Journal
ANNUAL REVIEW OF MEDICINE
Volume 61, Issue -, Pages 233-253Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev.med.052208.130419
Keywords
arrhythmia; arrhythmogenic right ventricular cardiomyopathy; sudden cardiac death; genetics; imaging
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Funding
- British Heart Foundation [FS/10/011/27881] Funding Source: Medline
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Arrhythmogenic right ventricular cardiomyopathy (ARVC) has a prevalence of at least 1 in 1000, is a leading cause of sudden cardiac death in people aged <= 35 years, and accounts for up to 10% of deaths from undiagnosed cardiac disease in the < 65 age group. The classic form of he disease has an early predilection for the right ventricle, but recognition of left-dominant and biventricular subtypes has prompted proposal of die broader term arrhythmogenic cardiomyopathy. The clinical profile of the disease bridges the gap between the cardiomyopathies and inherited arrhythmia syndromes. The early concealed phase is characterized by propensity toward ventricular tachyarrhythmia in the setting of well-preserved morphology, histology, and ventricular function. As the disease progresses, however, myocyte loss, inflammation, and fibroadiposis become evident. Up to 40% of cases harbor rare variants in genes encoding components of the desmosome, specialized intercellular junctions that confer mechanical strength to cardiac and epithelial tissue and may also participate in signaling networks. Phenotypic heterogeneity and the nonspecific nature of associated features complicate clinical diagnosis, which requires multipronged cardiovascular investigation rather than a single test. Development of a prospectively validated risk-stratification algorithm for the full disease spectrum remains the foremost clinical challenge.
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