Diagnosis and screening of hypertrophic cardiomyopathy in children

Gul H. Dadlani, William G. Harmon, Elimarys Perez-Colon, Mary C. Sokoloski, Ivan Wilmot, Steven E. Lipshultz

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


Hypertrophic cardiomyopathy is the most common inherited cardiovascular disorder and the leading cause of sudden cardiac death in young people in the United States. Wide genetic heterogeneity and phenotypic expression are seen in hypertrophic cardiomyopathy and can make this disorder difficult to recognize in the general public. Population based screening for hypertrophic cardiomyopathy is aimed to allow for early detection, earlier treatment, promote complete family screening and to hopefully prevent some cases of sudden cardiac death in the community. A screening regimen consisting of a directed medical history and physical exam is currently recommended in the United States. The addition of electrocardiography is routine in some countries and can help guide the utilization of more expensive or invasive testing. Tools such as echocardiography, magnetic resonance imaging, serum biomarkers, and genetic testing are then directed to specific individuals to maximize their diagnostic and prognostic impact. Currently, no specific or widespread screening program has been uniformly adopted across the United States, as costs, benefits and the hazards of false positive diagnoses have yet to be balanced and decided. A working knowledge and appropriate suspicion for HCM remains fundamental for clinicians in order to diagnosis this important disorder.

Original languageEnglish (US)
Pages (from-to)21-27
Number of pages7
JournalProgress in Pediatric Cardiology
Issue number1
StatePublished - Jan 2011


  • Hypertrophic cardiomyopathy
  • Pediatrics
  • Screening
  • Sudden cardiac death

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Pediatrics, Perinatology, and Child Health


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