Arrhythmogenic or dilated or desmoplakin cardiomyopathy? A challenging case managed by our multidisciplinary cardiogenetic team

Arrhythmogenic or dilated or desmoplakin cardiomyopathy? A challenging case managed by our multidisciplinary cardiogenetic team

Blog Article

Arrhythmogenic cardiomyopathy (ACM), characterized by fibro or fibrofatty infiltration of the myocardium with a predominant arrhythmic presentation, is a genetically mediated cause of sudden cardiac death in the young and athletic individuals.We report a case of a severe form of biventricular ACM in a middle-aged Wire Harness Bundle man with a family history of cardiomyopathy-related young death.The proband was identified to harbor two novel mutations in the DES and DOLK genes and was managed comprehensively with a multidisciplinary team approach.

This report reinforces the need for a dedicated cardiovascular genetics program as well as a population-specific genetic database Generator Assembly in developing countries.