Helle , E , Pihkala , J , Turunen , R , Ruotsalainen , H , Tuupanen , S , Koskenvuo , J & Ojala , T 2020 , ' Rare Variants in Genes Associated With Cardiomyopathy Are Not Common in Hypoplastic Left Heart Syndrome Patients With Myocardial Dysfunction ' , Frontiers in pediatrics , vol. 8 , 596840 . https://doi.org/10.3389/fped.2020.596840
Title: | Rare Variants in Genes Associated With Cardiomyopathy Are Not Common in Hypoplastic Left Heart Syndrome Patients With Myocardial Dysfunction |
Author: | Helle, Emmi; Pihkala, Jaana; Turunen, Riitta; Ruotsalainen, Hanna; Tuupanen, Sari; Koskenvuo, Juha; Ojala, Tiina |
Contributor organization: | STEMM - Stem Cells and Metabolism Research Program HUS Children and Adolescents Kivelä Lab Research Programs Unit Children's Hospital Helsinki University Hospital Area University of Helsinki Lastentautien yksikkö Faculty of Medicine Clinicum |
Date: | 2020-10-30 |
Language: | eng |
Number of pages: | 5 |
Belongs to series: | Frontiers in pediatrics |
ISSN: | 2296-2360 |
DOI: | https://doi.org/10.3389/fped.2020.596840 |
URI: | http://hdl.handle.net/10138/322109 |
Abstract: | Myocardial dysfunction is a known risk factor for morbidity and mortality in hypoplastic left heart syndrome (HLHS). Variants in some transcription factor and contractility genes, which are known to cause cardiomyopathy, have previously been associated with impaired right ventricular function in some HLHS patients. The care of HLHS patients is resource demanding. Identifying genetic variants associated with myocardial dysfunction would be helpful in tailoring the follow-up and therapeutic strategies. We tested whether a commercial cardiomyopathy gene panel could serve as a diagnostic tool in a Finnish cohort of HLHS patients with impaired right ventricular function to identify potentially pathogenic variants associated with poor prognosis. None of the patients had pathogenic or likely pathogenic variants in the studied cardiomyopathy-associated genes. Thus, our approach of performing a cardiomyopathy gene panel to identify pathogenic variants as directly causal or as modifiers for worse outcomes in hypoplastic left heart syndrome is not useful in clinical practice at the moment. |
Subject: |
3123 Gynaecology and paediatrics
hypoplastic left heart syndrome congenital heart defects genetics precision medicine heart failure right ventricle dysfunction right heart failure myocardial dysfunction hypoplastic left heart syndrome congenital heart defects genetics precision medicine heart failure right ventricle dysfunction right heart failure myocardial dysfunction LEFT-VENTRICULAR NONCOMPACTION NOTCH1 MUTATIONS DE-NOVO DEFECTS DISEASE IDENTIFICATION PREVALENCE FAILURE |
Peer reviewed: | Yes |
Rights: | cc_by |
Usage restriction: | openAccess |
Self-archived version: | publishedVersion |
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