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A clinical and molecular genetic study on Egyptian children with hypertrophic cardiomyopathy

Thesis

Last updated: 06 Feb 2023

Subjects

-

Tags

Pediatrics

Advisors

El-Saeidi, Sunya A. , El-Roubi, Muna O. , Ammar, Rasha I.

Authors

El-Darsh, Arwa Ahmad

Accessioned

2017-07-12 06:42:02

Available

2017-07-12 06:42:02

type

M.Sc. Thesis

Abstract

Hypertrophic cardiomyopathy (HCM) is a primary genetic disease of the myocardium characterized by hypertrophy of left ventricle and interventricular septum and inherited in an autosomal dominant fashion. It is one of the leading causes of sudden cardiac death especially in the young. This study included 10 patients with isolated HCM and 10 normal children as a control group. The aim of the work is to determine whether exon 13 in MYH7 gene is a site for mutations among Egyptian children in the studied sample. Detailed History, clinical examination, echocardiography were done to all patients. Molecular screening for mutations in exons 13 & 14 of MYH7 gene was done to the patients' & control groups. Screening results revealed; normal amino acids sequence in exon 13 among studied sample, normal polymorphism detected among both patients' & control groups. Conclusion: Mutations in exons 13 & 14 of MYH7 may not be the cause of HCM among studied sample.

Issued

1 Jan 2010

DOI

http://dx.doi.org/10.21473/iknito-space/37455

Details

Type

Thesis

Created At

28 Jan 2023