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Pediatr Neurol 2022 May 27;133:15-20. Epub 2022 May 27.

Department of Radiology, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu Province, China. Electronic address:

Background: White matter injury (WMI) and impaired neurodevelopment are common in children with congenital heart disease. However, the effect of WMI on neurodevelopmental outcomes is still rarely reported. In this study, we aimed to investigate microstructural changes in white matter (WM) and its relationship with neurodevelopmental outcomes and further explore the underlying neurophysiological mechanisms of neurocognitive impairments in the tetralogy of Fallot (ToF). Read More

Nature 2022 Jun 22. Epub 2022 Jun 22.

Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA.

The heart, the first organ to develop, undergoes complex morphogenesis that when defective results in congenital heart disease (CHD). With current therapies, more than 90% of CHD patients survive into adulthood but often suffer premature death from heart failure (HF) and non-cardiac causes . To gain insight into poorly understood disease progression, we performed single nuclear RNA sequencing (snRNA-seq) and analyzed 157,273 nuclei from donors and CHD patients, including hypoplastic left heart syndrome (HLHS) and Tetralogy of Fallot (TOF), two common forms of cyanotic CHD lesions, as well as, dilated (DCM) and hypertrophic (HCM) cardiomyopathies. Read More

Front Pediatr 2022 6;10:864455. Epub 2022 May 6.

Paediatric Cardiac Surgery Centre, National Centre for Cardiovascular Diseases, Peking Union Medical College, Fuwai Hospital, Chinese Academy of Medical Sciences, Beijing, China.

Background: Pulmonary regurgitation (PR), though well tolerated for short term in patients with repaired tetralogy of Fallot (rTOF), could lead to right ventricular (RV) dysfunction, arrhythmias, and sudden cardiac death. Pulmonary valve replacement (PVR), considered as the gold-standard treatment for PR, is performed to mitigate these late effects. In this study, we aimed to evaluate the midterm outcomes and predictors of adverse clinical outcomes (ACO). Read More

JACC Cardiovasc Imaging 2022 05;15(5):954-955

Eur Heart J Cardiovasc Imaging 2022 May 3. Epub 2022 May 3.

Department of Cardiology, Sanjay Gandhi postgraduate institute of medical sciences (SGPGIMS), Lucknow, Uttar Pradesh, India.

Aims: Assessment of pulmonary vascular dimensions (PVDs) in Tetralogy of Fallot (TOF) is an integral part of planning transcatheter and surgical interventions. We sought to examine the reliability and correlation of echocardiography (ECHO) and computed tomography angiography (CTA) measurements with those obtained by cardiac catheterization and angiography (CCA).

Methods And Results: Tetralogy of Fallot physiology patients undergoing ECHO, CTA, and CCA within a month prior to surgical correction during 2018-2020 were retrospectively enrolled. Read More

Radiol Cardiothorac Imaging 2022 Apr 10;4(2):e220001. Epub 2022 Mar 10.

Department of Cardiovascular Radiology and Endovascular Interventions (N.N.P., V.P., P.J.) and Department of Cardiothoracic and Vascular Surgery (U.K.C.), All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India.

Sci Rep 2022 05 3;12(1):7136. Epub 2022 May 3.

The State Key Laboratory for Manufacturing Systems Engineering, Xi'an Jiaotong University, No. 99 Yan Cheung Road, Xi'an, Shannxi, China.

The study aimed to evaluate the effectiveness of blood pool and myocardial models made by stereolithography in the diagnosis of different types of congenital heart disease (CHD). Two modeling methods were applied in the diagnosis of 8 cases, and two control groups consisting of experts and students diagnosed the cases using echocardiography with computed tomography, blood pool models, and myocardial models. The importance, suitability, and simulation degree of different models were analyzed. Read More

Int J Cardiol 2022 Aug 26;361:31-37. Epub 2022 Apr 26.

Erasmus University Medical Center, Department of Pediatrics, division of Pediatric Cardiology, Rotterdam, the Netherlands; Erasmus University Medical Center, Department of Radiology, Rotterdam, the Netherlands; Radboud University Medical Center, Department of Pediatrics, division of Pediatric Cardiology, Nijmegen, the Netherlands. Electronic address:

Background: To determine the potential prognostic value and clinical correlations of blood biomarkers in a cohort of patients with Tetralogy of Fallot (TOF).

