Autosomal Recessive (AR) Familial Dilated Cardiomyopathy.
One gene has been described in AR FDC, as described in the first report below. One additional clinical report has been included of AR FDC.
Cardiac Troponin I. TNNI3. Cardiac troponin I is one of the three components that form the troponin complex in the thin filaments of striated muscle (the others being troponins T and C).
Title. Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy.
Authors. Murphy RT, Mogensen J, Shaw A, Kubo T, Hughes S, McKenna WJ.
Journal. Lancet 2004;363:371-2.
Department of Cardiological Sciences, St George’s Hospital Medical School, London, UK.
Citation type: phenotype/genotype (clinical and genetic data)
Study design: mutation screening of patients with IDC
Study Summary: Variations in the sequence of the cardiac troponin I (TNNI3) gene were examined in 235 patients with dilated cardiomyopathy. One mutation was identified in a family with recessive disease.
Comment: The McKenna group at St George’s Hospital again contributed to the genetic cardiomyopathy literature with this first report of recessive DCM.
Title. Evidence for autosomal recessive inheritance of infantile dilated cardiomyopathy: studies from the Eastern Province of Saudi Arabia. Authors. Seliem MA, Mansara KB, Palileo M, Ye X, Zhang Z, Benson DW.
Journal. Pediatr Res 2000;48:770-5
Specialty Pediatrics Division, Saudi Aramco-Dhahran Health Center, Dhahran 31311, Saudi Arabia.
This was a study of 55 pediatric patients all less than 10 years of age with dilated cardiomyopathy from 41 families of Arab descent. The patient cohort represented 20% of the total number of children from these families. In 19 families parents were first cousins. Complex segregation analysis suggested a recessive inheritance model.