Comprehensive Cardiomyopathy Gene Testing Blood

The cardiomyopathies are a group of disorders characterized by disease of the heart muscle. Cardiomyopathy can be caused by inherited, genetic factors, or by nongenetic (acquired) causes such as infection or trauma. When the presence or severity of the cardiomyopathy observed in a patient cannot be explained by acquired causes, genetic testing for the inherited forms of cardiomyopathy may be considered. Overall, the cardiomyopathies are some of the most common genetic disorders. The inherited forms of cardiomyopathy include hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC or AC), and left ventricular noncompaction (LVNC). DCM is established by the presence of left ventricular enlargement and systolic dysfunction. DCM may present with heart failure with symptoms of congestion, arrhythmias or conduction system disease, or thromboembolic disease (stroke). The incidence of DCM is likely higher than originally reported due to subclinical phenotypes and underdiagnosis, with recent estimates suggesting that DCM affects approximately 1 in every 250 people. After exclusion of nongenetic causes such as ischemic injury, DCM is traditionally referred to as "idiopathic" dilated cardiomyopathy. Approximately 20% to 50% of individuals with idiopathic DCM may have an identifiable genetic cause for their disease. Families with 2 or more affected individuals are diagnosed with familial dilated cardiomyopathy. Cardiomyopathy may also be caused by an underlying systemic disease such as a mitochondrial disorder, a muscular dystrophy, or a metabolic storage disorder. In these cases, cardiomyopathy may be the first feature to come to attention clinically. The hereditary forms of cardiomyopathy are most frequently associated with an autosomal dominant form of inheritance; however, X-linked and autosomal recessive forms of disease are also present. In some cases, compound heterozygous or homozygous variants may be present in genes typically associated with autosomal dominant inheritance, often leading to a more severe phenotype. The inherited cardiomyopathies display both allelic and locus heterogeneity, whereby a single gene may cause different forms of cardiomyopathy (allelic heterogeneity) and variants in different genes can cause the same form of cardiomyopathy (locus heterogeneity).This comprehensive cardiomyopathy panel includes sequence analysis of 55 genes and may be considered for individuals with HCM, DCM, ARVC, or LVNC, whom have had uninformative test results from a more targeted, disease-specific test. This test may also be helpful when the clinical diagnosis is not clear, or when there is more than 1 form of cardiomyopathy in the family history. It is important to note that the number of variants of uncertain significance detected by this panel may be higher than for the disease-specific panels, making clinical correlation more difficult.