Compound Mutation in Cardiac Sarcomere Proteins Is Associated with Increased Risk for Major Arrhythmic Events in Pediatric Onset Hypertrophic Cardiomyopathy
| Autor: | Peter Ewert, Cordula M Wolf, Julia Schleihauf, Agnes Görlach, Kathrin Pollmann, Emanuel Kaltenecker |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
medicine.disease_cause pediatric onset hypertrophic cardiomyopathy Sarcomere Article Sudden cardiac death Muscle hypertrophy Fibrosis Internal medicine major arrhythmic events medicine cardiovascular diseases genotype–phenotype association Genetic testing Mutation medicine.diagnostic_test business.industry Hypertrophic cardiomyopathy General Medicine medicine.disease Cohort Cardiology cardiovascular system Medicine sudden cardiac death risk stratification business |
| Zdroj: | Journal of Clinical Medicine Volume 10 Issue 22 Journal of Clinical Medicine, Vol 10, Iss 5256, p 5256 (2021) |
| ISSN: | 2077-0383 |
| DOI: | 10.3390/jcm10225256 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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