[Genetic myocardiopathies: present and future]

Area of Science:

• Cardiovascular Medicine
• Human Genetics
• Molecular Biology

Context:

• Heart failure presents a substantial global health challenge with high mortality and morbidity rates.
• Emerging evidence highlights the critical role of genetic background in heart failure pathogenesis.
• This influence is observed across various forms, including those with and without systolic dysfunction, and familial versus non-familial cases.

Purpose:

• To explore the genetic underpinnings of heart failure.
• To identify specific genes and loci associated with cardiomyopathies.
• To investigate susceptibility and modifier genes in non-familial heart failure.

Summary:

• Genetic factors are increasingly recognized as key contributors to the onset and progression of heart failure.
• Research has identified numerous genes linked to familial and monogenic forms of dilated and hypertrophic cardiomyopathies.
• Studies are also examining genetic influences in non-familial heart failure, focusing on susceptibility and modifier genes.

Impact:

• Unraveling genetic factors promises deeper insights into heart failure mechanisms.
• Enables identification of at-risk individuals for proactive medical management.
• Facilitates the advancement of pharmacogenetics for tailored therapeutic interventions.