Publications by authors named "Ahmad Amin"

103 Publications

Improving electrocardiogram-based detection of rare genetic heart disease using transfer learning: An application to phospholamban p.Arg14del mutation carriers.

Comput Biol Med 2021 Feb 11;131:104262. Epub 2021 Feb 11.

Amsterdam UMC, University of Amsterdam, Department of Biomedical Engineering and Physics, Amsterdam, the Netherlands; Amsterdam UMC, University of Amsterdam, Department of Radiology and Nuclear Medicine, Amsterdam, the Netherlands.

The pathogenic mutation p.Arg14del in the gene encoding Phospholamban (PLN) is known to cause cardiomyopathy and leads to increased risk of sudden cardiac death. Automatic tools might improve the detection of patients with this rare disease. Deep learning is currently the state-of-the-art in signal processing but requires large amounts of data to train the algorithms. In situations with relatively small amounts of data, like PLN, transfer learning may improve accuracy. We propose an ECG-based detection of the PLN mutation using transfer learning from a model originally trained for sex identification. The sex identification model was trained with 256,278 ECGs and subsequently finetuned for PLN detection (155 ECGs of patients with PLN) with two control groups: a balanced age/sex matched group and a randomly selected imbalanced population. The data was split in 10 folds and 20% of the training data was used for validation and early stopping. The models were evaluated with the area under the receiver operating characteristic curve (AUROC) of the testing data. We used gradient activation for explanation of the prediction models. The models trained with transfer learning outperformed the models trained from scratch for both the balanced (AUROC 0.87 vs AUROC 0.71) and imbalanced (AUROC 0.0.90 vs AUROC 0.65) population. The proposed approach was able to improve the accuracy of a rare disease detection model by transfer learning information from a non-manual annotated and abundant label with only limited data available.
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http://dx.doi.org/10.1016/j.compbiomed.2021.104262DOI Listing
February 2021

Angiotensin receptor neprilysin inhibitor in inotrope dependent heart failure patients: A case series.

J Cardiovasc Thorac Res 2020 28;12(4):334-336. Epub 2020 Nov 28.

Rajaie Cardiovascular Medical and Research Center, Tehran, Iran.

Patients with advanced heart failure (HF) symptoms constitute stage D heart failure with high mortality and less response to conventional guideline directed medical therapies. These patients are subjected to receive non-medical therapies including heart transplant or mechanical circulatory support for increasing survival. Considering the low availability and serious complications of these strategies,effective medical therapies for this group of patients would be pivotal for decreasing mortality and morbidity of them. Angiotensin receptor neprilysin inhibitor (ARNI) is a class of drugs approved for ambulatory heart failure patients. ARNI use like other groups of heart failure drugs has not been fully evaluated in end-stage heart failure patients. Herein, we describe four inotrope-dependent heart failure patients. Initiation of ARNI in these patients, lead to discontinuation of inotrope and reducing the need for inotrope in the follow-up period.
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http://dx.doi.org/10.34172/jcvtr.2020.53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7828763PMC
November 2020

Heart failure with preserved ejection fraction in coronavirus disease 2019 patients: the promising role of diuretic therapy in critically ill patients.

ESC Heart Fail 2021 Jan 14. Epub 2021 Jan 14.

Department of Cardiology and Pneumology, Heart Center, University of Göttingen Medical Center, Göttingen, Germany.

The impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) on diastolic function is less known. We describe a 46-year-old man with a history of mild hypertension who presented to the emergency department with fever, cough, and myalgia for 2 days. The patient was tested positive for SARS-CoV-2. He was admitted and started on a combination of antiviral and antimicrobial therapy. He developed respiratory distress 2 days later, and O saturation declined. Blood tests showed an increased N-terminal pro-B type natriuretic peptide (NT-proBNP) level, and echocardiography showed normal left ventricular ejection fraction and E/e' ratio of 16. Computed tomography scan showed interstitial pulmonary oedema and prominent peripheral pulmonary vascular markings. Given these findings, heart failure with preserved ejection fraction (HFpEF) was considered. Low-dose diuretic was started, and fluid administration was restricted, resulting in a decrease in NT-proBNP level, clinical and haemodynamic stabilization, and improved oxygenation. This case highlights the occurrence of HFpEF in coronavirus disease 2019.
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http://dx.doi.org/10.1002/ehf2.13175DOI Listing
January 2021

Left Axis Deviation in Brugada Syndrome: Vectorcardiographic Evaluation during Ajmaline Provocation Testing Reveals Additional Depolarization Abnormalities.

Int J Mol Sci 2021 Jan 6;22(2). Epub 2021 Jan 6.

Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Cardiovascular Sciences, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

Patients with Brugada syndrome (BrS) can show a leftward deviation of the frontal QRS-axis upon provocation with sodium channel blockers. The cause of this axis change is unclear. In this study, we aimed to determine (1) the prevalence of this left axis deviation and (2) to evaluate its cause, using the insights that could be derived from vectorcardiograms. Hence, from a large cohort of patients who underwent ajmaline provocation testing ( = 1430), we selected patients in whom a type-1 BrS-ECG was evoked ( = 345). Depolarization and repolarization parameters were analyzed for reconstructed vectorcardiograms and were compared between patients with and without a >30° leftward axis shift. We found (1) that the prevalence of a left axis deviation during provocation testing was 18% and (2) that this left axis deviation was not explained by terminal conduction slowing in the right ventricular outflow tract (4th QRS-loop quartile: +17 ± 14 ms versus +13 ± 15 ms, nonsignificant) but was associated with a more proximal conduction slowing (1st QRS-loop quartile: +12[8;18] ms versus +8[4;12] ms, < 0.001 and 3rd QRS-loop quartile: +12 ± 10 ms versus +5 ± 7 ms, < 0.001). There was no important heterogeneity of the action potential morphology (no difference in the ventricular gradient), but a left axis deviation did result in a discordant repolarization (spatial QRS-T angle: 122[59;147]° versus 44[25;91]°, < 0.001). Thus, although the development of the type-1 BrS-ECG is characterized by a terminal conduction delay in the right ventricle, BrS-patients with a left axis deviation upon sodium channel blocker provocation have an additional proximal conduction slowing, which is associated with a subsequent discordant repolarization. Whether this has implications for risk stratification is still undetermined.
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http://dx.doi.org/10.3390/ijms22020484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7825029PMC
January 2021

Iranian Society of Cardiac Surgeons COVID-19 task force version II, restarting elective surgeries.

J Cardiovasc Thorac Res 2020 22;12(3):158-164. Epub 2020 Jul 22.

Department of Social Medicine, Rajaei Cardiovascular Medical & Research Center, Iran University of Medical Science, Tehran Iran.

Given the nature of heart disease and the importance of continuing heart surgery during the pandemic and its aftermath and in order to provide adequate safety for the surgical team and achieve the desired result for patients, as well as the optimal use of ICU beds, the medical team, blood, blood products, and personal protective equipment, it is essential to change the usual approach during the pandemic. There are still a lot of evidences and experiences needed to produce the perfect protocol. Some centers may have a special program for their centers during this period of epidemics that can be respected and performed. Generally, in pandemic conditions, the use of non-surgical approaches is preferred if similar outcomes can be obtained.
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http://dx.doi.org/10.34172/jcvtr.2020.28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7581843PMC
July 2020

Author`s Reply.

Anatol J Cardiol 2020 10;24(4):287-288

Department of Heart Failure and Transplantation, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences; Tehran-Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7585964PMC
October 2020

Intermediate versus standard-dose prophylactic anticoagulation and statin therapy versus placebo in critically-ill patients with COVID-19: Rationale and design of the INSPIRATION/INSPIRATION-S studies.

Thromb Res 2020 12 24;196:382-394. Epub 2020 Sep 24.

Cardiovascular Intervention Research Center, Rajaie Cardiovascular, Medical, and Research Center, Iran University of Medical Sciences, Iran; Clinical Trial Center, Rajaie Cardiovascular, Medical, and Research Center, Iran University of Medical Sciences, Iran. Electronic address:

Background: Microvascular and macrovascular thrombotic events are among the hallmarks of coronavirus disease 2019 (COVID-19). Furthermore, the exuberant immune response is considered an important driver of pulmonary and extrapulmonary manifestations of COVID-19. The optimal management strategy to prevent thrombosis in critically-ill patients with COVID-19 remains unknown.

Methods: The Intermediate versus Standard-dose Prophylactic anticoagulation In cRitically-ill pATIents with COVID-19: An opeN label randomized controlled trial (INSPIRATION) and INSPIRATION-statin (INSPIRATION-S) studies test two independent hypotheses within a randomized controlled trial with 2 × 2 factorial design. Hospitalized critically-ill patients with reverse transcription polymerase chain reaction confirmed COVID-19 will be randomized to intermediate-dose versus standard dose prophylactic anticoagulation. The 600 patients undergoing this randomization will be screened and if meeting the eligibility criteria, will undergo an additional double-blind stratified randomization to atorvastatin 20 mg daily versus matching placebo. The primary endpoint, for both hypotheses will be tested for superiority and includes a composite of adjudicated acute arterial thrombosis, venous thromboembolism (VTE), use of extracorporeal membrane oxygenation, or all-cause death within 30 days from enrollment. Key secondary endpoints include all-cause mortality, adjudicated VTE, and ventilator-free days. Key safety endpoints include major bleeding according to the Bleeding Academic Research Consortium definition and severe thrombocytopenia (platelet count <20,000/fL) for the anticoagulation hypothesis. In a prespecified secondary analysis for non-inferiority, the study will test for the non-inferiority of intermediate intensity versus standard dose anticoagulation for major bleeding, considering a non-inferiority margin of 1.8 based on odds ratio. Key safety endpoints for the statin hypothesis include rise in liver enzymes >3 times upper normal limit and clinically-diagnosed myopathy. The primary analyses will be performed in the modified intention-to-treat population. Results will be tested in exploratory analyses across key subgroups and in the intention-to-treat and per-protocol cohorts.

Conclusions: INSPIRATION and INSPIRATON-S studies will help address clinically-relevant questions for antithrombotic therapy and thromboinflammatory therapy in critically-ill patients with COVID-19.
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http://dx.doi.org/10.1016/j.thromres.2020.09.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7513771PMC
December 2020

Computer versus cardiologist: Is a machine learning algorithm able to outperform an expert in diagnosing a phospholamban p.Arg14del mutation on the electrocardiogram?

Heart Rhythm 2021 Jan 8;18(1):79-87. Epub 2020 Sep 8.

Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands.

