Pediatric Hypertrophic Cardiomyopathy Differential Diagnoses

Updated: Apr 11, 2017
  • Author: Christina Y Miyake, MD; Chief Editor: Syamasundar Rao Patnana, MD  more...
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Diagnostic Considerations

Children with hypertrophic cardiomyopathy (HCM) may not be symptomatic. Careful evaluation of a heart murmur may reveal HCM.

As noted previously, early diagnosis of HCM is of prime importance if sudden cardiac death is to be prevented by prescription of an appropriate level of safe activity, medications, surgery, or an implantable cardioverter defibrillator. Screening of first-degree relatives with physical examination, electrocardiography (ECG), and echocardiography is useful to identify additional family members with HCM before the onset of significant symptoms or sudden death. [14]

Syncope identifies children with HCM who are at significantly increased risk of sudden death and warrants an urgent evaluation. Like syncope, presyncope also warrants a directed evaluation to rule out malignant arrhythmias. A thorough investigation is warranted to rule out potential malignant etiology of presyncopal symptoms.

To differentiate HCM from other cardiac conditions with left ventricular hypertrophy, the following may be helpful [15] :

  • Family history of HCM
  • Sarcomeric protein gene mutations
  • Left ventricular cavity dimension
  • Pattern of left ventricular hypertrophy
  • Diastolic function
  • Short deconditioning periods

Differential Diagnoses