Lily Hoffman-Andrews, Olivia G Anderson, Anjali Tiku Owens
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引用次数: 0
Abstract
Purpose of review: Cardiomyopathy caused by pathogenic variants in the desmoplakin gene has recently emerged as an entity distinct from other genetic cardiomyopathies. This review summarizes recent literature, including the first large cohort studies of this disease, that have begun to characterize its natural history and specific management challenges.
Recent findings: Desmoplakin cardiomyopathy may be characterized by episodic "hot phases", cutaneous findings, and a high risk of sudden cardiac death. Gene-specific risk factors for sudden cardiac death have begun to be elucidated.
Summary: Genetic testing in arrhythmogenic cardiomyopathy and recurrent myocarditis can identify patients with desmoplakin variants who may have a unique phenotype that requires gene-specific management. More research is needed in this population to further guide treatment, counseling, and risk stratification.
期刊介绍：
Current Opinion in Cardiology is a bimonthly publication offering a unique and wide ranging perspective on the key developments in the field. Each issue features hand-picked review articles from our team of expert editors. With fourteen disciplines published across the year – including arrhythmias, molecular genetics, HDL cholesterol and clinical trials – every issue also contains annotated reference detailing the merits of the most important papers.
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