Why Consider Genetic Testing in HCM

The role of genetic testing in HCM

The discovery of the gene defects responsible for HCM is a major step toward understanding in precise terms the basic cause of HCM.  In addition, laboratory DNA-diagnosis from a blood test is now available for the first time commercially.  This availability may prove to be particularly useful in identifying HCM in young children and adolescents, or in clinical situations where the HCM diagnosis is ambiguous — such as athletes in whom it is difficult to distinguish HCM from the effects of chronic exercise and training on the heart (i.e., “athlete’s heart”), or the consequences of hypertension.

This type of genetic testing has also been utilized selectively by families with a known HCM mutation to determine if their children or other relatives have the same genetic marker.  This knowledge will allow for careful follow-up for those with a known genetic mutation or freedom from the need for annual cardiac evaluation in those relatives without a mutation.  Certainly, the knowledge of a “mutation” may be highly emotional, debilitating, and in some ways even worse than actual diagnosis for a particular patient.  Genetic counseling is highly recommended for family members undergoing genetic screening to prepare them for the results and help interpret the findings.



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