to-cardiopulmonary bypass median time from 445 (150-660) to 62 (52-71) minutes.

Conclusion: Reported surgical outcomes are comparable to multicenter reports and international databases. Proactive management for risk factors such as R/I-IAS may contribute to improved overall outcomes.
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http://dx.doi.org/10.1177/2150135119852319DOI Listing
July 2019

Psychological interventions for people affected by childhood-onset heart disease: A systematic review.

Health Psychol 2019 Feb;38(2):151-161

Faculty of Medicine, The University of New South Wales.

Objective: Guidelines recommend psychological intervention for children, adolescents, and adults with childhood-onset heart disease and their families, yet a comprehensive review of interventions is lacking. We aimed to determine the efficacy of psychological interventions for this population.

Method: We searched 6 electronic databases until August, 2017 for English-language, controlled trials of psychological interventions for children, adolescents, or adults with congenital heart disease, inherited arrhythmias, or cardiomyopathies, or their family members. Outcomes of interest included: anxiety, depression, psychological stress and distress, health-related quality of life, coping and adjustment, developmental outcomes, physical health, and parent and family outcomes.

Results: Of 7,660 identified articles, 11 articles reporting on 9 unique interventions met inclusion criteria. Four interventions included adolescents or adults with congenital heart disease, 2 of which also included individuals with cardiomyopathies, valvular heart conditions, or inherited arrhythmias. Five interventions targeted parents, predominantly mothers, of children with congenital heart disease. Clinical and methodological diversity was observed across trials. Parent-focused interventions demonstrated some improvements in maternal mental health, including anxiety and worry, coping, and family functioning. Evidence for the efficacy of interventions for adolescents and adults was limited. Most trials (8/9) were at "high" or "serious" risk of bias.

Conclusions: Despite an established evidence-base for psychological interventions in other chronic illness populations, evidence of efficacy for children and adults with childhood-onset heart disease and their families was limited. Interventions using conceptual frameworks tested in methodologically robust trials are needed to enhance the provision of mental health care for people of all ages with childhood-onset heart disease. (PsycINFO Database Record (c) 2019 APA, all rights reserved).
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http://dx.doi.org/10.1037/hea0000704DOI Listing
February 2019

School-Age Developmental and Educational Outcomes Following Cardiac Procedures in the First Year of Life: A Population-Based Record Linkage Study.

Pediatr Cardiol 2019 Mar 10;40(3):570-579. Epub 2018 Dec 10.

Child Population Health Research, Westmead Clinical School, The Children's Hospital, The University of Sydney, Sydney, NSW, Australia.

The purpose of the study was to evaluate school-age developmental and educational outcomes for children with and without a cardiac procedure in the first year of life to improve understanding of longer-term neurodevelopmental outcomes in children who have had a cardiac procedure for congenital heart disease, the most common serious congenital anomaly. A population-based cohort study using record linkage of state-wide data was undertaken, evaluating children born in New South Wales, Australia, 2001-2007. Those with and without a cardiac procedure in the first year of life with a linked developmental (Australian version Early Development Instrument testing result, age 4-6 years) and/or educational outcome (Australian National Assessment Program result, age 7-9 years) were included. Perinatal, perioperative and sociodemographic factors were examined using multivariable logistic regression models. Of 468,329 eligible children, 768 had a cardiac procedure in the first year of life and 582 were included. For those with a cardiac procedure and developmental outcome (n = 260), 13.1% were classified as having 'special needs' compared to 4.4% without a cardiac procedure. Of those with an educational outcome, after adjusting for perinatal, perioperative and demographic variables, children with a cardiac procedure (n = 396) were twice as likely to score below National Minimum Standard in school literacy and numeracy tests compared to their peers. Significant predictors included low birthweight, parent not completing school and having > 4 re-hospitalisations in their first six years. The developmental and educational trajectory of children who have had a cardiac procedure in their first year remains altered into primary school years. While perioperative factors did not impact outcomes, ongoing health and sociodemographic factors were important in identifying those children at greatest risk.
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http://dx.doi.org/10.1007/s00246-018-2029-yDOI Listing
March 2019

Need for Routine Screening of Health-Related Quality of Life in Families of Young Children with Complex Congenital Heart Disease.

J Pediatr 2019 02 23;205:21-28.e2. Epub 2018 Oct 23.

Discipline of Pediatrics, School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney, NSW, Australia; Heart Center for Children, The Sydney Children's Hospitals Network (Westmead and Randwick), Sydney, NSW, Australia. Electronic address:

Objectives: To assess health-related quality of life (HRQOL) in families of young children with complex congenital heart disease (CHD), and identify the demographic, clinical, and psychosocial factors that place these children and their mothers at greater risk of vulnerability.

Study Design: This cross-sectional study took place from June 2015 to October 2016 at The Sydney Children's Hospitals Network Cardiac Service, Australia. Mothers of a child aged 1-5 years with either single ventricle CHD or CHD requiring neonatal biventricular repair were invited to participate. Eighty-seven mothers completed a suite of validated measures, including the Pediatric Quality of Life Inventory, which assessed the outcomes of child and maternal HRQOL.

