Thomas DiSalvo
Last active: 2/19/2015

Familial evaluation for diagnosis of arrhythmogenic right ventricular dysplasia.

Palmisano BT, Rottman JN, Wells QS, DiSalvo TG, Hong CC
Cardiology. 2011 119 (1): 47-53

PMID: 21822014 · PMCID: PMC3169361 · DOI:10.1159/000329834

Most sudden cardiac deaths in young athletes are caused by previously undetected inherited cardiac diseases. Here, we report a case of a young male athlete in whom a presumptive diagnosis of hypertrophic cardiomyopathy (HCM) was made following a near sudden cardiac death. Although his imaging studies initially suggested HCM, a detailed clinical and genetic evaluation of the patient and his asymptomatic father led to the diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVD) in both. DNA sequencing revealed that each individual was heterozygous for two rare variants in the PKP2 and DSC2 genes, both of which were previously shown to be associated with ARVD and to encode desmosomal proteins, i.e. the previously reported splicing variant c2489 + 1A > G in the PKP2 gene and the novel p.I109M variant in the DSC2 gene. Imaging and electrophysiologic studies further supported a diagnosis of ARVD in the father. This case highlights the importance of detailed clinical evaluation and genetic testing of family members when dealing with sudden cardiac death or unexplained cardiomyopathies in the young.

Copyright © 2011 S. Karger AG, Basel.

MeSH Terms (14)

Arrhythmogenic Right Ventricular Dysplasia Cardiomyopathy, Hypertrophic Death, Sudden, Cardiac Desmocollins Diagnosis, Differential Electrocardiography Genetic Testing Humans Male Middle Aged Pedigree Plakophilins Sports Young Adult

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