TY - JOUR
T1 - Arrhythmogenic right ventricular cardiomyopathy
T2 - Progress toward personalized management
AU - James, Cynthia A.
AU - Calkins, Hugh
N1 - Publisher Copyright:
© 2019 by Annual Reviews.
PY - 2019/1/27
Y1 - 2019/1/27
N2 - Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease characterized by fibrofatty replacement of the ventricular myocardium, a high risk of ventricular arrhythmias, and progressive ventricular dysfunction. The clinical course is highly variable, and optimal approaches to management remain undefined. ARVC is associated with pathogenic variants in genes encoding the cardiac desmosome. Genetic testing facilitates identification of at-risk family members, but penetrance of ARVC in pathogenic variant carriers is difficult to predict. Participation in endurance exercise is a known key risk factor. However, there remains significant uncertainty about which family member will develop disease and how best to approach longitudinal screening. Our clinically focused review describes how new insights gained from natural history studies, improved understanding of pathogenic mechanisms, and appreciation of genetic and environmental modifiers have set the stage for developing personalized approaches to managing both ARVC patients and their at-risk family members.
AB - Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease characterized by fibrofatty replacement of the ventricular myocardium, a high risk of ventricular arrhythmias, and progressive ventricular dysfunction. The clinical course is highly variable, and optimal approaches to management remain undefined. ARVC is associated with pathogenic variants in genes encoding the cardiac desmosome. Genetic testing facilitates identification of at-risk family members, but penetrance of ARVC in pathogenic variant carriers is difficult to predict. Participation in endurance exercise is a known key risk factor. However, there remains significant uncertainty about which family member will develop disease and how best to approach longitudinal screening. Our clinically focused review describes how new insights gained from natural history studies, improved understanding of pathogenic mechanisms, and appreciation of genetic and environmental modifiers have set the stage for developing personalized approaches to managing both ARVC patients and their at-risk family members.
KW - arrhythmogenic right ventricular cardiomyopathy
KW - desmosome
KW - exercise
KW - genetic testing
KW - implantable cardioverter defibrillator
KW - ventricular tachycardia
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U2 - 10.1146/annurev-med-041217-010932
DO - 10.1146/annurev-med-041217-010932
M3 - Review article
C2 - 30355260
AN - SCOPUS:85060639906
SN - 0066-4219
VL - 70
SP - 1
EP - 18
JO - Annual review of medicine
JF - Annual review of medicine
ER -