Results: Sixty percent of children with single ventricle CHD and 25% of children with biventricular repair had total Pediatric Quality of Life Inventory scores within the at-risk range. Lower child HRQOL was strongly associated with single ventricle CHD (β = -0.38; P < .001), physical comorbidity (β = -0.32; P = .001), feeding difficulties (β = -0.26; P = .008), and greater maternal psychological stress (β = -0.18; P = .045), accounting for 52% of the variance in child HRQOL. Lower maternal HRQOL was strongly associated with poorer family functioning (β = 0.61; P < .001), greater maternal psychological stress (β = -0.23; P = .004), child physical comorbidity (β = -0.17; P = .01), and a 'difficult' child temperament (β = -0.14; P = .01), accounting for 73% of the variance in maternal HRQOL.

Conclusions: Lower HRQOL is common in young children with complex CHD, particularly single ventricle CHD. Several predictors of HRQOL are potentially modifiable, offering possible pathways for prevention and early intervention. Routine screening is a necessary first step toward developing models of care to improve HRQOL in this population.
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http://dx.doi.org/10.1016/j.jpeds.2018.09.037DOI Listing
February 2019

Two Ventricles Are Not Better Than One in the Fontan Circulation: Equivalent Late Outcomes.

Ann Thorac Surg 2019 03 6;107(3):852-859. Epub 2018 Oct 6.

Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; School of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, Australia. Electronic address:

Background: A subset of patients who underwent Fontan operations has two adequate-sized ventricles, but an anatomic biventricular circulation cannot be achieved because of complex morphology or for technical reasons. This study sought to determine whether these patients with two-ventricle Fontan circulation had superior outcomes compared with those with a single ventricle.

Methods: A binational Fontan Registry of patients (n = 1,377) was analyzed to identify those patients with two adequate ventricles. This cohort was compared with patients with single-ventricle Fontan circulation. The primary end point was a composite end point called "Fontan failure" encompassing death, heart transplantation, Fontan takedown or conversion, protein-losing enteropathy, plastic bronchitis, or New York Heart Association functional class III or IV.

Results: A total of 79 Fontan patients with two adequate ventricles (2V) were compared with 1,291 single ventricle (1V) Fontan patients. Median follow-up for the entire cohort was 11.5 years (interquartile range, 5.1 to 18.8 years). There was no difference in unadjusted 15-year freedom from Fontan failure (2V: 81% [95% confidence interval (CI), 69% to 94%] vs 1V: 86% [95% CI, 83% to 88%], p = 0.4). Propensity-score matching for potential confounding factors yielded 75 two-ventricle Fontan patients matched with 604 single-ventricle Fontan patients, in which 15-year freedom from Fontan failure was also not different (2V: 79% [95% CI, 67% to 94%] vs 1V: 87% [95% CI, 84% to 91%], p = 0.3).

Conclusions: The two-ventricle Fontan circulation does not have better outcomes compared with the single-ventricle Fontan circulation. Late outcomes may depend more on other characteristics of the Fontan circulation. This finding is relevant when the Fontan procedure is being considered as an alternative to anatomic repair in patients with complex two-ventricle morphologies.
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http://dx.doi.org/10.1016/j.athoracsur.2018.08.024DOI Listing
March 2019

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.

Genet Med 2019 05 8;21(5):1111-1120. Epub 2018 Oct 8.

Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia.

Purpose: Congenital heart disease (CHD) affects up to 1% of live births. However, a genetic diagnosis is not made in most cases. The purpose of this study was to assess the outcomes of genome sequencing (GS) of a heterogeneous cohort of CHD patients.

Methods: Ninety-seven families with probands born with CHD requiring surgical correction were recruited for genome sequencing. At minimum, a proband-parents trio was sequenced per family. GS data were analyzed via a two-tiered method: application of a high-confidence gene screen (hcCHD), and comprehensive analysis. Identified variants were assessed for pathogenicity using the American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) guidelines.

Results: Clinically relevant genetic variants in known and emerging CHD genes were identified. The hcCHD screen identified a clinically actionable variant in 22% of families. Subsequent comprehensive analysis identified a clinically actionable variant in an additional 9% of families in genes with recent disease associations. Overall, this two-tiered approach provided a clinically relevant variant for 31% of families.

Conclusions: Interrogating GS data using our two-tiered method allowed identification of variants with high clinical utility in a third of our heterogeneous cohort. However, association of emerging genes with CHD etiology, and development of novel technologies for variant assessment and interpretation, will increase diagnostic yield during future reassessment of our GS data.
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http://dx.doi.org/10.1038/s41436-018-0296-xDOI Listing
May 2019

Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease.

Am Heart J 2018 07 5;201:33-39. Epub 2018 Apr 5.

Kids Heart Research, The Children's Hospital at Westmead, Sydney, Australia; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Sydney Medical School, University of Sydney, Sydney, Australia. Electronic address:

Background: Up to 20% of children with congenital heart disease (CHD) undergoing cardiac surgery develop neurodevelopmental disabilities (NDD), with some studies reporting persistent impairment. Recent large-scale studies have demonstrated shared genetic mechanisms contributing to CHD and NDD. In this study, a targeted approach was applied to assess direct clinical applicability of this information.

Methods: A gene panel comprising 148 known CHD and/or NDD genes was used to sequence 15 patients with CHD + NDD, 15 patients with CHD, and 15 healthy controls. The number and types of variants between the 3 groups were compared using Poisson log-linear regression, and the SNP-set (Sequence) Kernel Association Test-Optimized was used to conduct single-gene and gene-pathway burden analyses.

