Medical Professional Publications

Case Study: Hypertrophic Cardiomyopathy and Genetic Testing

(From the January 2015 Issue of PediatricsOnline)

Hypertrophic cardiomyopathy, an inherited heart condition affecting fewer than one in every 100,000 children, can cause syncope, arrhythmias, chest pain and sudden death. In the Cardiomyopathy Program in The Heart Center at Nationwide Children’s Hospital, patients with HCM undergo risk stratification, including potential genetic testing, magnetic resonance imaging, exercise stress testing and family screening for history of cardiomyopathy and sudden death. If a causative genetic variant is identified, genetic testing is also available for the HCM patients’ family members who have the highest risk of developing the disease.

While genetic testing typically does not alter treatment of a patient with cardiomyopathy, genetic screening can identify other immediate family members who are at risk but have no signs, symptoms or abnormalities on echocardiogram or electrocardiogram. Identifying cardiomyopathy in the families of patients diagnosed with the condition can allow physicians detect problems before they grow serious.

Case Images: Echocardiographic images taken at age 6 years before myectomy during systole (a) and diastole (b), and after myectomy during systole (c) and diastole (d). The septum was massively thickened and almost completely obstructed the outflow tract during systole prior to myectomy. The septum size is reduced (but not normal) post-myectomy, allowing unobstructed blood flow.  LA – left atrium; LV – left ventricle; OT – outflow tract;  RV – right ventricle; SPT – ventricular septum.

This case study profiles a patient with early-onset HCM due to pathogenic changes in two different genes, one inherited from the father and one from the mother, who presented to Nationwide Children’s cardiologists at 8 months of age with a heart murmur and severe obstruction of the left ventricular outflow tract.

Download the Case Study

myChildren’s mobile app

iPhone and Android.

Download Today! »

Nationwide Children's Hospital
700 Children's Drive Columbus, Ohio 43205 614.722.2000