Evidence for autosomal recessive inheritance of infantile dilated cardiomyopathy: studies from the Eastern Province of Saudi Arabia. Pediatr Res 2000 Dec;48(6):770-5
Date
12/05/2000Pubmed ID
11102545DOI
10.1203/00006450-200012000-00012Scopus ID
2-s2.0-0033667623 (requires institutional sign-in at Scopus site) 16 CitationsAbstract
Familial dilated cardiomyopathy is being increasingly recognized, but affected individuals <10 y are rarely identified. We describe the natural history of dilated cardiomyopathy and evaluate the mode of inheritance among infants of Arab descent from the Eastern Province of Saudi Arabia. We evaluated 55 consecutive cases of dilated cardiomyopathy in patients <10 y of age seen during a 5-y interval. Echocardiography was the primary diagnostic modality. The 55 cases represented 20% of the offspring of 41 families of Arab descent. In 19 families (46%), parents were first cousins; there was no obvious consanguinity in 22 families (54%). Age at presentation was <30 mo (95%) (range, 1 to 100 mo); males (38%) and females (62%) were affected. Patients died (25 patients, 46%), improved (15 patients, 27%), or recovered (15 patients, 27%). The left ventricular shortening fraction at diagnosis ranged from 5 to 28% and did not differ in those who died, improved, or recovered. Complex segregation analysis of the family data using the mixed model of inheritance showed that a model of recessive inheritance best fits the data. Recessively inherited dilated cardiomyopathy has been infrequently reported, perhaps because it may be difficult to recognize in other patient groups in which consanguineous marriage is uncommon and the number of children per family is small. In the setting of consanguineous marriage, homozygosity mapping should lead to identification of the gene(s) causing dilated cardiomyopathy in the families we studied.
Author List
Seliem MA, Mansara KB, Palileo M, Ye X, Zhang Z, Benson DWMESH terms used to index this publication - Major topics in bold
Age of OnsetArabs
Cardiomyopathy, Dilated
Carnitine
Child
Child, Preschool
Comorbidity
Consanguinity
Coxsackievirus Infections
Enterovirus B, Human
Female
Genes, Recessive
Genotype
Humans
Infant
Influenza, Human
Likelihood Functions
Male
Models, Genetic
Pedigree
Phenotype
Saudi Arabia
Software
