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VIEWPOINT

Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy

Barry J. Maron, MD, FACC^*,*, J.G. Seidman, PhD^*, and Christine E. Seidman, MD^*,

^* Hypertrophic Cardiomyopathy Center, Minneapolis Heart Institute Foundation, Minneapolis, Minnesota
Department of Genetics, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts

Manuscript received July 17, 2003; revised manuscript received July 30, 2004, accepted August 27, 2004.

^* Reprint requests and correspondence: Dr. Barry J. Maron, Minneapolis Heart Institute Foundation, 920 E. 28th Street, Suite 60, Minneapolis, Minnesota 55407 (Email: hcm.maron{at}mhif.org).

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.

Abbreviations and Acronyms   DNA = deoxyribonucleic acid   ECG = electrocardiogram/electrocardiographic   HCM = hypertrophic cardiomyopathy   LV = left ventricle/ventricular   PRKAG2 = AMP-activated protein kinase

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