Screening

Screening should be performed in two distinct populations:

  • Competitive athletes

  • Family members of affected patients.

Screening of competitive athletes

  • Screening of competitive athletes for hypertrophic cardiomyopathy (HCM) remains a controversial topic.[56][57][58]​ The argument has been made that routine screening should be performed in all competitive athletes, as HCM is the most common cause of sudden death in this population.[56]

  • While only a minority of athletes will have significant repolarization abnormalities suggestive of a congenital cardiomyopathy or inherited channelopathy, preparticipation screening with ECG has been routinely performed on all competitive athletes in Italy since 1982. Based on this experience, it has been suggested that the low incidence of sports-related sudden death in Italy has occurred as a result of such screening.[58]

  • While ECG increases the sensitivity of detecting underlying heart disease above physical examination alone, a normal ECG may be present in up to 25% of asymptomatic patients with HCM.[59]

  • Although in Europe the use of ECG screening in young athletes has been associated with a decline in the rate of sudden cardiac death (SCD) in this population, this approach has not been endorsed in the US.[59] 

  • Internationally agreed criteria have been published to help nonexperts interpret the ECG in athletes.[60] This consensus statement defines the ECG findings that warrant further evaluation for disorders that predispose to SCD.

  • The significance of T-wave inversions in asymptomatic athletes is largely dependent on age, gender, ethnicity, and duration and intensity of athletic training. It is important to quantify SCD risk in the context of other relevant findings, such as family history of SCD and other findings of underlying structural disease. It is generally accepted that anterior T-wave inversions are a normal variant in black people and adolescents. In contrast, T-wave inversions seen in the lateral leads in any patient are usually abnormal, and suggestive of underlying cardiac disease.[61]

Screening of family members

  • Routine screening of all first-degree family members should be performed by echocardiography. As the hypertrophy may not develop until a later age, a negative echocardiogram importantly does not rule out the diagnosis.[15][45]

  • Guidelines from the American Heart Association/American College of Cardiology recommend that initial screening in children and adolescents from genotype-positive families and families with early-onset disease should happen at the time HCM is diagnosed in a first-degree family member.[2] For all other children and adolescents, initial screening is recommended any time after HCM is diagnosed in a family member, but no later than puberty. Initial screening for adults is also recommended at the time HCM is diagnosed in a first-degree family member.[2]

  • Clinical screening with history, physical exam, ECG, and echocardiogram should be repeated every 12 to 24 months throughout adolescence.

  • Due to the possibility of delayed adult-onset left ventricular hypertrophy, family members older than 18 years should continue to undergo clinical screening every 3 to 5 years.[2][62]

  • Echocardiograms should not be performed more frequently than 12 months as there is unlikely to have been interval change within that time period.

  • Genetic analysis is an important screening tool for extended family members when a genetic mutation has been identified within affected family members. Genetic screening of relatives can then be used to definitively rule out the diagnosis in unaffected individuals, thereby avoiding the need for lifelong serial echocardiographic screening.[15][46]

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