Screening for dilated cardiomyopathy in immediate family members: to whom, how, when (and where)

Area of Science:

• Cardiology
• Genetics
• Molecular Biology

Background:

• Dilated cardiomyopathy (DCM) is characterized by left ventricular dilation and impaired systolic function.
• Etiologies include infections, toxins, immune responses, and genetic factors, with increasing identification of familial DCM.
• Advances in cardiac imaging and genetic understanding are improving early detection and therapeutic development.

Purpose of the Study:

• To highlight the importance of family screening in the diagnosis and management of dilated cardiomyopathy.
• To emphasize the role of genetic factors and emerging therapies in DCM.

Main Methods:

• Review of current understanding of DCM etiologies and diagnostic tools.
• Emphasis on genetic screening and cardiac magnetic resonance imaging (CMR) for early detection.
• Discussion of evolving therapeutic strategies, including targeted drugs and gene therapies.

Main Results:

• Genetic factors are increasingly recognized as a cause of DCM, leading to more frequent identification of familial cases.
• Cardiac MRI enables early detection of morpho-functional changes in initial DCM stages and in genetic variant carriers.
• Understanding genetic and molecular mechanisms facilitates the development of novel therapeutic approaches.

Conclusions:

• Family screening is a vital tool for early diagnosis, treatment, and prognostic stratification of DCM.
• Dedicated cardiomyopathy centers are essential for comprehensive family screening and patient follow-up.
• Continued research into genetic and molecular mechanisms will drive future therapeutic innovations for DCM.