Hypertrophic cardiomyopathy screening

Hypertrophic Cardiomyopathy Microchapters
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Editors-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Genetic testing is the diagnostic study of choice to definitively diagnose hypertrophic cardiomyopathy. While definitive, these techniques can be expensive and can be difficult to access.

Screening if Genetic Testing is not Available

Absent the availability of genetic testing, clinical screening should be conducted using the history, physical exam, the electrocardiogram and the echocardiogram in adolescent patients aged 12 to 18 who are first degree relatives of patients with a confirmed diagnosis of hypertrophic cardiomyopathy. Because HCM can have a delayed age of onset, individuals over the age of 18 with an affected first degree relative should have screening every 5 years. Unless the child is engaged in extremely competitive sports or has an aggressive family history of HCM with premature death, screening is generally not recommended in children under the age of 12.

Screening of Competitive Athletes for Hypertrophic Cardiomyopathy

Screening for hypertrophic cardiomyopathy(HCM) is a controversial subject in the medical community, as HCM is the leading cause of sudden death in athletes.

Family History

The AHA/ACC guidelines recommend that a family history should be obtined in athletes to ascertain if there is a history of sudden death or if HCM is present in any family members.

Physical Examination

If the family history is positive, then a physical examination and echocardiography should be performed.

Yield of Aggressive Testing: The Italian Experience

In Italy, all competitive athletes are required to undergo pre-participation screening for the presence of HCM. This screening consists of:

• A 12-lead ECG
• A general and cardiovascular physical examination, including blood pressure measurements
• A family history

Over 3 million competitive athletes are evaluated each year, and athletes judged to be free of cardiovascular disease receive a certificate enabling them to participate in competitive athletics.

• In a study done in Italy over a 9-year period (1990-1998), 41 of the 4450 athletes screened on echocardiography showed LV hypertrophy, with an increased wall thicknesses. Only four athletes demonstrated a maximal LV wall thickness of 13 mm or more. Thus, the yield of echocardiographic screening appears to be low.

Follow-Up of Patients Who Have Been Diagnosed with Hypertrophic Cardiomyopathy

These patients are re-evaluated every 12 to 18 months.