Egyptian HCM program aims at defining incidence, severity, phenotype, genotype and determinants of the disease in Egypt, and providing state-of-the-art treatment strategies including medical, surgical and interventional procedures which are patient- and disease-specific.
This project aims to: * Define incidence, severity, phenotype, genotype and determinants of the disease in Egypt. * Characterise the phenotype and genotype of several large cohorts with inherited muscle disease and their relatives. * Provide state-of-the-art treatment strategies including medical, surgical and interventional procedures which are patient- and disease-specific. * Study the basic mechanisms responsible for the different phenotypes at a molecular and cellular level including genotype-phenotype correlation. * Provide a special focus for studying patients who are genotype positive and phenotype negative which we believe could yield critical data regarding the evolution of the disease. * Develop sophisticated laboratory studies for single cell electrophysiology and immunocytochemistry and others focusing on the explanted human material from the surgical program. * Define the role of microvascular coronary artery in the development and progression of the disease. * Training Egyptian cardiologists, cardiac surgeons and scientists on state-of-the-art diagnosis and management of heart muscle disease including the latest developments in imaging, novel surgical techniques, coronary physiology, next generation sequencing, bioinformatics and cellular electrophysiology.
Study Type
OBSERVATIONAL
Enrollment
2,000
Aswan Heart Centre - Magdi Yacoub Heart Foundation
Aswān, Egypt
RECRUITINGIncidence of HCM in Egypt
per 100,000 population per year
Time frame: through study completion, an average of 5 year
Determinants of clinical severity of HCM in Egypt
Several indicators describing the clinical symptoms and signs
Time frame: through study completion, an average of 1 follow-up every year, and an average of 5 follow-ups throughout the study duration
Determinants of cardiac phenotype severity of HCM in Egypt
Several indicators describing the cardiac phenotype using multimodality imaging
Time frame: through study completion, an average of 1 follow-up every year, and an average of 5 follow-ups throughout the study duration
Determinant of genotype severity of HCM in Egypt
To identify and report the genetic profile of HCM in Egypt.
Time frame: through study completion, at least once at the time of inclusion
Study the basic mechanisms responsible for the HCM in Egypt
To study different phenotypes at a molecular and cellular level including genotype-phenotype correlation.
Time frame: through study completion, at least once at the time of inclusion, or
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