Background: Phospholamban (PLN) p.Arg14del mutation carriers are known to develop dilated and/or arrhythmogenic cardiomyopathy, and typical electrocardiographic (ECG) features have been identified for diagnosis. Machine learning is a powerful tool used in ECG analysis and has shown to outperform cardiologists.

Objectives: We aimed to develop machine learning and deep learning models to diagnose PLN p.Arg14del cardiomyopathy using ECGs and evaluate their accuracy compared to an expert cardiologist.

Methods: We included 155 adult PLN mutation carriers and 155 age- and sex-matched control subjects. Twenty-one PLN mutation carriers (13.4%) were classified as symptomatic (symptoms of heart failure or malignant ventricular arrhythmias). The data set was split into training and testing sets using 4-fold cross-validation. Multiple models were developed to discriminate between PLN mutation carriers and control subjects. For comparison, expert cardiologists classified the same data set. The best performing models were validated using an external PLN p.Arg14del mutation carrier data set from Murcia, Spain (n = 50). We applied occlusion maps to visualize the most contributing ECG regions.

Results: In terms of specificity, expert cardiologists (0.99) outperformed all models (range 0.53-0.81). In terms of accuracy and sensitivity, experts (0.28 and 0.64) were outperformed by all models (sensitivity range 0.65-0.81). T-wave morphology was most important for classification of PLN p.Arg14del carriers. External validation showed comparable results, with the best model outperforming experts.

Conclusion: This study shows that machine learning can outperform experienced cardiologists in the diagnosis of PLN p.Arg14del cardiomyopathy and suggests that the shape of the T wave is of added importance to this diagnosis.
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http://dx.doi.org/10.1016/j.hrthm.2020.08.021DOI Listing
January 2021

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Authors:
Roddy Walsh Najim Lahrouchi Rafik Tadros Florence Kyndt Charlotte Glinge Pieter G Postema Ahmad S Amin Eline A Nannenberg James S Ware Nicola Whiffin Francesco Mazzarotto Doris Škorić-Milosavljević Christian Krijger Elena Arbelo Dominique Babuty Hector Barajas-Martinez Britt M Beckmann Stéphane Bézieau J Martijn Bos Jeroen Breckpot Oscar Campuzano Silvia Castelletti Candan Celen Sebastian Clauss Anniek Corveleyn Lia Crotti Federica Dagradi Carlo de Asmundis Isabelle Denjoy Sven Dittmann Patrick T Ellinor Cristina Gil Ortuño Carla Giustetto Jean-Baptiste Gourraud Daisuke Hazeki Minoru Horie Taisuke Ishikawa Hideki Itoh Yoshiaki Kaneko Jørgen K Kanters Hiroki Kimoto Maria-Christina Kotta Ingrid P C Krapels Masahiko Kurabayashi Julieta Lazarte Antoine Leenhardt Bart L Loeys Catarina Lundin Takeru Makiyama Jacques Mansourati Raphaël P Martins Andrea Mazzanti Stellan Mörner Carlo Napolitano Kimie Ohkubo Michael Papadakis Boris Rudic Maria Sabater Molina Frédéric Sacher Hatice Sahin Georgia Sarquella-Brugada Regina Sebastiano Sanjay Sharma Mary N Sheppard Keiko Shimamoto M Benjamin Shoemaker Birgit Stallmeyer Johannes Steinfurt Yuji Tanaka David J Tester Keisuke Usuda Paul A van der Zwaag Sonia Van Dooren Lut Van Laer Annika Winbo Bo G Winkel Kenichiro Yamagata Sven Zumhagen Paul G A Volders Steven A Lubitz Charles Antzelevitch Pyotr G Platonov Katja E Odening Dan M Roden Jason D Roberts Jonathan R Skinner Jacob Tfelt-Hansen Maarten P van den Berg Morten S Olesen Pier D Lambiase Martin Borggrefe Kenshi Hayashi Annika Rydberg Tadashi Nakajima Masao Yoshinaga Johan B Saenen Stefan Kääb Pedro Brugada Tomas Robyns Daniela F Giachino Michael J Ackerman Ramon Brugada Josep Brugada Juan R Gimeno Can Hasdemir Pascale Guicheney Silvia G Priori Eric Schulze-Bahr Naomasa Makita Peter J Schwartz Wataru Shimizu Takeshi Aiba Jean-Jacques Schott Richard Redon Seiko Ohno Vincent Probst Elijah R Behr Julien Barc Connie R Bezzina

Genet Med 2021 Jan 7;23(1):47-58. Epub 2020 Sep 7.

Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate.

Methods: We compared rare variant frequencies from 1847 LQTS (KCNQ1/KCNH2/SCN5A) and 3335 BrS (SCN5A) cases from the International LQTS/BrS Genetics Consortia to population-specific gnomAD data and developed disease-specific criteria for ACMG/AMP evidence classes-rarity (PM2/BS1 rules) and case enrichment of individual (PS4) and domain-specific (PM1) variants.

Results: Rare SCN5A variant prevalence differed between European (20.8%) and Japanese (8.9%) BrS patients (p = 5.7 × 10) and diagnosis with spontaneous (28.7%) versus induced (15.8%) Brugada type 1 electrocardiogram (ECG) (p = 1.3 × 10). Ion channel transmembrane regions and specific N-terminus (KCNH2) and C-terminus (KCNQ1/KCNH2) domains were characterized by high enrichment of case variants and >95% probability of pathogenicity. Applying the customized rules, 17.4% of European BrS and 74.8% of European LQTS cases had (likely) pathogenic variants, compared with estimated diagnostic yields (case excess over gnomAD) of 19.2%/82.1%, reducing VUS prevalence to close to background rare variant frequency.