Results: A significant increase in rare (minor allele frequency < 0.01) and novel variants was identified between the CHD + NDD cohort and controls, P < .001 and P = .001, respectively. There was also a significant increase in rare variants in the CHD cohort compared with controls (P = .04). Rare variant burden analyses implicated pathways associated with "neurotransmitters," "axon guidance," and those incorporating "RASopathy" genes in the development of NDD in CHD patients.

Conclusions: These findings suggest that an increase in novel and rare variants in known CHD and/or NDD genes is associated with the development of NDD in patients with CHD. Furthermore, burden analyses point toward rare variant burden specifically in pathways related to brain development and function as contributors to NDD. Although promising variants and pathways were identified, further research, utilizing whole-genome approaches, is required prior to demonstrating clinical utility in this patient group.
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http://dx.doi.org/10.1016/j.ahj.2018.03.021DOI Listing
July 2018

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

Circ Genom Precis Med 2018 03;11(3):e001978

From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.).

Background: Congenital heart disease (CHD)-structural abnormalities of the heart that arise during embryonic development-is the most common inborn malformation, affecting ≤1% of the population. However, currently, only a minority of cases can be explained by genetic abnormalities. The goal of this study was to identify disease-causal genetic variants in 30 families affected by CHD.

Methods: Whole-exome sequencing was performed with the DNA of multiple family members. We utilized a 2-tiered whole-exome variant screening and interpretation procedure. First, we manually curated a high-confidence list of 90 genes known to cause CHD in humans, identified predicted damaging variants in genes on this list, and rated their pathogenicity using American College of Medical Genetics and Genomics-Association for Molecular Pathology guidelines.

Results: In 3 families (10%), we found pathogenic variants in known CHD genes , , and , explaining the cardiac lesions. Second, exomes were comprehensively analyzed to identify additional predicted damaging variants that segregate with disease in CHD candidate genes. In 10 additional families (33%), likely disease-causal variants were uncovered in , , , , , , , , , , and .

Conclusions: The pathogenesis of CHD could be explained using our high-confidence CHD gene list for variant filtering in a subset of cases. Furthermore, our unbiased screening procedure of family exomes implicates additional genes and variants in the pathogenesis of CHD, which suggest themselves for functional validation. This 2-tiered approach provides a means of (1) identifying clinically actionable variants and (2) identifying additional disease-causal genes, both of which are essential for improving the molecular diagnosis of CHD.
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http://dx.doi.org/10.1161/CIRCGEN.117.001978DOI Listing
March 2018

Long-Term Outcomes of Childhood Left Ventricular Noncompaction Cardiomyopathy: Results From a National Population-Based Study.

Circulation 2018 07;138(4):367-376

Department of Cardiology, Royal Children's Hospital (M.C., A.M.D., R.G.W.).

Background: Long-term outcomes for childhood left ventricular noncompaction (LVNC) are uncertain. We examined late outcomes for children with LVNC enrolled in a national population-based study.

Methods: The National Australian Childhood Cardiomyopathy Study includes all children in Australia with primary cardiomyopathy diagnosed before 10 years of age between 1987 and 1996. Outcomes for subjects with LVNC with a dilated phenotype (LVNC-D) were compared with outcomes for those with dilated cardiomyopathy. Propensity-score analysis was used for risk factor adjustment.

Results: There were 29 subjects with LVNC (9.2% of all cardiomyopathy subjects), with a mean annual incidence of newly diagnosed cases of 0.11 per 100 000 at-risk individuals. Congestive heart failure was the initial symptom in 24 of 29 subjects (83%), and 27 (93%) had LVNC-D. The median age at diagnosis was 0.3 (interquartile interval, 0.08-1.3) years. The median duration of follow-up was 6.8 (interquartile interval, 0.7-24.0) years for all subjects and 24.7 (interquartile interval, 23.3 - 27.7) years for surviving subjects. Freedom from death or transplantation was 48% (95% confidence interval [CI], 30-65) at 10 years after diagnosis and 45% (95% CI, 27-63) at 15 years. In competing-risk analysis, 21% of subjects with LVNC were alive with normal left ventricular systolic function, and 31% were alive with abnormal function at 15 years. Propensity-score matching between subjects with LVNC-D and those with dilated cardiomyopathy suggested a lower freedom from death/transplantation at 15 years after diagnosis in the subjects with LVNC-D (LVNC-D, 46% [95% CI, 26-66] versus dilated cardiomyopathy, 70% [95% CI, 42-97]; P=0.08). Using propensity-score inverse probability of treatment-weighted Cox regression, we found evidence that LVNC-D was associated with a greater risk of death or transplantation (hazard ratio, 2.3; 95% CI, 1.4-3.8; P=0.0012).

Conclusions: Symptomatic children with LVNC usually present in early infancy with a predominant dilated phenotype. Long-term outcomes are worse than for matched children with dilated cardiomyopathy.
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http://dx.doi.org/10.1161/CIRCULATIONAHA.117.032262DOI Listing
July 2018

Tell me once, tell me soon: parents' preferences for clinical genetics services for congenital heart disease.

