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العنوان
Mutational analysis of hypertrophic cardiomyopathy and left ventricular noncompaction in Egyptian pediatric patients :
الناشر
Nora Hassan Radwan Mahmoud ,
المؤلف
Nora Hassan Radwan Mahmoud
هيئة الاعداد
باحث / Nora Hassan Radwan Mahmoud
مشرف / Dina Farouk Elgayar
مشرف / Abeer Mohamed Mohy
مشرف / Sonia Ali Elsaiedi
تاريخ النشر
2018
عدد الصفحات
170 P. :
اللغة
الإنجليزية
الدرجة
الدكتوراه
التخصص
علم الأمراض والطب الشرعي
تاريخ الإجازة
19/5/2019
مكان الإجازة
جامعة القاهرة - كلية الطب - Clinical and Chemical Pathology
الفهرس
Only 14 pages are availabe for public view

from 188

from 188

Abstract

Background: Cardiomyopathies are the most common myocardial diseases resulting in heart failure and sudden death in the young. These diseases are genetically diverse with a huge number of identified mutations, providing a high incentive to identify and sequence disease related genes in affected individuals to identify pathogenic variants. Recent developments in sequencing technologies are greatly impacting the pace of gene discovery and clinical diagnosis. Aim of the work: The current study aimed at identifying the mutation spectrum of cardiomyopathy related genes among Egyptian pediatric patients with primary cardiomyopathy. Subjects and methods: Targeted enrichment next generation sequencing of 174 genes associated with 17 different inherited cardiac conditions was done for 40 Egyptian pediatric patients diagnosed with primary cardiomyopathy (24 patients presenting with hypertrophic cardiomyopathy and 16 patients presenting with left ventricular noncompaction)