Familial restrictive cardiomyopathy with skeletal abnormalities.
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.
Schwartz
Marcy L
ML
Department of Cardiology, Children's Hospital, Boston, Massachusetts 02115, USA. marcy.schwartz@cardio.chboston.org
Colan
Steven D
SD
D006328:Cardiac Catheterization; D002313:Cardiomyopathy, Restrictive / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003937:Diagnosis, Differential; D018450:Disease Progression; D004452:Echocardiography; D004562:Electrocardiography; D006801:Humans; D007738:Kyphosis / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D020512:Myopathy, Central Core / Q000235:genetics; D010375:Pedigree; D010808:Physical Examination; D011379:Prognosis; D012600:Scoliosis / Q000235:genetics; D014103:Torticollis / Q000235:genetics; D014479:United Arab Emirates