Conclusion: Large case-control data sets enable quantitative implementation of ACMG/AMP guidelines and increased sensitivity for inherited arrhythmia genetic testing.
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http://dx.doi.org/10.1038/s41436-020-00946-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7790744PMC
January 2021

Central Nervous System and Cardiac Involvement in the Hypereosinophilic Syndrome: A Case Report.

Immunol Invest 2020 Jul 27:1-7. Epub 2020 Jul 27.

Department of internal medicine, Iran University of Medical Sciences , Tehran, Iran.

Hypereosinophilic syndrome is a rare entity and heterogeneous group of disorders characterized by hypereosinophilia and organ involvement. In this study, we presented a 49-year-old woman with cardiac tamponade in the context of Hypereosinophilic syndrome. Identifying hypereosinophilia as the underlying cause can have tremendous clinical implications for rapid initiation of appropriate treatment to minimize further end organ damage.
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http://dx.doi.org/10.1080/08820139.2020.1758131DOI Listing
July 2020

Common and rare susceptibility genetic variants predisposing to Brugada syndrome in Thailand.

Heart Rhythm 2020 Dec 30;17(12):2145-2153. Epub 2020 Jun 30.

Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; Pacific Rim Electrophysiology Research Institute, Bumrungrad Hospital, Bangkok, Thailand.

Background: Mutations in SCN5A are rarely found in Thai patients with Brugada syndrome (BrS). Recent evidence suggested that common genetic variations may underlie BrS in a complex inheritance model.

Objective: The purpose of this study was to find common and rare/low-frequency genetic variants predisposing to BrS in persons in Thailand.

Methods: We conducted a genome-wide association study (GWAS) to explore the association of common variants in 154 Thai BrS cases and 432 controls. We sequenced SCN5A in 131 cases and 205 controls. Variants were classified according to current guidelines, and case-control association testing was performed for rare and low-frequency variants.

Results: Two loci were significantly associated with BrS. The first was near SCN5A/SCN10A (lead marker rs10428132; odds ratio [OR] 2.4; P = 3 × 10). Conditional analysis identified a novel independent signal in the same locus (rs6767797; OR 2.3; P = 2.7 × 10). The second locus was near HEY2 (lead marker rs3734634; OR 2.5; P = 7 × 10). Rare (minor allele frequency [MAF] <0.0001) coding variants in SCN5A were found in 8 of the 131 cases (6.1% in cases vs 2.0% in controls; P = .046; OR 3.3; 95% confident interval [CI] 1.0-11.1), but an enrichment of low-frequency (MAF<0.001 and >0.0001) variants also was observed in cases, with 1 variant (SCN5A: p.Arg965Cys) detected in 4.6% of Thai BrS patients vs 0.5% in controls (P = 0.015; OR 9.8; 95% CI 1.2-82.3).

Conclusion: The genetic basis of BrS in Thailand includes a wide spectrum of variant frequencies and effect sizes. As previously shown in European and Japanese populations, common variants near SCN5A and HEY2 are associated with BrS in the Thai population, confirming the transethnic transferability of these 2 major BrS loci.
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http://dx.doi.org/10.1016/j.hrthm.2020.06.027DOI Listing
December 2020

Cardio-oncology discipline: focus on the necessities in developing countries.

ESC Heart Fail 2020 10 30;7(5):2175-2183. Epub 2020 Jun 30.

Echocardiography Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.

Cardiovascular diseases constitute one of the main aetiologies of mortality among patients with cancer. Population ageing and cancer survival rate improvements have resulted in the coexistence of cardiovascular diseases and malignancies in an increasing number of patients. With the diversity in treatments and the introduction of new drug lines, multiple mechanisms of cardiovascular injury have been recognized in these patients. Cardio-oncology is an emerging entity introduced to provide a proper solution to the several challenges encountered in the management of patients with cancer and cardiac involvement. This review will assess the logical grounds for establishing a cardio-oncology unit, describe the main objectives and the detailed responsibilities in such systems, and outline the target population. Furthermore, the importance of research and appropriate data collection will be highlighted. Lastly, the special considerations and modifications required for setting up such centres in the developing countries are discussed.
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http://dx.doi.org/10.1002/ehf2.12838DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7524122PMC
October 2020

SCN5a overlap syndromes-This episode: Long QT syndrome type 3 meets multifocal ectopic Purkinje-related premature contractions.

Authors:
Ahmad S Amin

Heart Rhythm 2020 Oct 1;17(10):1777-1778. Epub 2020 Jun 1.

Amsterdam University Medical Centers, Academic Medical Center, Heart Center, Department of Cardiology, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2020.05.033DOI Listing
October 2020

Takotsubo syndrome without major stress mimicking myocarditis.

Anatol J Cardiol 2020 06;23(6):349-350

Department of Heart Failure and Transplantation, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences; Tehran-Iran.

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http://dx.doi.org/10.14744/AnatolJCardiol.2020.45773DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7414244PMC
June 2020

Speckle tracking echocardiography in hypokinetic non-dilated cardiomyopathy: comparison with dilated cardiomyopathy.

