Parental consanguinity and cardiomyopathies in Mashhad: A crosssectional Study

Background: Cardiomyopathies are heart muscle disorders that affect ventricular systolic and/or diastolic function. Pediatric cardiomyopathies are rare diseases with an annual incidence of 1.1–1.5 per 100,000 people. Previous studies reported first-cousin marriages to be one of the significant risk factors for congenital heart diseases.This study is performed to determine the incidence of cardiomyopathies in relation to the degree of consanguinity of the parents. Methods: In this cross sectional survey, medical data from 291 cardiomyopathy cases who were identified through to the pediatric cardiology clinic of Imam Reza Hospital in Mashhad/Iran from 2001 until 2015 were collected and analyzed. Families were interviewed for information on consanguinity and demographic data. Results: Out of 291 patients diagnosed with cardiomyopathy the most common type of cardiomyopathy was dilated cardiomyopathy with 167 subjects (60%) compared with hypertrophic cardiomyopathy with 102 subjects (37%) and restrictive cardiomyopathy with 9 patients (3%). 50.2% (146 subjects) were the offspring of consanguineous marriages including first and second cousins and 105 subjects (36.1%) were offsprings of unrelated parents. The highest rate of cardiomyopathies was among first cousins (40.9 %) which showed a significant relationship. Data indicated that first-cousin consanguinity was significantly associated with Hypertrophic cardiomyopathies. Conclusion: Consanguinity may exacerbate underlying genetic risk factors forcardiomyopathies, particularly in the offspring of first cousins.

کلیدواژه ها:

Consanguinity ، Dilated Cardiomyopathy ، Hypertrophic Cardiomyopathy ، Restrictive cardiomyopathy