Key result
De novo Desmin and MYH7 mutations link to pediatric ARVC presenting with RHF and biventricular dysfunction.
Why the study?
Arrhythmogenic right ventricular cardiomyopathy is uncommon in the paediatric population and most commonly presents with arrhythmia rather than heart failure.
Highlights a rare presentation of arrhythmogenic right ventricular cardiomyopathy as right heart failure in a pediatric patient with de novo Desmin and MYH7 mutations.
Atypical heart failure presentation in pediatric ARVC warrants clinical consideration; extends mutational spectrum but leaves open broader phenotypic and pathogenic implications.
Arrhythmogenic right ventricular cardiomyopathy is an uncommon diagnosis in the paediatric population, most commonly presenting with arrhythmia. We report an 11-year-old male presenting with right heart failure due to biventricular systolic dysfunction found to have arrhythmogenic right ventricular cardiomyopathy with de novo Desmin and MYH7 mutations.
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Truong et al. (2022) studied this question. Arrhythmogenic right ventricular cardiomyopathy associated with de novo Desmin and MYH7 mutations presented as right heart failure and biventricular systolic dysfunction in an 11-year-old male.
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