Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy

J Am Coll Cardiol. 2004 Dec 7;44(11):2125-32. doi: 10.1016/j.jacc.2004.08.052.


Screening families with hypertrophic cardiomyopathy (HCM) presents a common clinical problem to practicing cardiologists, internists, and pediatricians. The traditional recommended strategy for screening relatives in most HCM families calls for such evaluations with echocardiography (and electrocardiogram [ECG]) on a 12- to 18-month basis, usually beginning at about age 12 years. If such tests show no evidence of left ventricular hypertrophy, i.e., without one or more segments of abnormally increased wall thickness by the time full growth and maturation is achieved (at the age of about 18 to 21 years), it has been customary practice to conclude that HCM is probably absent and reassure family members accordingly that further echocardiographic testing is unnecessary. However, novel developments in the definition of the genetic causes of HCM have defined both substantial molecular diversity and heterogeneity of the disease expression including (in some relatives) incomplete phenotypic penetrance and delayed, late-onset left ventricular hypertrophy well into adulthood. These observations have unavoidably reshaped the customary practice of genetic counseling and established a new proposed paradigm for clinical family screening of HCM families. Therefore, in the absence of genetic testing, strong consideration should be given to extending diagnostic serial echocardiography past adolescence and into mid-life for those family members with a normal echocardiogram and ECG. Of note, recent developments in laboratory DNA-based diagnosis for HCM could potentially avoid the necessity for serial echocardiography in many such relatives.

Publication types

  • Review

MeSH terms

  • Age of Onset
  • Cardiomyopathy, Hypertrophic / diagnosis*
  • Cardiomyopathy, Hypertrophic / diagnostic imaging
  • Cardiomyopathy, Hypertrophic / genetics*
  • Clinical Protocols
  • DNA Mutational Analysis
  • Genetic Counseling
  • Genotype
  • Humans
  • Hypertrophy, Left Ventricular / diagnosis
  • Hypertrophy, Left Ventricular / epidemiology
  • Hypertrophy, Left Ventricular / physiopathology
  • Phenotype
  • Ultrasonography