Egyptian Hypertrophic Cardiomyopathy Program

Study Overview
=================
Brief Summary
-----------------
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.

Detailed Description
-----------------
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.

Official Title
-----------------
Egyptian Hypertrophic Cardiomyopathy Program

Conditions
-----------------
Hypertrophic Cardiomyopathy

Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: All patients diagnosed with hypertrophic cardiomyopathy (index patients) who are willing and consented to participate in the registry. All family members of index patients who are willing and consented to participate in the registry. Exclusion Criteria: Refusal to consent to participate in the registry program.
Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
Accepts Healthy Volunteers

Study Plan
=================
How is the study designed?
-----------------
What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Incidence of HCM in Egypt | per 100,000 population per year | through study completion, an average of 5 year | 
| Determinants of clinical severity of HCM in Egypt | Several indicators describing the clinical symptoms and signs | 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 | 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. | 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. | through study completion, at least once at the time of inclusion, or | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
HCM, HOCM, Hypertrophic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic Cardiomyopathy with Genetic Marker, Hypertrophic Obstructive Cardiomyopathy