Hypertrophic Cardiomyopathy
Conditions
Keywords
HCM, HOCM, Hypertrophic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic Cardiomyopathy with Genetic Marker, Hypertrophic Obstructive Cardiomyopathy
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.
Interventions
None listed
Sponsors
Magdi Yacoub Heart Foundation
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Incidence of HCM in Egypt | through study completion, an average of 5 year | per 100,000 population per year |
| Determinants of clinical severity of HCM in Egypt | through study completion, an average of 1 follow-up every year, and an average of 5 follow-ups throughout the study duration | Several indicators describing the clinical symptoms and signs |
| Determinants of cardiac phenotype severity of HCM in Egypt | through study completion, an average of 1 follow-up every year, and an average of 5 follow-ups throughout the study duration | Several indicators describing the cardiac phenotype using multimodality imaging |
| Determinant of genotype severity of HCM in Egypt | through study completion, at least once at the time of inclusion | To identify and report the genetic profile of HCM in Egypt. |
| Study the basic mechanisms responsible for the HCM in Egypt | through study completion, at least once at the time of inclusion, or | To study different phenotypes at a molecular and cellular level including genotype-phenotype correlation. |
Countries
Egypt
Contacts
Primary ContactMagdi H Yacoub, FRS OM
Backup ContactShehab M Anwer, MBBCh., MRes
Outcome results
None listed