Methods: In the setting of multicenter prospective research studies TOF patients underwent blood sampling, cardiopulmonary exercise testing and low-dose dobutamine stress cardiac magnetic resonance (CMR) imaging. In the blood sample NT-proBNP, GDF-15, Galectin-3, ST-2, DLK-1, FABP4, IGFBP-1, IGFBP-7, MMP-2, and vWF were assessed. Read More

Int J Cardiol 2022 Jul 26;358:27-33. Epub 2022 Apr 26.

Division of Cardiology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Background: Serum biomarkers of myocardial fibrosis are considered markers of adverse outcome in adults with heart disease. Associations between biomarkers and clinical parameters in tetralogy of Fallot (TOF) has been understudied. We compared serum biomarker profiles with clinical and cardiac magnetic resonance (CMR) parameters of ventricular remodeling in patients with repaired TOF. Read More

Am J Cardiol 2022 Jul 23;174:151-157. Epub 2022 Apr 23.

Division of Cardiology, Department of Internal Medicine. Electronic address:

Arrhythmias are the leading cause of morbidity and mortality in repaired tetralogy of Fallot (TOF), and over 20% of these patients will develop a sustained atrial arrhythmia during their lifetimes. Cardiac magnetic resonance imaging (cMRI) is frequently performed in TOF, although its ability to identify patients at risk of atrial arrhythmias is uncertain. Adult TOF patients (n = 175) with no history of atrial arrhythmia who underwent cMRI between 2003 and 2020 at a single tertiary care center were identified. Read More

Cardiol Young 2022 Apr 22:1-5. Epub 2022 Apr 22.

Division of Pediatric Cardiology, Advocate Children's Hospital, Chicago, IL, USA.

Background: Paediatric residents are often taught cardiac anatomy with two-dimensional images of heart specimens, or via imaging such as echocardiography or computed tomography. This study aimed to determine if the use of a structured, interactive, teaching session using heart specimens with CHD would be effective in teaching the concepts of cardiac anatomy.

Methods: The interest amongst paediatric residents of a cardiac anatomy session using heart specimens was assessed initially by circulating a survey. Read More

Front Cardiovasc Med 2022 5;9:839166. Epub 2022 Apr 5.

State Key Laboratory of Developmental Biology of Freshwater Fish, Hunan Normal University, Changsha, China.

Background: Drug exposure during gestation or in prematurely born children represents a significant risk to congenital heart disease (CHD). Amantadine is an antiviral agent also effective in the treatment of Parkinson's disease. However, while its potential side effects associated with tetralogy of fallot (ToF) and birth defects were implicated, its underlying etiologic mechanisms of action remain unknown. Read More

Ann Card Anaesth 2022 Apr-Jun;25(2):164-170

Department of Radiology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Background: Pulmonary regurgitation is imminent after transannular patch (TAP). We analyze the long-term performance of untreated autologous pericardium (UAP) as valve substitute at pulmonary position in patients requiring TAP.

Material And Methods: This cross-sectional study include patients operated between 2007 and 2012 (n = 92). Read More

J Card Surg 2022 Jul 12;37(7):2100-2102. Epub 2022 Apr 12.

Department of Radiodiagnosis, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Absent pulmonary valve has usually been described in association with tetralogy of Fallot. Present case highlights its association with congenitally corrected transposition which has not been reported so far in literature. Read More

J Card Surg 2022 Jun 31;37(6):1720-1721. Epub 2022 Mar 31.

Department of Cardiovascular Radiology & Endovascular Interventions, All India Institute of Medical Sciences, New Delhi, India.

We hereby present a case of tetralogy of Fallot with duplicated brachiocephalic vein having a preaortic and a subaortic component. We aim to highlight the role of computed tomography angiography in identifying these rare associations of tetralogy of Fallot. Read More

Curr Probl Cardiol 2022 Mar 25:101184. Epub 2022 Mar 25.

Department of Health Economics, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.

Congenital heart diseases (CHD) are considered to be the second leading cause of death during infancy and childhood. However, due to advanced imaging techniques, more than 90% of children with complex CHD survive into adulthood, increasing the prevalence of CHD in the population. Tetralogy of Fallot (ToF) is considered to be the most common, complex, cyanotic CHD. Read More

J Card Surg 2022 Jun 26;37(6):1718-1719. Epub 2022 Mar 26.