Genet Med 2018 11 1;20(11):1387-1395. Epub 2018 Mar 1.

Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney, New South Wales, Australia.

Purpose: As the molecular basis of congenital heart disease (CHD) comes into sharper focus, cardiac genetics services are likely to play an increasingly important role. This study aimed to identify parents' preferences for, and willingness to participate in, clinical genetics services for CHD.

Methods: A discrete choice experiment was developed to assess parents' preferences for pediatric cardiogenetics services based on four attributes: appointment format, health professionals involved, waiting time, and information format. Data were analyzed using a mixed logit model.

Results: One hundred parents with a living child diagnosed with CHD requiring surgical intervention between 2000 and 2009 completed the discrete choice experiment. Parents expressed a clear preference for cardiac genetics services featuring (i) a single appointment, (ii) the presence of a clinical geneticist and a genetic counselor, (iii) both verbal (oral) and Web-based information about CHD and genetics, and (iv) availability of an appointment within 2 weeks. If offered such conditions, 93% of respondents indicated that they would attend. The choice of service was most strongly influenced by the presence of both a clinical geneticist and a genetic counselor.

Conclusion: Parents of children with CHD favor a single, timely genetics appointment with both a geneticist and a genetic counselor present. If appointments offered match these preferences, uptake is likely to be high.
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http://dx.doi.org/10.1038/gim.2018.16DOI Listing
November 2018

Long-Term Outcomes of Hypertrophic Cardiomyopathy Diagnosed During Childhood: Results From a National Population-Based Study.

Circulation 2018 07 28;138(1):29-36. Epub 2018 Feb 28.

Royal Children's Hospital, Melbourne, Australia (P.M.A.A., A.M.D., R.G.W.).

Background: Late survival and symptomatic status of children with hypertrophic cardiomyopathy have not been well defined. We examined long-term outcomes for pediatric hypertrophic cardiomyopathy.

Methods: The National Australian Childhood Cardiomyopathy Study is a longitudinal population-based cohort study of children (0-10 years of age) diagnosed with cardiomyopathy between 1987 and 1996. The primary study end point was time to death or cardiac transplantation.

Results: There were 80 patients with hypertrophic cardiomyopathy, with a median age at diagnosis of 0.48 (interquartile range, 0.1, 2.5) years. Freedom from death/transplantation was 86% (95% confidence interval [CI], 77.0-92.0) 1 year after presentation, 80% (95% CI, 69.0-87.0) at 10 years, and 78% (95% CI, 67.0-86.0) at 20 years. From multivariable analyses, risk factors for death/transplantation included symmetrical left ventricular hypertrophy at the time of diagnosis (hazard ratio, 4.20; 95% CI, 1.60-11.05; =0.004), Noonan syndrome (hazard ratio, 2.88; 95% CI, 1.02-8.08; =0.045), higher posterior wall thickness score (hazard ratio, 1.45; 95% CI, 1.22-1.73; <0.001), and lower fractional shortening score (hazard ratio, 0.84; 95% CI, 0.74-0.95; =0.005) during follow-up. Nineteen (23%) subjects underwent left ventricular myectomy. At a median of 15.7 years of follow-up, 27 (42%) of 63 survivors were treated with β-blocker, and 13 (21%) had an implantable cardioverter-defibrillator.

Conclusions: The highest risk of death or transplantation for children with hypertrophic cardiomyopathy is within 1 year after diagnosis, with low attrition rates thereafter. Many subjects receive medical, surgical, or device therapy.
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http://dx.doi.org/10.1161/CIRCULATIONAHA.117.028895DOI Listing
July 2018

Contemporary incidence of stroke (focal infarct and/or haemorrhage) determined by neuroimaging and neurodevelopmental disability at 12 months of age in neonates undergoing cardiac surgery utilizing cardiopulmonary bypass.

Interact Cardiovasc Thorac Surg 2018 04;26(4):644-650

Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia.

Objectives: When evaluated prospectively, acute brain injury is reported in up to 75% of neonates undergoing cardiopulmonary bypass (CPB), predominantly white matter injury rather than stroke. This study investigates the incidence of stroke (focal infarct and/or haemorrhage) detected by neuroimaging in contemporary clinical practice, whereby magnetic resonance imaging/computed tomography routinely occurs in response to clinical events, comparing those undergoing the Norwood procedure with those undergoing other neonatal procedures involving CPB, and defines the relationship between stroke and neurodevelopmental disability (NDD) at 12 months of age.

Methods: One hundred and twenty neonates underwent CPB between July 2011 and December 2014: 25 Norwood procedures and 95 non-Norwood procedures. Data were retrospectively collected including clinical data and 12-month neurodevelopmental assessment using the Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III).

Results: Stroke was detected in 12% of neonates in current clinical practice: 24% of the Norwood group vs 8% of the non-Norwood group (P = 0.03). Significant predictors of stroke in the univariate analysis included the Norwood procedure, lowest operative temperature and use of extracorporeal membrane oxygenation (P < 0.05). The lowest operative temperature and use of extracorporeal membrane oxygenation remained significant in the multivariate analysis (P < 0.05). Fifty-seven percent were assessed using the BSID-III assessment, and 68% demonstrated NDD in at least 1 subscale. In neonates who suffered stroke, the incidence of NDD was significantly greater in 4/5 subscales compared with those with no injury (P < 0.05). The Norwood group had a significantly greater incidence of NDD in 2/5 subscales when compared with the non-Norwood group (P < 0.05).

