Compound Mutation in Cardiac Sarcomere Proteins Is Associated with Increased Risk for Major Arrhythmic Events in Pediatric Onset Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is associated with adverse left ventricular (LV) remodeling causing dysfunction and malignant arrhythmias. Severely affected patients present with disease onset during childhood and sudden cardiac death risk (SCD) stratification is of the highest importance in this...

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Autores principales:	Kathrin Pollmann, Emanuel Kaltenecker, Julia Schleihauf, Peter Ewert, Agnes Görlach, Cordula M. Wolf
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	pediatric onset hypertrophic cardiomyopathy major arrhythmic events sudden cardiac death risk stratification genotype–phenotype association Medicine R
Acceso en línea:	https://doaj.org/article/56fe6d338de242908ba8135881ab8790
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spelling	oai:doaj.org-article:56fe6d338de242908ba8135881ab87902021-11-25T18:00:57ZCompound Mutation in Cardiac Sarcomere Proteins Is Associated with Increased Risk for Major Arrhythmic Events in Pediatric Onset Hypertrophic Cardiomyopathy10.3390/jcm102252562077-0383https://doaj.org/article/56fe6d338de242908ba8135881ab87902021-11-01T00:00:00Zhttps://www.mdpi.com/2077-0383/10/22/5256https://doaj.org/toc/2077-0383Hypertrophic cardiomyopathy (HCM) is associated with adverse left ventricular (LV) remodeling causing dysfunction and malignant arrhythmias. Severely affected patients present with disease onset during childhood and sudden cardiac death risk (SCD) stratification is of the highest importance in this cohort. This study aimed to investigate genotype–phenotype association regarding clinical outcome and disease progression in pediatric onset HCM. Medical charts from forty-nine patients with pediatric HCM who had undergone genetic testing were reviewed for retrospective analysis. Demographic, clinical, transthoracic echocardiographic, electrocardiographic, long-term electrocardiogram, cardiopulmonary exercise test, cardiac magnetic resonance, and medication data were recorded. Childhood onset HCM was diagnosed in 29 males and 20 females. Median age at last follow-up was 18.7 years (range 2.6–51.7 years) with a median follow-up time since diagnosis of 8.5 years (range 0.2–38.0 years). Comparison of patients carrying mutations in distinct genes and comparison of genotype-negative with genotype-positive individuals, revealed no differences in functional classification, LV morphology, hypertrophy, systolic and diastolic function, fibrosis and cardiac medication. Patients with compound mutations had a significantly higher risk for major arrhythmic events than a single-mutation carrier. No association between affected genes and disease severity or progression was identified in this cohort.Kathrin PollmannEmanuel KalteneckerJulia SchleihaufPeter EwertAgnes GörlachCordula M. WolfMDPI AGarticlepediatric onset hypertrophic cardiomyopathymajor arrhythmic eventssudden cardiac death risk stratificationgenotype–phenotype associationMedicineRENJournal of Clinical Medicine, Vol 10, Iss 5256, p 5256 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	pediatric onset hypertrophic cardiomyopathy major arrhythmic events sudden cardiac death risk stratification genotype–phenotype association Medicine R
spellingShingle	pediatric onset hypertrophic cardiomyopathy major arrhythmic events sudden cardiac death risk stratification genotype–phenotype association Medicine R Kathrin Pollmann Emanuel Kaltenecker Julia Schleihauf Peter Ewert Agnes Görlach Cordula M. Wolf Compound Mutation in Cardiac Sarcomere Proteins Is Associated with Increased Risk for Major Arrhythmic Events in Pediatric Onset Hypertrophic Cardiomyopathy
description	Hypertrophic cardiomyopathy (HCM) is associated with adverse left ventricular (LV) remodeling causing dysfunction and malignant arrhythmias. Severely affected patients present with disease onset during childhood and sudden cardiac death risk (SCD) stratification is of the highest importance in this cohort. This study aimed to investigate genotype–phenotype association regarding clinical outcome and disease progression in pediatric onset HCM. Medical charts from forty-nine patients with pediatric HCM who had undergone genetic testing were reviewed for retrospective analysis. Demographic, clinical, transthoracic echocardiographic, electrocardiographic, long-term electrocardiogram, cardiopulmonary exercise test, cardiac magnetic resonance, and medication data were recorded. Childhood onset HCM was diagnosed in 29 males and 20 females. Median age at last follow-up was 18.7 years (range 2.6–51.7 years) with a median follow-up time since diagnosis of 8.5 years (range 0.2–38.0 years). Comparison of patients carrying mutations in distinct genes and comparison of genotype-negative with genotype-positive individuals, revealed no differences in functional classification, LV morphology, hypertrophy, systolic and diastolic function, fibrosis and cardiac medication. Patients with compound mutations had a significantly higher risk for major arrhythmic events than a single-mutation carrier. No association between affected genes and disease severity or progression was identified in this cohort.
format	article
author	Kathrin Pollmann Emanuel Kaltenecker Julia Schleihauf Peter Ewert Agnes Görlach Cordula M. Wolf
author_facet	Kathrin Pollmann Emanuel Kaltenecker Julia Schleihauf Peter Ewert Agnes Görlach Cordula M. Wolf
author_sort	Kathrin Pollmann
title	Compound Mutation in Cardiac Sarcomere Proteins Is Associated with Increased Risk for Major Arrhythmic Events in Pediatric Onset Hypertrophic Cardiomyopathy
title_short	Compound Mutation in Cardiac Sarcomere Proteins Is Associated with Increased Risk for Major Arrhythmic Events in Pediatric Onset Hypertrophic Cardiomyopathy
title_full	Compound Mutation in Cardiac Sarcomere Proteins Is Associated with Increased Risk for Major Arrhythmic Events in Pediatric Onset Hypertrophic Cardiomyopathy
title_fullStr	Compound Mutation in Cardiac Sarcomere Proteins Is Associated with Increased Risk for Major Arrhythmic Events in Pediatric Onset Hypertrophic Cardiomyopathy
title_full_unstemmed	Compound Mutation in Cardiac Sarcomere Proteins Is Associated with Increased Risk for Major Arrhythmic Events in Pediatric Onset Hypertrophic Cardiomyopathy
title_sort	compound mutation in cardiac sarcomere proteins is associated with increased risk for major arrhythmic events in pediatric onset hypertrophic cardiomyopathy
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/56fe6d338de242908ba8135881ab8790
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Compound Mutation in Cardiac Sarcomere Proteins Is Associated with Increased Risk for Major Arrhythmic Events in Pediatric Onset Hypertrophic Cardiomyopathy

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