Department of Cardiovascular Radiology & Endovascular Interventions, All India Institute of Medical Sciences, New Delhi, India.

We report a case of a 5-year-old child with tetralogy of Fallot-pulmonary atresia with anomalous origin of left pulmonary artery from ascending aorta and right lung supplied by collateral arteries. This case highlights the role of preoperative CT angiography in differentiating this entity from a common arterial trunk with discontinuous pulmonary arteries. Read More

Tohoku J Exp Med 2022 May 24;257(1):7-15. Epub 2022 Mar 24.

Biomedical Imaging Laboratory, Tohoku University Graduate School of Medicine.

Right ventricular (RV) dysfunction caused by chronic pulmonary regurgitation (PR) is a major determinant of clinical outcome in adults with repaired tetralogy of Fallot (rTOF). However, the accurate assessment of RV function by conventional echocardiography remains challenging. This study tested the feasibility and usefulness of RV free-wall (RVFW) strain obtained by two-dimensional (2D) speckle-tracking echocardiography (STE) in evaluation of RV function in adults with rTOF by comparing cardiac magnetic resonance (CMR) imaging. Read More

Am J Obstet Gynecol 2022 Mar 16. Epub 2022 Mar 16.

Division of Obstetrics and Feto-Maternal Medicine, Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria. Electronic address:

Background: Congenital heart disease is associated with an increased risk of smaller brain volumes and structural brain damage, and impaired growth of supratentorial brain structures in utero has been linked to poor neurodevelopmental outcomes. However, little is known on brainstem and cerebellar volumes in fetuses with congenital heart disease. Moreover, it is not clear whether impaired infratentorial growth, if present, is associated with only certain types of fetal cardiac defects or with supratentorial brain growth, and whether altered biometry is already present before the third trimester. Read More

J Am Heart Assoc 2022 04 18;11(7):e022694. Epub 2022 Mar 18.

Department of Heart, Thoracic, Transplantation and Vascular Surgery Hannover Medical School Hannover Germany.

Background Right ventricular outflow tract (RVOT) stenosis after repair of tetralogy of Fallot has been linked with favorable right ventricular remodeling but adverse outcomes. The aim of our study was to assess the hemodynamic impact and prognostic relevance of right ventricular pressure load in this population. Methods and Results A total of 296 patients with repaired tetralogy of Fallot (mean age, 17. Read More

J Am Soc Echocardiogr 2022 Mar 12. Epub 2022 Mar 12.

Fetal & Neonatal Cardiology Program, Division of Cardiology, Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada; Department of Obstetrics & Gynecology, Women's & Children's Health Research Institute, University of Alberta, Edmonton, Alberta, Canada. Electronic address:

Background: Fetal echocardiography has evolved over four decades, now permitting the prenatal diagnoses of most major congenital heart disease (CHD). To identify areas for targeted improvement, the authors explored the diagnostic accuracy of fetal echocardiography in defining major fetal CHD.

Methods: All fetuses with major fetal CHD (11 subtypes) at a single institution between 2007 and 2018 were identified (n = 827). Read More

Heart Fail Rev 2022 Mar 14. Epub 2022 Mar 14.

Department of Health Economics, School of Medicine, National and Kapodistrian University of Athens, 75 Mikras Asias Street, 115 27, Athens, Greece.

Tetralogy of Fallot (ToF) is considered to be the most common, complex, cyanotic congenital heart disease (CHD) representing 7-10% of all congenital heart defects, whereas the patients with ToF are the most frequently operated in their early infancy or childhood. Cardiac magnetic resonance (CMR) consists a valuable imaging technique for the diagnosis and serial follow-up of CHD patients. Furthermore, in recent years, advanced echocardiography imaging techniques have come to the fore, aiming to achieve a complete and more accurate evaluation of cardiac function using speckle tracking imaging modalities. Read More

Turk J Pediatr 2022 ;64(1):171-178

Departments of Neonatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Background: Tetrasomy 9p is a rare genetic condition which usually results from a supernumerary isochromosome derived from the short arm of chromosome 9. Phenotypic findings include multiple congenital anomalies, facial dysmorphism, growth and developmental delays, and also vary according to the presence and degree of mosaicism.

