Hereditary cardiomyopathy and arrhythmia disorders are genetically heterogeneous meaning that within each category there are multiple disease genes, and many different pathogenic (disease-causing) variants with overlapping phenotypes. Determining the gene and pattern of inheritance for each variant in an individual is critical for accurate risk assessment of other family members.
HEREDITARY CARDIOMYOPATHIES
Hereditary cardiomyopathies are classified clinically according to their functional and morphologic features (see Figure 1 below). These diagnostic classifications can predict major complications and delineate treatment options for each group. Finer resolution of these categories is possible with the aid of molecular genetic testing.
Genetic testing for hereditary cardiomyopathies and arrhythmias