ESC Heart Fail 2020 08 19;7(4):1909-1916. Epub 2020 May 19.

Shahid Rajaie Cardiovascular, Medical & Research Center, Tehran, Iran.

Aims: Hypokinetic non-dilated cardiomyopathy (HNDC), which is determined by impaired left ventricular (LV) systolic function despite normal LV size, has been categorized as a subgroup of dilated cardiomyopathy (DCM) spectrum. Lack of data regarding advanced echocardiographic data in this population motivated us to design the present study in order to assess LV myocardial deformation properties of HNDC patients against the ones with dilated left ventricle.

Methods And Results: Thirty-one HNDC patients and 23 DCM patients were enrolled in the study consecutively. Myocardial deformation parameters including global longitudinal strain, global circumferential strain, LV basal and apical rotation, LV twist, and LV mechanical dispersion were obtained with the use of two-dimensional speckle tracking-based methods in all patients. Left cardiac chamber volume was also measured using three-dimensional HeartModel application. Patients with enlarged left ventricle tend to have lower LV ejection fraction. Comparing with HNDC group, DCM patients showed worse global circumferential strain (coefficient ± standard error 3.59 ± 0.94, P < 0.001) and LV mechanical dispersion (coefficient ± standard error 16.46 ± 7.09, P = 0.02) after regression analysis, while neither the global longitudinal strain nor the LV twist was not significantly different between two study population.

Conclusions: Left ventricular enlargement has a substantial effect on the circumferential strain and mechanical dispersion more than other deformation parameters that may play a role in the assumed poor prognosis of heart failure patients with dilated left ventricle.
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http://dx.doi.org/10.1002/ehf2.12764DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373909PMC
August 2020

Saw tooth cardiomyopathy: a case report.

ESC Heart Fail 2020 02;7(1):325-328

Rajaie Cardiovascular Medical and Research Center, Valiasr Avenue, Hashemi Rafsanjani Boulevard, Tehran, Iran.

Saw tooth cardiomyopathy is an unusual and rare type of left ventricular dysplasia that is characterized by multiple projections of compacted myocardium that makes the appearance of 'saw tooth' in noninvasive imaging. We present a young man with signs and symptoms of heart failure and reduced left ventricular function in echocardiography who showed distinctive left ventricle features of saw tooth cardiomyopathy (saw tooth appearance of myocardium in basal inferolateral and basal to mid lateral segments) in cardiac magnetic resonance imaging.
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http://dx.doi.org/10.1002/ehf2.12574DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7083504PMC
February 2020

Rivaroxaban in patients undergoing surgical mitral valve repair.

J Thromb Thrombolysis 2020 Apr;49(3):475-479

Heart Valve Diseases Research Center, Rajaie Cardiovascular, Medical, and Research Center, Iran University of Medical Sciences, Vali-Asr Ave, 1995614331, Tehran, Iran.

In patients undergoing mitral valve repair (MVre), a 3-month course of anticoagulation is currently recommended. The role of the non-vitamin K antagonist oral anticoagulants has here been scarcely studied. In the present mixed cohort study, the safety and efficacy of rivaroxaban (prospective analysis) were compared with those of warfarin (retrospective analysis) in patients undergoing MVre. Anticoagulation therapy was continued for at least 3 months, and the patients were followed for 1 year following surgery. The present study recruited 736 patients undergoing MVre with or without concomitant coronary artery bypass or surgical repair on the other valves. Concomitant valvular replacement and severe chronic kidney diseases were the most important exclusion criteria. The final analysis was conducted on 153 patients treated with rivaroxaban and 144 patients treated with warfarin. Dissimilarities in baseline characteristics necessitated propensity score matching, in which 104 patients in each group were compared. No major bleeding or cerebrovascular accident occurred during the 1-year follow-up. Clinically relevant non-major bleeding was reported in 2 patients in the rivaroxaban group and 4 patients in the warfarin group, a difference non-statistically significant before and after propensity score matching (P = 0.371 and P = 0.407, respectively). The type of anticoagulation did not predict the 1-year outcome (HR 2.165, 95% CI 0.376 to 12.460; P = 0.387). In this mixed cohort study, rivaroxaban was both safe and efficient in patients with MVre. Such preliminary results should prompt larger randomized controlled trials.
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http://dx.doi.org/10.1007/s11239-020-02046-2DOI Listing
April 2020

An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.

Circulation 2020 02 27;141(6):418-428. Epub 2020 Jan 27.

Division of Cardiology, Toronto General Hospital and University of Toronto, Canada (A.A, M.C., M.H.G.).

Background: Long QT syndrome (LQTS) is the first described and most common inherited arrhythmia. Over the last 25 years, multiple genes have been reported to cause this condition and are routinely tested in patients. Because of dramatic changes in our understanding of human genetic variation, reappraisal of reported genetic causes for LQTS is required.

Methods: Utilizing an evidence-based framework, 3 gene curation teams blinded to each other's work scored the level of evidence for 17 genes reported to cause LQTS. A Clinical Domain Channelopathy Working Group provided a final classification of these genes for causation of LQTS after assessment of the evidence scored by the independent curation teams.

Results: Of 17 genes reported as being causative for LQTS, 9 () were classified as having limited or disputed evidence as LQTS-causative genes. Only 3 genes () were curated as definitive genes for typical LQTS. Another 4 genes () were found to have strong or definitive evidence for causality in LQTS with atypical features, including neonatal atrioventricular block. The remaining gene () had moderate level evidence for causing LQTS.