Conclusions: Stroke, established by neuroimaging in contemporary clinical practice, was detected in 12% of neonates having CPB, and those undergoing the Norwood procedure have a 3-fold risk of injury. Stroke was associated with NDD at 12 months of age.
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http://dx.doi.org/10.1093/icvts/ivx375DOI Listing
April 2018

Neonatal Ebstein Anomaly: A 30-year Institutional Review.

Semin Thorac Cardiovasc Surg 2017 Summer;29(2):206-212. Epub 2017 Feb 22.

Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, New South Wales, Australia. Electronic address:

This study aimed to review our 30-year, single-center experience of neonates admitted with Ebstein anomaly. Between January 1985 and August 2015, 80 neonates with Ebstein anomaly were managed. The primary outcome measures were early and late survival, freedom from reoperation, and functional status. Pulmonary atresia or critical stenosis occurred in 18 neonates. Twenty-seven (34%) patients required intervention: 13 systemic-to-pulmonary shunts, 5 balloon pulmonary valvotomy, 3 relief of right ventricular outflow tract obstruction, 3 Starnes procedures, and 3 other procedures. Sixty-nine (86%) of the neonates survived to hospital discharge. Overall 15-year survival estimate was 67% (SE = 6.5), with a superior prognosis for those able to be managed medically (15-year survival of 79%, SE = 7.0) compared with those in whom surgical or catheter intervention was undertaken (15-year survival of 45%, SE = 11.2, P = 0.005). For early survivors of neonatal surgery, freedom from reoperation at 10 years was 16% (SE = 8.5). For long-term survivors, 96% were classified as New York Heart Association Class I or II. Neonates with Ebstein anomaly who can be managed without intervention have a good prognosis. Substantial mortality risk remains in those who require intervention, especially those complicated by pulmonary atresia.
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http://dx.doi.org/10.1053/j.semtcvs.2017.01.012DOI Listing
September 2017

Congenitally corrected transposition: complex anatomic repair or Fontan pathway?

Asian Cardiovasc Thorac Ann 2017 Jul 13;25(6):432-439. Epub 2017 Jun 13.

1 Heart Centre for Children, The Children's Hospital at Westmead, Westmead, NSW, Australia.

Background Successful anatomic repair of congenitally corrected transposition of the great arteries achieves excellent outcomes. Several centers report excellent long-term survival with the Fontan pathway as well. We have selectively applied both approaches depending on individual patient morphology, with anatomic repair preferred but utilizing the Fontan pathway when high technical complexity or operative risk is anticipated. Methods Hospital records over an 18-year period (1998-2016) were reviewed to identify patients with congenitally corrected transposition of the great arteries who underwent surgical management. Physiological repairs and hypoplastic ventricles were excluded. Patient- and procedure-related variables were reviewed. Results We identified 19 patients. Group 1 consisted of 12 anatomic repairs, of which 10 (83.3%) required prior interim staging procedures. Mean age at anatomic repair was 2.6 ± 1.3 years, mean follow-up was 8.7 ± 5.3 years. Nine (75%) patients experienced important complications and 4 (33.3%) required reintervention during follow-up. There were no deaths; one patient required heart transplantation. Group 2 (7 patients) underwent Fontan palliation. Mean age at Fontan completion was 7.2 ± 3.8 years, mean follow-up was 6.3 ± 4 years. There was no reintervention, death, or transplant. Conclusion Patients with congenitally corrected transposition of the great arteries and two adequate-sized ventricles do well with both anatomic repair and the Fontan pathway in the medium term. Excellent outcomes with reduced early complication and reintervention rates can be achieved for this cohort of patients when a strategy of avoiding complex anatomic repair in favor of the Fontan pathway is used.
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http://dx.doi.org/10.1177/0218492317717412DOI Listing
July 2017

Mortality, rehospitalizations and costs in children undergoing a cardiac procedure in their first year of life in New South Wales, Australia.

Int J Cardiol 2017 Aug 27;241:156-162. Epub 2017 Mar 27.

Clinical and Population Perinatal Health Research, Kolling Institute, Northern Sydney Local Health District, St Leonards, NSW, Australia; Sydney Medical School Northern, University of Sydney, Sydney, NSW, Australia.

Background: Cardiac procedures are part of management for many children with congenital heart disease (CHD). Using population health data, this study explores health outcomes of children undergoing a cardiac procedure in the first year of life to better understand the impact of CHD on children, families and health services.

Methods And Results: A population-based record-linkage cohort study was undertaken. Rate of cardiac procedures in the first year of life over the study period 2001-2012 in New South Wales, Australia, was steady at 2.5 children per 1000 live births, accounting for 2722 children. Excluding those with isolated closure of patent ductus arteriosus (n=416), 50% required readmission in the first year of life. Over 1/5th had an additional non-cardiac congenital anomaly. Average total cost per infant for initial procedure admission was $67,054 AUD ($63,124-$70,984) with a median length of stay (LOS) 13days (IQR 8-23). Average cost per readmission in the first year of life was $11,342 (95% CI 10,361-$12,323) with median LOS 2days (IQR 1-5). Mortality rate in the 30days following initial procedure was 3.1% (72/2306). Mortality rate by age 1year was 7.1%, and 13.8% for those who had neonatal surgery.

