Inherited Heart Muscle Disease Registry(active)

• This project is aimed at characterizing in detail the phenotype and genotype of several large cohorts in hypertrophic cardiomyopathy, dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy patients and their relatives in different populations.

• The resulting data will act as a resonance for several studies..

• The ultimate aim is to optimize therapy,conductclinicaltrials and importantly investigate the basic molecular mechanisms responsible.


Inherited heart muscle disease, a historically neglected group of diseases, comprises three types:

1. Hypertrophic Cardiomyopathy (HCM):
• The disease affects 1 in 500 individuals with an estimated number of 160,000 affected individuals in the Egyptian community.

• This national program includes 523 persons who have been entered in the database with detailed genotyping.

• 300 have been genotyped; 200 of which are index patients and 100 family members, yielding novel results, which are being written up.

•  The program includes tight clinical monitoring with state-of-the-art management including surgical treatment (relief of left ventricular outflow tract obstruction) in 67 patients (26 in 2011) using techniques developed and published by our group.

• This program is being strengthened by the purchase of a Robot in the genetic lab in Alexandria and upgrading the equipment to third generation high.

• AHC initiated trainings and combined research programs with the Royal Brompton/Hammersmith research group.

2. Dilated Cardiomyopathy:
• In 2012, it was realized that a significant number of up to 70% have a genetic basis.

• The importance of the disease stems from the recognition of the plight of those patients will provide great scientific value of studying the genetics and other aspects of the disease.

3. Bicuspid Aortic Valve Registry (Active and Recruiting Patients)
• A dedicated principal investigator has been appointed and the data generated will be jointly analyzed with the department of imaging and biophysics at Imperial College.

• The genetic studies will take place at the laboratory in Alexandria.

• More than 50 patients have been recruited.

4. Pulmonary Hypertension Registry (Active and Recruiting Patients)
• A specific research unit has been established and equipped in Cairo.

•  22 patients have already been recruited by and a comprehensive protocol for their management has been evolved.

• AHC has recently been chosen to join a multicentre trial with several reputable centers around.

• A study on the prevalence and severity of bilharzial pulmonary hypertension in Sharkeyah has been completed and published this year.

5. Randomized Autograftvesrus Mechanical versus StEntless Study (RAMSES) (Study Design Phase)
• This is a 3-arm randomized study to compare the medium and long-term outcome of various options for aortic valve replacement (Ross operation vs. mechanical prostheses vs. stentless aortic roots).

• The results of this study will be extremely valuable in determining the best strategy for aortic valve replacement especially in young adults.

6. Invasive Coronary Physiology Laboratory(Active)
• This serves as a platform for investigating the effect of various diseases and treatment modalities on coronary blood flow, coronary flow reserve, and microvascular function.

• We are currently studying the effect of extended septal myectomy on baseline and hyperemic global and regional coronary blood flow, coronary flow reserve (CFR) and index of microcirculatory resistance (IMR) in patients with hypertrophic obstructive cardiomyopathy.

• Myocardial specimens obtained during surgery will also be analyzed to determine baseline histological features.

• The results of this study could possibly help explain some of the mechanisms by which tailored surgical relief of LVOT obstruction improves symptoms, functional capacity, and prognosis in patients with hypertrophic obstructive cardiomyopathy.

• We also plan to study the pattern of coronary blood flow and endothelial function in patients before and after aortic valve surgery using different surgical techniques and prosthesis.

7. Cardiopulmonary Exercise Lab (Staff Recruitment Phase)
• This lab provides a safe non-invasive method of quantitatively measuring cardiac performance in a wide range of cardiac conditions.

• Accurate assessment of cardiac performance will also provide valuable information on the comparative benefit of different therapeutic options in specific cardiac conditions.

8. Advanced Coronary Imaging and Novel Stent Design Study
• Advanced intracoronary imaging including intravascular ultrasound (IVUS) and more recently optical coherence tomography (OCT) has enabled high-resolution intra-luminal imaging of coronary arteries in the cath-lab.

•  Modalities are now being utilized in select high-risk interventions and are proving to be valuable tools in guiding management strategies in this setting.

• The study also provided accurate data on the composition of vessel wall and true size of the vessel continue to be of significant value in specific circumstances.

• It resulted in the development of a number of dedicated bifurcation stents over the last few years to face this problem.

• AHC is in the process of conducting a study, in collaboration with Imperial College London, to evaluate the anatomical profile of a new dedicated bifurcation stent.

9. Mechanical Circulatory Support/Left Ventricular Assist Device Program (equipment purchasing phase).
• AHC aims to establish the first mechanical circulatory support/LVAD program in Egypt.

• This program will serve as a platform for better understanding of myocardial regeneration and various biological pathways by which the heart muscle recovers from various insults.

10. Cardiovascular Genetics Laboratory (active)
• The lab was established in 2006 by MYF on an Alexandria-based premises provided by the Bibliotheca Alexandrina.

• The unit currently serves as referral genetics centre to all the MYF’s clinical units and AHC.

• The lab represents the most advanced molecular genetics centre in Egypt hosting state-of-the-art equipment including:


 An automated DNA sequencer - Applied Biosystems.

 Two single block Thermal Cyclers - BioRad C1000.

 DHPLC WAVE System for mutation primary screening including recent hardware and software upgrades.

 Among various basic equipment.


• We have recently upgraded the lab via installing a sophisticated robotic system, which will allow for full automation of all pre-sequencing procedures.


• We plan to enhance the capability of the lab by purchasing a 3rd generation of high throughput sequencer capable of whole exome and whole genome sequencing in the near future.

11. AHC Biobank(Planning Phase)
• Detailed phonotype data

• Tissue and sample identification and storage facilities

• DNA extraction lab

12. Molecular Biology Laboratory(Planning Phase)
13. Microscopy Laboratory(Planning Phase)
• Conventional microscopy with remote analysis facilities.

• Immunocytochemistry lab.

• Confocal microscopy lab.

14. Heart Muscle Function Laboratory(Planning Phase)
• Cellular electrophysiology lab.

15. Myocardial Regeneration Program (pharmacological, gene therapy and novel stem cell research) (Planning Phase)
16. Heart Valves Tissue Engineering Program
• The program aims to characterize the phenotypic and functional features of stem cells suitable for use in heart valve tissue engineering with the ultimate objective of developing biologically conditioned intelligent scaffolds that resist calcification.

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