Conclusions: More than half of the genes reported as causing LQTS have limited or disputed evidence to support their disease causation. Genetic variants in these genes should not be used for clinical decision-making, unless accompanied by new and sufficient genetic evidence. The findings of insufficient evidence to support gene-disease associations may extend to other disciplines of medicine and warrants a contemporary evidence-based evaluation for previously reported disease-causing genes to ensure their appropriate use in precision medicine.
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http://dx.doi.org/10.1161/CIRCULATIONAHA.119.043132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017940PMC
February 2020

The Relationship Between Spiritual Health and Quality of Life of Heart Transplant Candidates.

J Relig Health 2020 Jun;59(3):1652-1665

Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.

The heart transplantation is a stressful event, and its waiting time is often associated with worsening of clinical conditions and deterioration of the patient's quality of life. Spirituality plays an important role in mental health, so the present study was conducted to investigate the relationship between spiritual health and quality of life of patients undergoing cardiac transplantation. The present descriptive study was performed on 48 patients undergoing cardiac transplantation at the Shahid Rajaee Cardiovascular Center in Tehran during the first half of 2016. The data were collected by Ellisan-Palutzian Spiritual Well-Being Scale, Minnesota Living with Heart Failure Questionnaire (MLHFQ) and Iranian Heart Failure Quality of Life Questionnaire (IHF-QOL). We used the SPSS v.20 software to analyze the data via descriptive statistics, parametric and non-parametric correlation and regression tests. The majority of patients (60.4%) had high spiritual health with a median score of 105, and its religious dimension was reported better (P < 0.001 and r = 0.591). With a mean of 63.23 ± 23.25, the quality of life of the majority of patients (75%) was at a poor level based on the Minnesota questionnaire. According to the IHF-QOL, the median total score was 39.50. There was a significant relationship between spiritual health score and quality of life in both questionnaires (MLHFQ: P = 0.006 and r = - 394; IHF-QOL: P = 0.022 and r = 0.329). Considering the positive relationship between spiritual health and quality of life of patients in this study, it is recommended to implement spiritual care and provide fulfillment for various needs of patients along with other medical care services.
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http://dx.doi.org/10.1007/s10943-019-00950-3DOI Listing
June 2020

How Left Ventricular Size Affects Severity of Disease and Long-term Prognosis in Patients with Severe Systolic Dysfunction?

Crit Pathw Cardiol 2020 03;19(1):37-42

Division of Cardiovascular Medicine, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA.

Background: We compared the severity of disease, heart failure (HF) rehospitalization and trend of changes over a 12-month follow-up in clinical and biochemical measurements between dilated cardiomyopathy (DCM) patients and those with left ventricular systolic dysfunction with normal LV size (NLVS). The existing definition of DCM failed to justify our observations in some clinical circumstances resulting in diagnostic and prognostic challenges.

Methods: A total of 77 patients [52 (67.5%) male] including 40 patients in the NLVS group and 37 patients in the DCM group were enrolled and followed up for a median of 12 months [interquartile range, 11-14 months].

Results: Mean left ventricular ejection fraction was statistically comparable between NLVS and DCM patients (22 ± 8% vs. 19 ± 6%, P = 0.08]. The New York Heart Association class was statistically comparable in both groups (P = 0.23). Laboratory measurements including hemoglobin, sodium, creatinine, uric acid, and NT-proBNP level were also statistically similar in both groups (all P > 0.05). During follow-up, HF rehospitalization occurred in 16 (76%) patients in NLVS and 5 (24%) patients in DCM groups (P = 0.009). Except for left ventricular ejection fraction which improved in both NLVS and DCM groups, no significant changes were observed in clinical (New York Heart Association class) and laboratory measurements during follow-up in both NLVS and DCM groups.

Conclusions: Our study showed that NLVS defines a group of systolic HF patients which not only did not have less severe disease than those with enlarged left ventricules (i.e., DCM), also had more HF rehospitalization. These NLVS patients also had steady clinical, laboratory, and echocardiographic profile during follow-up.
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http://dx.doi.org/10.1097/HPC.0000000000000198DOI Listing
March 2020

Predicting cardiac electrical response to sodium-channel blockade and Brugada syndrome using polygenic risk scores.

Eur Heart J 2019 10;40(37):3097-3107

Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, Meibergdreef 9, AZ Amsterdam, The Netherlands.

Aims: Sodium-channel blockers (SCBs) are associated with arrhythmia, but variability of cardiac electrical response remains unexplained. We sought to identify predictors of ajmaline-induced PR and QRS changes and Type I Brugada syndrome (BrS) electrocardiogram (ECG).

Methods And Results: In 1368 patients that underwent ajmaline infusion for suspected BrS, we performed measurements of 26 721 ECGs, dose-response mixed modelling and genotyping. We calculated polygenic risk scores (PRS) for PR interval (PRSPR), QRS duration (PRSQRS), and Brugada syndrome (PRSBrS) derived from published genome-wide association studies and used regression analysis to identify predictors of ajmaline dose related PR change (slope) and QRS slope. We derived and validated using bootstrapping a predictive model for ajmaline-induced Type I BrS ECG. Higher PRSPR, baseline PR, and female sex are associated with more pronounced PR slope, while PRSQRS and age are positively associated with QRS slope (P < 0.01 for all). PRSBrS, baseline QRS duration, presence of Type II or III BrS ECG at baseline, and family history of BrS are independently associated with the occurrence of a Type I BrS ECG, with good predictive accuracy (optimism-corrected C-statistic 0.74).