Conclusion: Risk of mortality in operatively-managed CHD extends beyond the immediate perioperative period. Children undergoing a cardiac procedure in their first year are often readmitted to hospital for both further planned procedures and unplanned reasons such as infection. These readmissions capture the significant impact of illness and pose substantial financial cost to the health system.
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http://dx.doi.org/10.1016/j.ijcard.2017.03.113DOI Listing
August 2017

Improved long-term outcomes in double-inlet left ventricle and tricuspid atresia with transposed great arteries: systemic outflow tract obstruction present at birth defines long-term outcome.

Eur J Cardiothorac Surg 2017 Jun;51(6):1051-1057

Heart Centre for Children, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Westmead, NSW, Australia.

Objectives: In 2 subtypes of functional single ventricle, double inlet left ventricle (DILV) and tricuspid atresia with transposed great arteries (TA-TGA), systemic output passes through an outflow chamber before entering the aorta. Intracardiac obstruction to this pathway causing systemic outflow tract obstruction (SOTO) may be present at birth or develop over time. Long-term survival after Fontan has not been defined. We defined outcomes utilizing records from 2 centres that were cross-checked with data from a bi-national Fontan Registry for completeness and accuracy.

Methods: Two hundred and eleven patients were identified, 59 TA-TGA,152 DILV. Median follow-up was 17 years (range 4 days to 49.8 years). The Kaplan-Meier method was used for all of the time to event analyses and the log-rank test was used to compare the time-to-events. Cox proportional hazard models were used to test the association between potential predictors and time-to-event end-points.

Results: TA-TGA had reduced survival compared to DILV (cumulative risk of death 28.8% vs 11%, hazard ratio (HR) 3.1 (95% confidence interval (CI) 1.6-6.1), P  = 0.001). In both groups, SOTO at birth carried a worse prognosis HR 3.54 (1.36-9.2, P  = 0.01). SOTO was not more common in either morphology at birth ( P  = 0.20). Periprocedural mortality accounted for 40% of deaths. Fontan was achieved in 82%, DILV were more likely to achieve Fontan than TA-TGA (91% vs 60%, P <0.001). After Fontan there were 9 deaths (4%) with no difference according to morphology.

Conclusions: Patients with TA-TGA have poorer outcomes than those with DILV, affecting survival and likelihood of achieving Fontan. SOTO at birth carries a high risk of mortality suggesting that, when present, initial surgical management should address this.
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http://dx.doi.org/10.1093/ejcts/ezx022DOI Listing
June 2017

The Lymphatic Circulation in Adaptations to the Fontan Circulation.

Pediatr Cardiol 2017 Jun 16;38(5):886-892. Epub 2017 Feb 16.

The Heart Centre for Children, The Children's Hospital at Westmead, Sydney, NSW, Australia.

Failing Fontan continues to be major problem for patients on the univentricular pathway. Failing Fontan is often complicated by chylothorax, plastic bronchitis and protein loosing enteropathy. The role of lymphatic circulation in Fontan circulation is still being researched. Newer imaging modalities give insight into the role of abnormal dilatation and retrograde flow in lymphatic channels post Fontan. Interventional strategies targeting abnormal lymphatic channels, provides an alternative management strategy for patients with failing Fontan. This review focuses on the role of lymphatic system in adaptations to Fontan circulation.
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http://dx.doi.org/10.1007/s00246-017-1576-yDOI Listing
June 2017

Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.

J Am Coll Cardiol 2017 Feb;69(7):859-870

Kids Heart Research, The Children's Hospital at Westmead, Sydney, Australia; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Sydney Medical School, University of Sydney, Australia. Electronic address:

Our understanding of the genetics of congenital heart disease (CHD) is rapidly expanding; however, many questions, particularly those relating to sporadic forms of disease, remain unanswered. Massively parallel sequencing technology has made significant contributions to the field, both from a diagnostic perspective for patients and, importantly, also from the perspective of disease mechanism. The importance of de novo variation in sporadic disease is a recent highlight, and the genetic link between heart and brain development has been established. Furthermore, evidence of an underlying burden of genetic variation contributing to sporadic and familial forms of CHD has been identified. Although we are still unable to identify the cause of CHD for most patients, recent findings have provided us with a much clearer understanding of the types of variants and their individual contributions and collectively mark an important milestone in our understanding of both familial and sporadic forms of disease.
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http://dx.doi.org/10.1016/j.jacc.2016.11.060DOI Listing
February 2017

Feeding difficulties in neonates following cardiac surgery: determinants of prolonged feeding-tube use.

Cardiol Young 2017 Aug 23;27(6):1203-1211. Epub 2017 Jan 23.

1Discipline of Paediatrics and Child Health,Sydney Medical School,The University of Sydney, Sydney,New South Wales,Australia.

Aim The aims of this study were to examine the prevalence and potential correlates of feeding difficulties in infants who underwent cardiac surgery in the neonatal period and to investigate resource utilisation by infants with feeding difficulties.

Methods: All neonates who underwent their first cardiac surgery at the Heart Centre for Children, The Children's Hospital at Westmead, between January and December, 2009 were included. Demographic, preoperative, intraoperative, and postoperative data were collected via electronic medical records. For the purpose of this study, feeding difficulty was defined as the requirement for ongoing tube feeding at the time of discharge home or transfer to another hospital.

