Hypertrophic cardiomyopathy in a neonate associated with nemaline myopathy

Arshid Mir, Matthew Lemler, Claudio Ramaciotti, Shannon Blalock, Catherine Ikemba

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Nemaline myopathy is a congenital nonprogressive skeletal muscle disorder with a characteristic rod body formation in the skeletal muscle fibers. Cardiac involvement in nemaline myopathy is rare, although both dilated and hypertrophic cardiomyopathy have been reported. We describe an infant diagnosed with hypertrophic cardiomyopathy and hypotonia on the first day of life. Muscle biopsy confirmed nemaline myopathy at 3 weeks of age. The diagnosis of nemaline myopathy precluded consideration of heart transplantation, thus shifting the focus to comfort care. This is the earliest presentation of hypertrophic cardiomyopathy reported in the literature in the setting of nemaline myopathy. The approach to determining an etiology for hypertrophic cardiomyopathy in an infant is reviewed.

Original languageEnglish (US)
Pages (from-to)E37-E41
JournalCongenital Heart Disease
Issue number4
StatePublished - Jul 2012


  • Hypertrophic Cardiomyopathy
  • Nemaline Myopathy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Surgery
  • Radiology Nuclear Medicine and imaging
  • Cardiology and Cardiovascular Medicine


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