• Congenital heart disease · Jul 2012

    Case Reports

    Hypertrophic cardiomyopathy in a neonate associated with nemaline myopathy.

    • Arshid Mir, Matthew Lemler, Claudio Ramaciotti, Shannon Blalock, and Catherine Ikemba.
    • UT Southwestern Medical Center, Department of Pediatrics, Division of Cardiology, Dallas, Tex, USA. Arshid.mir@utsouthwestern.edu
    • Congenit Heart Dis. 2012 Jul 1;7(4):E37-41.

    AbstractNemaline 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.© 2011 Wiley Periodicals, Inc.

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