Molecular Genetics in Sudden Cardiac Death
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (10 September 2024) | Viewed by 1485
Special Issue Editor
Special Issue Information
Dear Colleagues,
A high proportion of sudden cardiac death (SCD) in individuals under 50 years of age is caused by hereditary cardiovascular diseases. These include diseases of the heart muscle (cardiomyopathy), electrical diseases (arrhythmogenic syndromes), and hereditary diseases of the aorta and large vessels, where patients are at risk of sudden cardiac arrest or acute dissection of large vessels. Familial hyperlipidaemia (FH) may represent an important cause of SCD in males < 40 years of age or females < 50 years of age.
Identifying these cases by performing post-mortem genetic testing and family cascade screening is important for the primary prevention of life-threatening arrhythmias in relatives and requires multidisciplinary and multicentre collaboration. Involved professionals who participate in this process include forensic doctors or pathologists, acute care doctors, clinical geneticists, molecular geneticists, cardiologists, psychologists, and general practitioners. The identification of FH in a cardiac arrest victim could constitute an important part of population screening for the risk of atherosclerosis and its prevention.
Current molecular genetic methods such as next-generation sequencing may yield P/LP DNA variants in about 20% of post-mortem analysis. This yield may increase in familiar cases up to 50% according to the recent literature. Furthermore, patients with unexplained heart failure or ventricular arrhythmias should be offered a family cascade screening in the primary prevention of SCD in relatives.
Communication between individual experts and teams of individual centers is essential to ensure care for patients with an often very rare form of hereditary disease with a risk of sudden cardiac death. The cooperation with patients’ associations and dissemination of this knowledge could be lifesaving in the community.
Dr. Alice Krebsova
Guest Editor
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Keywords
- hereditary cardiovascular diseases
- sudden cardiac death (SCD)
- genetic analysis
- family cascade screening
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