Abstract
A family is described in which 5 of 9 living children were found to have restrictive cardiomyopathy associated with skeletal muscle and orthopedic abnormalities. In the absence of another identifiable etiology, a genetic cause for restrictive cardiomyopathy in this family is probable. Consistent with the poor prognosis encountered for children with restrictive cardiomyopathy, 2 children in this family died, whereas a third was symptomatic by age 3 years.
MeSH terms
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Cardiac Catheterization
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Cardiomyopathy, Restrictive / complications
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Cardiomyopathy, Restrictive / diagnosis*
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Cardiomyopathy, Restrictive / genetics*
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Child
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Child, Preschool
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Consanguinity
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Diagnosis, Differential
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Disease Progression
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Echocardiography
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Electrocardiography
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Humans
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Kyphosis / genetics
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Magnetic Resonance Imaging
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Male
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Musculoskeletal Abnormalities / complications
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Musculoskeletal Abnormalities / diagnosis*
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Musculoskeletal Abnormalities / genetics*
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Musculoskeletal Abnormalities / surgery
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Myopathy, Central Core / genetics
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Pedigree
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Physical Examination
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Prognosis
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Scoliosis / genetics
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Torticollis / genetics
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United Arab Emirates