Conclusion: We show for the first time that genetic factors underlie the variability of cardiac electrical response to SCB. PRSBrS, family history, and a baseline ECG can predict the development of a diagnostic drug-induced Type I BrS ECG with clinically relevant accuracy. These findings could lead to the use of PRS in the diagnosis of BrS and, if confirmed in population studies, to identify patients at risk for toxicity when given SCB.
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http://dx.doi.org/10.1093/eurheartj/ehz435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6769824PMC
October 2019

Nanoscale Technologies for Prevention and Treatment of Heart Failure: Challenges and Opportunities.

Chem Rev 2019 11 6;119(21):11352-11390. Epub 2019 Sep 6.

Precision Health Program , Michigan State University , East Lansing , Michigan 48824 , United States.

The adult myocardium has a limited regenerative capacity following heart injury, and the lost cells are primarily replaced by fibrotic scar tissue. Suboptimal efficiency of current clinical therapies to resurrect the infarcted heart results in injured heart enlargement and remodeling to maintain its physiological functions. These remodeling processes ultimately leads to ischemic cardiomyopathy and heart failure (HF). Recent therapeutic approaches (e.g., regenerative and nanomedicine) have shown promise to prevent HF postmyocardial infarction in animal models. However, these preclinical, clinical, and technological advancements have yet to yield substantial enhancements in the survival rate and quality of life of patients with severe ischemic injuries. This could be attributed largely to the considerable gap in knowledge between clinicians and nanobioengineers. Development of highly effective cardiac regenerative therapies requires connecting and coordinating multiple fields, including cardiology, cellular and molecular biology, biochemistry and chemistry, and mechanical and materials sciences, among others. This review is particularly intended to bridge the knowledge gap between cardiologists and regenerative nanomedicine experts. Establishing this multidisciplinary knowledge base may help pave the way for developing novel, safer, and more effective approaches that will enable the medical community to reduce morbidity and mortality in HF patients.
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http://dx.doi.org/10.1021/acs.chemrev.8b00323DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7003249PMC
November 2019

Chronic thromboembolic pulmonary hypertension versus fibrosing mediastinitis.

Anatol J Cardiol 2019 Feb;21(2):E4-E5

Cardiovascular Intervention Research Center, Iran University of Medical Sciences; Tehran-Iran.

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http://dx.doi.org/10.14744/AnatolJCardiol.2018.12258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6457413PMC
February 2019

Vulvar cancer association with groin hidradenitis suppurativa: A large, urban, midwestern US patient population study.

J Am Acad Dermatol 2019 03 18;80(3):808-810. Epub 2018 Oct 18.

Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2018.10.008DOI Listing
March 2019

Echocardiographic predictors of worsening renal function in acute heart failure: observations from the RASHF registry.

ESC Heart Fail 2018 12 18;5(6):1060-1068. Epub 2018 Oct 18.

Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.

Aims: Echocardiography is known as the most useful diagnostic test in the assessment of patients with heart failure (HF), and the prognostic significance of echocardiographic findings in HF is well known. In this report, we aim to present the prognostic significance of a limited set of echocardiographic parameters obtained within 24 h of admission of patients enrolled in the Rajaie Acute Systolic Heart Failure registry.

Methods And Results: A total of 230 patients with the diagnosis of acute systolic HF (left ventricular ejection fraction ≤ 35%) were enrolled into the study. Transthoracic echocardiography was performed for all study population within 24 h of admission. The primary endpoint of the study was the occurrence of worsening renal function (WRF) during the hospitalization course.Acquiring data of transthoracic echocardiography within 24 h of admission was feasible in all study participants. The median (inter-quartile range) of left ventricular ejection fraction was 20% (15-23%). Severe right ventricular dysfunction was observed in 21.5% of patients. The grade of inferior vena cava collapse and right ventricular systolic dysfunction were associated with WRF. In multivariable analysis, right ventricular systolic dysfunction was among the independent predictors of WRF [β = 0.8, P = 0.01, odds ratio (OR) = 2.4 (1.2-4.9)] and in-hospital mortality [β = 0.6, P = 0.04, OR = 1.5 (0.5-4.6)].

Conclusions: Echocardiographic parameters are useful for baseline assessment and provide additional information besides other clinical variables for prognostication. Right ventricular dysfunction is the most important risk factor in developing WRF and in-hospital mortality in patients with acute HF.
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http://dx.doi.org/10.1002/ehf2.12358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6300822PMC
December 2018

Disease Modifiers of Inherited Channelopathy.

Front Cardiovasc Med 2018 1;5:137. Epub 2018 Oct 1.

Department of Clinical and Experimental Cardiology, Heart Centre, Academic Medical Center, Amsterdam, Netherlands.

