alexa Familial Hypertrophic Cardiomyopathy: New Insight on Mo
ISSN: 2155-9880

Journal of Clinical & Experimental Cardiology
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Research Article

Familial Hypertrophic Cardiomyopathy: New Insight on Mode of Inheritance among Egyptian Children

Sonia Ali El-Saiedi*, Mona Omar El Ruby and Arwa Ahmad El Darsh
Department of Paediatric Cardiology, Cairo University, Cairo, Egypt
Corresponding Author : Sonia Ali El-Saiedi
Department of Paediatric Cardiology
Cairo University, 5 Kasr El Aini St
Cairo, 11111, Egypt
Tel: 00201001904416
Fax: 002023619222
E-mail: [email protected]
Received May 01, 2014; Accepted July 15, 2014; Published July 25, 2014
Citation: El-Saiedi SA, El Ruby MO, El Darsh AA (2014) Familial Hypertrophic Cardiomyopathy: New Insight on Mode of Inheritance among Egyptian Children. J Clin Exp Cardiolog 5:326. doi:10.4172/2155-9880.1000326
Copyright: © 2014 El-Saiedi SA, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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Abstract

Background: No single mode of Inheritance is typical of Hypertrophic cardiomyopathy (HCM). Although autosomal dominant (AD) transmission is most common yet the existence of a recessive form of hypertrophic cardiomyopathy could neither be established nor disproved. This work aims to report the most common mode of inheritance among children with familial HCM who were recruited from the biggest tertiary referral hospital for young age cardiomyopathy in Egypt.

Methodology and Results: This study included ten cases (7 families) with Familial HCM (8 males and 2 females; their mean age was 5.07 ± 2.36 years, ranging from 0.75 to 8.25 years). Each case subjected to threegeneration pedigree construction. Echocardiography was documented in all our cases and their families. In our study AD inheritance could be suspected in 30% of cases who had an affected parent. However, 70% of our cases had an affected relative (same generation), this fact together with the fact that 90% of our cases had positive Consanguinity of their parents support the existence of autosomal recessive (AR) inheritance. Penetrance of HCM is incomplete and age related as most of the cases showed more extensive phenotype and earlier age of presentation compared to their diseased parents. Asymmetrical septal hypertrophy (ASH) is considered the most common form of HCM in children.

Conclusions and Recommendations: Autosomal recessive inheritance is the most common mode of inheritance among Egyptian patients with familial hypertrophic cardiomyopathy. Predictive genetic screening of family members of HCM patient is a must, on an attempt to decrease the risk of SCD.

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