Results: Out of a total of 79 neonates, 24 (30%) were discharged home or transferred to another hospital with a feeding tube. Feeding difficulties were associated with the presence of a genetic syndrome (p<0.0001), assisted feeding preoperatively (odds ratio (OR)=4.4, p=0.03), and having a palliative procedure before biventricular repair (OR=5.1, p=0.02). Infants with feeding difficulties had significantly more reviews by speech pathologists (M=5.9, SD=7.9), dieticians (M=5.9, SD=5.4), and cardiac clinical nurse consultants (M=1.2, SD=1.4) compared with those without feeding difficulties.

Conclusions: This study identified factors that can be used in the early recognition of infant feeding difficulties, to help guide the direction of limited health resources, as well as being focal points for future research and clinical practice improvement.
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http://dx.doi.org/10.1017/S1047951116002845DOI Listing
August 2017

The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease.

Int J Cardiol 2017 Mar 13;230:155-163. Epub 2016 Dec 13.

Kids Heart Research, The Children's Hospital at Westmead, Sydney, Australia; The Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Sydney Medical School, University of Sydney, Australia. Electronic address:

Background: Exome sequencing is an established strategy to identify causal variants in families with two or more members affected by congenital heart disease (CHD). This unbiased approach, in which both rare and common variants are identified, makes it suitable to research complex, heterogeneous diseases such as CHD.

Methods And Results: Exome sequencing was performed on two affected members of a three generation family with atrial septal defects (ASD), suggesting a dominant inheritance pattern. Variants were filtered using two bioinformatics pipelines and prioritised according to in silico prediction programs. Segregation studies and functional analyses were used to assess co-segregation with disease and effects on protein function, respectively. Following the data and in silico analyses, ten candidate variants were prioritised. Of these, SRPK2 (c.2044C>T[p.Arg682Trp]) and NOTCH1 (c.3835C>T[p.Arg1279Cys]), co-segregated with disease in the family; however, previous functional analyses on SRPK2 make this an unlikely candidate. Functional analyses in the variant (c.3835C>T[p.Arg1279Cys]) of the known CHD gene NOTCH1 demonstrated a non-significant decrease in signalling activity.

Conclusion: This study demonstrates both the potential, as well as the challenges, of applying exome sequencing to complex diseases such as CHD. While in silico evidence and segregation analyses in the NOTCH1 p.Arg1279Cys variant are highly suggestive of pathogenicity, the minimal change in signalling capacity suggests that other variants may be required for CHD development. This study highlights the difficulties of applying exome sequencing in familial, non-syndromic CHD in the clinical environment and a cautionary note in the interpretation of apparently causal abnormalities in silico without supportive functional data.
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http://dx.doi.org/10.1016/j.ijcard.2016.12.024DOI Listing
March 2017

The Long-Term Management of Children and Adults with a Fontan Circulation: A Systematic Review and Survey of Current Practice in Australia and New Zealand.

Pediatr Cardiol 2017 Jan 27;38(1):56-69. Epub 2016 Oct 27.

The Heart Centre for Children, The Children's Hospital at Westmead, Corner of Hawkesbury Road and Hainsworth Street, Westmead, NSW, 2145, Australia.

Although long-term survival is now the norm, Fontan patients face significant morbidity and premature mortality. Wide variation exists in long-term Fontan management. With an aim of improving their long-term management, we conducted a systematic review to identify best available evidence and gaps in knowledge for future research focus. We also surveyed cardiologists in Australia and New Zealand managing Fontan patients, to determine the alignment of current local practice with best available evidence. A systematic review was conducted using strict search criteria (PRISMA guidelines), pertaining to long-term Fontan management. All adult congenital and paediatric cardiologists registered with The Australia and New Zealand Fontan Registry were invited to respond to an online survey. Reasonable quality evidence exists for non-inferiority of aspirin over warfarin for thromboprophylaxis in standard-risk Fontan patients. No strong evidence is currently available for the routine use of ACE inhibitors, beta blockers or pulmonary vasodilators. Little evidence exists regarding optimal arrhythmia treatment, exercise restriction/prescription, routine fenestration closure, elective Fontan conversion and screening/management of liver abnormalities. Although pregnancy is generally well tolerated, there are high rates of miscarriage and premature delivery. Thirty-nine out of 78 (50 %) cardiologists responded to the survey. Heterogeneity in response was demonstrated with regard to long-term anti-coagulation, other medication use, fenestration closure and pregnancy and contraception counselling. Substantial gaps in our knowledge remain with regard to the long-term management of Fontan patients. This is reflected in the survey of cardiologists managing these patients. We have identified a number of key areas for future research.
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http://dx.doi.org/10.1007/s00246-016-1484-6DOI Listing
January 2017

eHealth literacy and preferences for eHealth resources in parents of children with complex CHD.

Cardiol Young 2017 May 19;27(4):722-730. Epub 2016 Sep 19.

2Heart Centre for Children,The Sydney Children's Hospitals Network (Westmead and Randwick),Sydney,New South Wales,Australia.

