An in-depth, multigenerational family history enhances the diagnosis, genetic testing strategy, and sudden cardiac death risk assessment for families affected by inherited hypertrophic cardiomyopathy.
A comprehensive, multigenerational family history is a dynamic and essential tool for diagnosing and managing inherited cardiac hypertrophy such as hypertrophic cardiomyopathy.
L eft-ventricular hypertrophy is a common finding in clini- cal practice and the end result of a number of different disease processes. As such, distinguishing hypertrophy attributable to athletic training or chronic hypertension from more rare and potentially life-threatening genetic conditions, including hypertrophic cardiomyopathy (HCM), is of utmost clinical importance. This is true not only for the individual patient but also for the patient's family members, who may be at risk when the cause is a heritable disease. We review how family history can be used in identifying inherited cardiac hypertrophy and in guiding ongoing management of the patient and the rest of the family. An in-depth, multigenerational family history has the potential to enhance every aspect of care, from establishing a diagnosis to devising a genetic testing strategy, interpreting genetic test results, and providing ongoing risk assessment for sudden cardiac death (SCD). We review that family history is not simply a static account of preexisting deaths and diagnoses, but a dynamic ongoing process incorporating new and valuable insights from family medical records, clinical cardiology evaluations, genetic testing, and visual analysis of the patient's family tree. Such insights enable comprehensive clinical care for families affected by HCM.
Dunn et al. (Fri,) conducted a review in Inherited cardiac hypertrophy / Hypertrophic cardiomyopathy. Family history assessment was evaluated. An in-depth, multigenerational family history enhances the diagnosis, genetic testing strategy, and sudden cardiac death risk assessment for families affected by inherited hypertrophic cardiomyopathy.