Rigid spine syndrome and fatal cardiomyopathy.
A 7 1/2-year-old girl had the clinical features of the rigid spine syndrome of Dubowitz. Muscle biopsy showed a predominance of type 2 fibres with neither myopathic features nor an increase in connective tissue. In addition, she had a hypertrophic cardiomyopathy with which she presented in heart failure and from which she died suddenly one month later. The association of rigid spine syndrome with cardiomyopathy has not been reported previously.
D002312:Cardiomyopathy, Hypertrophic / Q000150:complications*; D002648:Child; D005260:Female; D006801:Humans; D009135:Muscular Diseases / Q000150:complications; D013122:Spinal Diseases / Q000150:complications*; D013577:Syndrome