Introduction This study aimed to (a) examine eHealth literacy, beliefs, and behaviours in parents of children with complex CHD, and (b) identify parents' preferences for the content, format, features, and functions of eHealth resources for CHD. Materials and methods Families (n=198) of children born between 2008 and 2011 and diagnosed with CHD requiring surgery were mailed a survey assessing a range of variables including eHealth literacy, beliefs, and behaviours as well as preferences for the format, functions, features, and content of eHealth resources for CHD.

Results: A total of 132 parents (83 mothers, 49 fathers) completed the survey (response rate: 50%). Mothers (96%) were more likely to access eHealth resources than fathers (83%, χ2=6.74, p=0.009). Despite high eHealth resource use, eHealth literacy was relatively low, with results demonstrating considerable and widespread gaps in awareness of, access to, and communication about eHealth resources. Over 50% of parents reported that decisions regarding their child's healthcare were influenced, to some extent, by web-based resources. Barriers to doctor-patient communication about eHealth included limited consultation time and concern about doctors' disapproval. Participants demonstrated a strong desire for "eHealth prescriptions" from their child's healthcare team, and perceived a wide range of eHealth topics as highly important, including treatment-related complications as well as physical, cognitive, and emotional development in children with CHD. Discussion Results suggest a need for stronger, more proactive partnerships between clinicians, researchers, educators, technologists, and patients and families to bring about meaningful innovations in the development and implementation of eHealth interventions in paediatric cardiology.
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http://dx.doi.org/10.1017/S1047951116001177DOI Listing
May 2017

"Congenital heart health": how psychological care can make a difference.

Med J Aust 2016 Aug;205(3):104-7

Heart Centre for Children, The Children's Hospital at Westmead, Sydney, NSW.

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http://dx.doi.org/10.5694/mja16.00392DOI Listing
August 2016

Developmental outcomes at 3 years of age following major non-cardiac and cardiac surgery in term infants: A population-based study.

J Paediatr Child Health 2015 Dec 17;51(12):1221-5. Epub 2015 Jun 17.

Grace Centre for Newborn Care, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

Objective: The objective of this study was to determine whether there remain developmental differences between term infants at 3 years of age following major non-cardiac surgery (NCS) and cardiac surgery (CS) compared with healthy control infants in New South Wales (NSW), Australia.

Study Design: Between 2006 and 2008, term infants who required NCS or CS within the first ninety days of life were enrolled in a prospective population-based study. Their developmental outcome was then compared with a cohort of healthy term infants. Infants initially assessed at 1 year of age were then re-assessed at 3 years of age using the Bayley scales of infant and toddler development (version-

Iii) Results: Of the 539 term infants assessed at 1 year of age, 417 returned for the 3-year assessment, with 378 complete assessments. The mean scores for the infants who underwent CS (P < 0.001) were significantly lower in all subscales of the assessment compared with the controls, while the mean scores for the infants who underwent NCS were significantly lower in three of the subscales (P < 0.05). The infants who underwent CS scored significantly lower in four of the subscales (P < 0.05), compared with the infants who underwent NCS.

Conclusion: The second phase of this unique population-based study provides further data on the outcomes of infants who underwent major NCS and CS. Major surgery in infants continues to be associated with developmental delay at 3 years of age compared with control infants; however the majority of the delay is mild. The risk remains higher in CS group with the pattern and severity of delay similar to that observed in the first study.
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http://dx.doi.org/10.1111/jpc.12943DOI Listing
December 2015

Sudden death in childhood cardiomyopathy: results from a long-term national population-based study.

J Am Coll Cardiol 2015 Jun;65(21):2302-10

Murdoch Children's Research Institute, Parkville, Victoria, Australia; Royal Children's Hospital, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia. Electronic address:

Background: Children with cardiomyopathy (CM) are at risk of sudden cardiac death (SCD), but the incidence and risk factors for this outcome are not clear.

Objectives: This study sought to determine the incidence and risk factors for SCD in children with varying CM phenotypes from a long-term population-based study of childhood CM.

Methods: The NACCS (National Australian Childhood Cardiomyopathy Study) is an ongoing longitudinal cohort study including all children in Australia with primary CM who were diagnosed between January 1, 1987, and December 31, 1996, and were <10 years of age. The cumulative incidence and risk factors for SCD within individual CM phenotypes were explored using survival analysis.

Results: Of 289 eligible patients, 16 (5.5%) experienced SCD over a median follow-up of 11.9 years (interquartile range: 1.7 to 15.4). The risk of SCD varied according to CM phenotype (p=0.007). The cumulative incidence of SCD at 15 years was 5% for dilated cardiomyopathy (DCM), 6% for hypertrophic cardiomyopathy (HCM), 12% for restrictive cardiomyopathy, and 23% for left ventricular (LV) noncompaction. Older age at diagnosis, positive family history of CM, and severity of LV dysfunction were related to increased risk of SCD in patients with DCM, and a higher posterior wall thickness Z-score was the sole risk factor identified for patients with HCM.

Conclusions: Predictors of SCD include CM phenotype, family history of CM (DCM), severity of systolic dysfunction (DCM), and extent of LV hypertrophy (HCM). Continuing follow-up of this cohort into adulthood is likely to reveal an ongoing risk of SCD.
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http://dx.doi.org/10.1016/j.jacc.2015.03.552DOI Listing
June 2015