Desmoplakin-induced arrhythmogenic left ventricle cardiomyopathy. A case report
DOI:
https://doi.org/10.63600/d706ve33Keywords:
Arrhythmogenic cardiomyopathy, Left ventricle, Desmoplakin gene, Sudden cardiac death, Primary preventionAbstract
Arrrhythmogenic left ventricular cardiomyopathy is a rare atypical variant of arrhythmogenic cardiomyopathies charaterized by fibrofatty infiltration of the myocardium, leading to ventricular dysfunction and a risk of sudden cardiac death. Recent studies have identified this cardiomyopathy as being associated with variants pathogenic in the desmoplakin gene. Currently, there is inssufficient evidence to support accurate risk stratification and informed clinical decision-making for these patients. We report a case asymptomatic arrhythmogenic left ventricular cardiomyopathy. The evaluation revelead morpho-functional abnormalities and genetic testing for desmoplakin gene variant. We analize the current evidence on risk stratification and primary prevention of sudden cardiac death
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