South Africa
WHAT IS HAPPENING IN SOUTH AFRICA?
ARVC (Arrhythmic Right Ventricular Cardiomypathy)
The CASSA ARVC Registry of South Africa is based at Groote Schuur/UCT Private Hospital and has been enrolling patients affected by ARVC. It is the first registry in Africa and the pathogeneses, clinical presentation, diagnostic evaluation and treatments are reviewed. Mutation screening for ARVC genes in patients with the condition is also being conducted at the new Cardiovascular Genetic Research Lab at the Hatter Institute in Cape Town (onder leiding van/by Prof Hanlie Moolman-Smook and Prof Bongani Mayosi
HCM (Hypertrophic Cardiomyopathy)
The search for genetic factors that modifies HCM, is bearing fruit and is done at the Magic LAB at Biomedical Health Sciences, University of Stellenbosch
LQTS (Long Q T Syndrome)
Collaboration between Stellenbosch University, Prof Paul Brink and Prof Peter Schwartz from Italy and Prof Al George from America is ongoing.
PFHB1 (Progessive Familial Heart Block)
The Magic Lab at the University of Stellenbosch has been studying Progressive Familial Heart Block for many years, and in this time we have met many affected and unaffected family members. It is their willingness to help us with our research, by giving blood and family and medical histories, that has helped make our work successful. In 2008, working with the help of two teams in Germany, we found the rogue gene that causes the disease. We can now do a blood-based diagnostic test which will identify at-risk family members who can then be advised and treated by their doctors.