Recommendations for the Management of Cardiomyopathy Mutation Carriers: Evidence, Doubts, and Intentions

Area of Science:

• Cardiology
• Genetics
• Internal Medicine

Background:

• Cardiomyopathies are often hereditary, presenting with familial clustering and potentially leading to heart failure or sudden death.
• Hypertrophic cardiomyopathy (HCM) and arrhythmogenic cardiomyopathy (ACM) are well-studied hereditary forms, while dilated cardiomyopathy (DCM) also shows significant familial links.
• Left ventricular noncompaction can range from asymptomatic to severe dysfunction, highlighting the diverse clinical spectrum of cardiomyopathies.

Purpose of the Study:

• To summarize current evidence on the management of hereditary cardiomyopathies.
• To emphasize the importance of genetic testing in identifying individuals predisposed to cardiomyopathies.
• To highlight the impact of genetic variant identification on tailored therapeutic regimens.

Main Methods:

• Review of current scientific evidence regarding the management of cardiomyopathies.
• Focus on the role of genetic testing in diagnosis and treatment planning.
• Consideration of specific populations such as pregnant women and athletes.

Main Results:

• Genetic testing is vital for identifying mutations linked to cardiomyopathies, enabling early diagnosis and intervention.
• Identification of specific genetic variants can guide personalized therapeutic approaches for patients with HCM and ACM.
• Patients with DCM and a family history, as well as those with negative phenotypes, require regular follow-up due to age-dependent disease progression.

Conclusions:

• Genetic testing is essential for managing cardiomyopathies, impacting clinical practice by enabling tailored treatments.
• Regular monitoring is recommended for all patients, even those without current symptoms, due to the age-dependent nature of these diseases.
• Special considerations are necessary for managing cardiomyopathies during pregnancy and in athletes.