关键词: X-linked dilated cardiomyopathy cardiac magnetic imaging familial cardiomyopathy genetic counseling genetic testing genetic variant pedigree sudden cardiac death

Mesh : Adult Cardiomyopathy, Dilated / diagnostic imaging genetics Death, Sudden, Cardiac / etiology prevention & control Early Diagnosis Genetic Testing Humans Male

来  源:   DOI:10.2217/fca-2020-0030   PDF(Sci-hub)

Abstract:
Familial dilated cardiomyopathy predominantly affects younger adults and may cause advanced heart failure and sudden cardiac death. Therefore, detailed family history, family members screening, appropriate genetic testing and counselling may allow correct identification of cardiac remodeling etiology, as well as earlier disease detection. Accordingly, we present a case with an early diagnosis of an X-linked dilated cardiomyopathy guided by clinical features, cardiac MRI and genetic testing. The diagnostic workup was guided by the positive family history of cardiomyopathy and sudden cardiac deaths. Clinical implications including early management, better arrythmia risk stratification and the revealing of a potential endemic entity clustering in several male subjects of a community on Crete island are further discussed.
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