Abstract 15559: Genetic Characterization of a Large Pediatric Cardiomyopathy Cohort Reveals Novel Variants in Half of Patients

IntroductionCardiomyopathy (CMP) is a heterogeneous disease group affecting heart function and may lead to heart failure. Genetic variants in more than 50 genes have been linked to CMP phenotypes. The understanding of the natural course and the underlying molecular mechanisms of pediatric CMP and he...

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Published in:Circulation (New York, N.Y.) N.Y.), 2018-11, Vol.138 (Suppl_1 Suppl 1), p.A15559-A15559
Main Authors: Kühnisch, Jirko, Herbst, Christopher, Degener, Franziska, Al-Wakeel-Marquard, Nadya, Mearini, Guilia, Carrier, Lucie, Messroghli, Daniel, Berger, Felix, Klaassen, Sabine
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Language:English
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Summary:IntroductionCardiomyopathy (CMP) is a heterogeneous disease group affecting heart function and may lead to heart failure. Genetic variants in more than 50 genes have been linked to CMP phenotypes. The understanding of the natural course and the underlying molecular mechanisms of pediatric CMP and heart failure is incomplete.HypothesisThis study aims to establish the abundance of genetic variants in known CMP disease genes in a large cohort of pediatric CMP patients.MethodsTo identify genetic defects in pediatric CMP we investigated a cohort of patients
ISSN:0009-7322
1524-4539