Genetics of congenital arrhythmia syndromes: the challenge of variant interpretation.

Abstract excerpt

Congenital arrhythmia syndromes are rare genetic disorders that can cause a high risk of sudden cardiac death. Expert panels have affirmed 15 genes that are linked to congenital arrhythmias. These genes mostly encode cardiac ion channel proteins or associated regulatory proteins that generate the cardiac action potential. Common genetic variation modulates the risk of rare variants and partially explains the...

Topics

• Humans
• Syndrome
• Genetic Predisposition to Disease
• Arrhythmias, Cardiac
• Death, Sudden, Cardiac
• Genetic Testing
• Phenotype