When a patient is diagnosed with a congenital heart disease, it is now routine that close relatives are offered an examination as well. One of the pioneers in making such offers commonplace in Denmark is Henning Bundgaard, Consultant and head of the Division for Congenital Heart Disease as well as a newly appointed Professor at the University of Copenhagen.
"More than 20 heart diseases are congenital, and many of these are not discovered until the patient is severely ill. By examining the patient's close family members, we may be able to offer preventive treatment to those who show signs of potentially developing the disease. A congenital heart disease is behind about 50% of cases of sudden, inexplicable death in young people. In such cases, it is necessary to carry out an autopsy to clarify whether the cause of death was a congenital heart disease, and whether the relatives of the deceased are also at risk and therefore should be offered an examination. This can be a very difficult process for the families, but we can see that by far the majority want to be screened," said Professor Bundgaard.
Congenital heart diseases include familial hypercholesterolaemia (inherited high cholesterol levels), cardiomyopathy (diseases of the heart muscle), abnormal heart rhythm and aortic diseases. On average, about half of the close relatives of a person suffering from a congenital heart disease have a genetic predisposition to a heart disease. As many as 50-60,000 Danes are estimated to have a congenital heart disease.
In parallel with efforts to improve examination programmes for families, Professor Bundgaard has conducted research with special focus on thickening of the heart muscle (hypertrophic cardiomyopathy). Among other things, he has helped elucidate the genetic background of the disease and document the effectiveness and safety of treatment with artificially induced blood clots into the thickened heart. He has also contributed to the development of new treatments. Professor Bundgaard's research also focuses on neuromuscular diseases, which are often accompanied by heart disease. Moreover, he has conducted a number of national registry studies which document the accumulation of congenital heart diseases in families together with SSI as well as clinical and genetic studies of sudden death in young people together with the Department of Forensic Medicine. Professor Bundgaard has been working for many years with cardiologists in Sydney on developing a new treatment for patients with heart failure by stimulating the sodium-potassium pump in the heart cells.
Professor Bundgaard is active in the Danish Society of Cardiology, where he headed work on congenital heart diseases. Through his work at the Society, Professor Bundgaard is also aiming to advocate for more autopsies in cases where a heart disease may be the cause of death and to encourage insurance companies to use current knowledge in this area to assess heart patients.