Key result
The study of rare cardiocutaneous syndromes has transformed the contemporary understanding of arrhythmogenic cardiomyopathy, including its clinical course, genetics, and cellular mechanisms.
The recognition of rare cardiocutaneous syndromes has significantly advanced the understanding of arrhythmogenic cardiomyopathy and its role in sudden cardiac death.
Insights from rare syndromes refine ACM risk stratification; extends genetic models but leaves open therapeutic trials.
The classic cardiocutaneous syndromes of Naxos and Carvajal are rare. The myocardial disorder integral to their pathology - arrhythmogenic cardiomyopathy - is arguably not uncommon, with a prevalence of up to 1 in 1,000 despite almost certain under-recognition. Yet the study of cardiocutaneous syndromes has been integral to evolution of the contemporary perspective of arrhythmogenic cardiomyopathy - its clinical course, disease spectrum, genetics, and cellular and molecular mechanisms. Here we discuss how recognition of the association of hair and skin abnormalities with underlying heart disease transformed our conception of a little-understood but important cause of sudden cardiac death.
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Sen‐Chowdhry et al. (2014) conducted a review in Arrhythmogenic cardiomyopathy and cardiocutaneous syndromes. Study of cardiocutaneous syndromes was evaluated. The study of rare cardiocutaneous syndromes has transformed the contemporary understanding of arrhythmogenic cardiomyopathy, including its clinical course, genetics, and cellular mechanisms.
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