Key result
Family history guides early diagnosis of X-linked DCM via CMR and genetic testing.
Why the study?
Familial dilated cardiomyopathy predominantly affects younger adults and may cause advanced heart failure and sudden cardiac death, requiring early detection through family screening and genetic testing.
Case Report (n=1)
Detailed family history, cardiac MRI, and genetic testing are crucial for the early diagnosis and management of familial X-linked dilated cardiomyopathy.
Supports family history-guided evaluation in suspected cardiomyopathy; leaves open validation in larger prospective cohorts.
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.
No takes yet. Share an insight, caveat, or question.
Tsalamandris et al. (2020) conducted a case report in X-linked dilated cardiomyopathy (n=1). Genetic testing and cardiac MRI was evaluated. Early diagnosis of X-linked dilated cardiomyopathy in a single patient was achieved using clinical features, cardiac MRI, and genetic testing, guided by a positive family history.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: