Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C): A Review of Molecular and Clinical Literature

作者：Murray Brittney^*

来源：Journal of Genetic Counseling, 2012, 21(4): 494-504.

DOI：10.1007/s10897-012-9497-7

• Arrhythmogenic right ventricular dysplasia/cardiomyopathy
• Arrhythmogenic cardiomyopathy
• Sudden cardiac death
• Desmosome
• Genetic counseling

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is heritable cardiomyopathy that may result in arrhythmia, heart failure, and sudden cardiac death (SCD). Approximately 50-60% of ARVD/C patient will have an identifiable pathogenic mutation in one of seven genes associated with the cardiac desmosome and other cardiac pathways. Genetic counseling remains complicated, however, because of great variable expressivity and reduced penetrance, even within members of the same family. Diagnosis of ARVD/C is made by meeting a set of major and minor diagnostic criteria, revised in 2010. Despite this, misdiagnosis is a chronic problem. Management of ARVD/C is aimed at reducing risk of sudden death/arrhythmias and preventing progression of disease. Strenuous physical activity is increasingly recognized as a significant risk factor in disease presentation and progression and is an important factor in preventative management. Anticipation of the psychosocial implications of this disease is also an important aspect of patient management. This review presents an overview of the clinical diagnosis, management, as well as disease mechanism and genetics of this rare cardiomyopathy.

• 出版日期2012-8