Familial restrictive cardiomyopathy with skeletal abnormalities

Am J Cardiol. 2003 Sep 1;92(5):636-9. doi: 10.1016/s0002-9149(03)00744-6.

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.

Publication types

  • Case Reports

MeSH terms

  • Cardiac Catheterization
  • Cardiomyopathy, Restrictive / complications
  • Cardiomyopathy, Restrictive / diagnosis*
  • Cardiomyopathy, Restrictive / genetics*
  • Child
  • Child, Preschool
  • Consanguinity
  • Diagnosis, Differential
  • Disease Progression
  • Echocardiography
  • Electrocardiography
  • Humans
  • Kyphosis / genetics
  • Magnetic Resonance Imaging
  • Male
  • Musculoskeletal Abnormalities / complications
  • Musculoskeletal Abnormalities / diagnosis*
  • Musculoskeletal Abnormalities / genetics*
  • Musculoskeletal Abnormalities / surgery
  • Myopathy, Central Core / genetics
  • Pedigree
  • Physical Examination
  • Prognosis
  • Scoliosis / genetics
  • Torticollis / genetics
  • United Arab Emirates