To date, a large number of mutations in , the gene encoding the pore-forming α-subunit of the primary cardiac Na channel (Na1.5), have been found in patients presenting with a wide range of ECG abnormalities and cardiac syndromes. Although these mutations all affect the same Na1.5 channel, the associated cardiac syndromes each display distinct phenotypical and biophysical characteristics. Variable disease expressivity has also been reported, where one particular mutation in may lead to either one particular symptom, a range of various clinical signs, or no symptoms at all, even within one single family. Additionally, disease severity may vary considerably between patients carrying the same mutation. The exact reasons are unknown, but evidence is increasing that various cardiac and non-cardiac conditions can influence the expressivity and severity of inherited channelopathies. In this review, we provide a summary of identified disease entities caused by mutations, and give an overview of co-morbidities and other (non)-genetic factors which may modify channelopathies. A comprehensive knowledge of these modulatory factors is not only essential for a complete understanding of the diverse clinical phenotypes associated with mutations, but also for successful development of effective risk stratification and (alternative) treatment paradigms.
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http://dx.doi.org/10.3389/fcvm.2018.00137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174200PMC
October 2018

Response to letter from Drs. Li et al. regarding our paper in Int. J. Cardiol. 2018. Doi: 10.1016/j.ijcard.2017.09.010: SCN5A mutation type and topology are associated with the risk of ventricular arrhythmia by sodium channel blockers.

Int J Cardiol 2018 11;271:124

Heart Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ijcard.2018.06.021DOI Listing
November 2018

Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, and Cardiomyopathy.

JACC Clin Electrophysiol 2018 05 2;4(5):569-579. Epub 2018 May 2.

Heart Centre Academic Medical Center, Department of Clinical and Experimental Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

SCN5A gene encodes the pore-forming ion-conducting α-subunit of the cardiac sodium channel (Na1.5), which is responsible for the initiation and propagation of action potentials and thereby determines cardiac excitability and conduction of electrical stimuli through the heart. The importance of Na1.5 for normal cardiac electricity is reflected by various disease entities that can be caused by mutations in SCN5A. Gain-of-function mutations in SCN5A lead to more sodium influx into cardiomyocytes through aberrant channel gating and cause long QT syndrome, a primary electrical disease of the heart. Loss-of-function mutations in SCN5A lead to lower expression levels of SCN5A or production of defective Na1.5 proteins and cause Brugada syndrome, an electrical disease with minor structural changes in the heart. In addition, both loss- and gain-of-function mutations may cause dilated cardiomyopathy, which is an arrhythmogenic disease with gross structural defects of the left ventricle (and sometimes both ventricles). Other SCN5A-related diseases are multifocal ectopic premature Purkinje-related complexes (gain-of-function mutations), isolated cardiac conduction defect (loss-of-function mutations), sick sinus syndrome (loss-of-function mutations), atrial fibrillation (loss-of-function or gain-of-function mutations), and overlap syndromes (mutations with both loss-of-function and gain-of-function effects). Growing insights into the role of SCN5A in health and disease has enabled clinicians to lay out gene-specific risk stratification schemes and mutation-specific diagnostic and therapeutic strategies in the management of patients with a SCN5A mutation. This review summarizes currently available knowledge about the pathophysiological mechanisms of SCN5A mutations and describes how this knowledge can be used to manage patients suffering from potentially lethal cardiac diseases.
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http://dx.doi.org/10.1016/j.jacep.2018.03.006DOI Listing
May 2018

Yield and Pitfalls of Ajmaline Testing in the Evaluation of Unexplained Cardiac Arrest and Sudden Unexplained Death: Single-Center Experience With 482 Families.

JACC Clin Electrophysiol 2017 12 28;3(12):1400-1408. Epub 2017 Jun 28.

Heart Center, Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, the Netherlands. Electronic address:

Objectives: This study evaluated the yield of ajmaline testing and assessed the occurrence of confounding responses in a large cohort of families with unexplained cardiac arrest (UCA) or sudden unexplained death (SUD).

Background: Ajmaline testing to diagnose Brugada syndrome (BrS) is routinely used in the evaluation of SUD and UCA, but its yield, limitations, and appropriate dosing have not been studied in a large cohort.

Methods: We assessed ajmaline test response and genetic testing results in 637 individuals from 482 families who underwent ajmaline testing for SUD or UCA.

Results: Overall, 89 individuals (14%) from 88 families (18%) had a positive ajmaline test result. SCN5A mutations were identified in 9 of 86 ajmaline-positive cases (10%). SCN5A mutation carriers had positive test results at significantly lower ajmaline doses than noncarriers (0.75 [range: 0.64 to 0.98] mg/kg vs. 1.03 [range: 0.95 to 1.14] mg/kg, respectively; p < 0.01). In 7 of 88 families (8%), it was concluded that the positive ajmaline response was a confounder, either in the presence of an alternative genetic diagnosis accounting for UCA/SUD (5 cases) or noncosegregation of positive ajmaline response and arrhythmia (2 cases). The rate of confounding responses was significantly higher in positive ajmaline responses obtained at >1 mg/kg than in those obtained at ≤1 mg/kg (7 of 48 vs. 0 of 41 individuals; Fisher's exact test: p = 0.014).

Conclusions: In line with previous, smaller studies, a positive ajmaline response was observed in a large proportion of UCA/SUD families. Importantly, our data emphasize the potential for confounding possibly false-positive ajmaline responses in this population, particularly at high doses, which could possibly lead to a misdiagnosis. Clinicians should consider all alternative causes in UCA/SUD and avoid ajmaline doses >1 mg/kg.
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http://dx.doi.org/10.1016/j.jacep.2017.04.005DOI Listing
December 2017