Case: We report on a newborn with tetrasomy 9p who deceased in the newborn period. Read More

Brain Imaging Behav 2022 Mar 9. Epub 2022 Mar 9.

Department of Biomedical Sciences for Health, Università degli Studi di Milano, Via Mangiagalli 31, 20133, Milano, Italy.

Life expectancy in adults with congenital heart disease (ACHD) has increased. As these patients grow older, they experience aging-related diseases more than their healthy peers. To better characterize this field, we launched the multi-disciplinary BACH (Brain Aging in Congenital Heart disease) San Donato study, that aimed at investigating signs of brain injury in ACHD. Read More

Cardiol Young 2022 Mar 4:1-6. Epub 2022 Mar 4.

Cardiology Department, Hospital de Santa Marta, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal.

Background: CHD increases the risk of infective endocarditis due to the substrate of prosthetic materials and residual lesions. However, lesion-specific and mortality risks data are lacking. We sought to analyse clinical course and mortality of infective endocarditis in a cohort of adult CHD. Read More

BMC Med Genomics 2022 03 3;15(1):40. Epub 2022 Mar 3.

Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, No.2, Anzhen Road, Chaoyang District, Beijing, 100029, China.

Background: Coffin-Siris syndrome-8 (CSS8) is a rare autosomal dominant disorder caused by variants in SMARCC2, a core subunit of the chromatin-remodeling complex BRG1-associated factor (BAF). The clinical characteristics of this disorder have not been entirely determined because of the rarity of clinical reports. The BAF complex plays a crucial role in embryogenesis and cardiac development, and pathogenic variants in genes encoding the components of the BAF complex have been associated with congenital heart disease (CHD). Read More

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2021 Dec;46(12):1380-1385

Department of Cardiovascular Surgery, Second Xiangya Hospital, Central South University, Changsha 410011, China.

Objectives: Residual ventricular septal defect (VSD) after congenital heart disease (CHD) is one of the major postoperative complications in cardiac surgery. At present, the commonly used clinical treatment methods for this complication are reoperation to redo surgical repair with cardiopulmonary bypass (CPB) and percutaneous transcatheter device closure, but these 2 methods have their own advantages and disadvantages. Transthoracic punctural closure of residual VSD is a feasible, safe, and novel technique for patients with residual VSD, which avoids not only the risk of difficulties in reoperation under another CPB due to thoracic adhesion, but also the risk of radiation exposure. Read More

Cardiol Young 2022 Mar 2:1-6. Epub 2022 Mar 2.

Schneeweiss Adult Congenital Heart Center, Columbia University Irving Medical Center, New York, NY, USA.

The timing of pulmonary valve replacement in patients with pulmonary regurgitation following treatment of pulmonary stenosis is undefined. Although cardiac magnetic resonance-based right ventricular volumes in tetralogy of Fallot patients have been used as a guide in pulmonary stenosis patients, anatomic differences between tetralogy of Fallot and pulmonary stenosis patients complicate their application to pulmonary stenosis patients and could result in late referral for pulmonary valve replacement. We sought to determine if pulmonary stenosis patients referred for pulmonary valve replacement were at greater risk for morbidity or need for tricuspid valve intervention at the time of pulmonary valve replacement. Read More

Front Neurosci 2021 7;15:685372. Epub 2022 Feb 7.

Department of Cardiothoracic Surgery, Children's Hospital of Nanjing Medical University, Nanjing, China.

Despite intracardiac malformation correction, children with Tetralogy of Fallot (TOF) may still suffer from brain injury. This cross-sectional study was primarily designed to determine the relationship between blood oxygenation level-dependent (BOLD) signal changes after surgery and cognition in school-aged children with TOF. To evaluate the differences between TOF children ( = 9) and healthy children ( = 9), resting-state functional magnetic resonance imaging (rs-fMRI) and the Wechsler Intelligence Scale for Children-Chinese revised edition (WISC-CR) were conducted in this study. Read More

Anatol J Cardiol 2022 Feb;26(2):149-150

Departments of Pediatrics, Pediatric Cardiology, Faculty of Medicine, Demiroğlu Bilim University; İstanbul-Turkey.