Overview
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.
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.
Eligibility
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.