Researchers at the Centenary Institute in collaboration with Wiser Healthcare, Royal Prince Alfred Hospital, and the University of Sydney have carried out a study. The results of the research have revealed that the use of advanced imaging equipment is driving a significant increase in the diagnosis of a little known inherited heart disease in adults.
One rare form of heart disease is Left Ventricular Non-Compaction (LVNC), where the walls of the left ventricle (the bottom chamber of the left side of the heart) do not form appropriately with channels forming in the heart muscle leading to a "spongy appearance." It is possible to diagnose LVNC accurately in babies and young children, and is quite severe in this population group, often requiring a heart transplant to save the child. In adults, approximately two-thirds of people with LVNC diagnosed using traditional medical tests will develop heart failure, making early and accurate diagnosis vital.
This latest study, however, has highlighted that in adults, the rate and accuracy of diagnosis are heavily influenced by the introduction of new testing methodologies.
The authors of the new study made a comprehensive systematic review of 55 studies of the disease and published their results in the highest ranking international cardiovascular journal, European Heart Journal. They discovered that an older heart test, echocardiography (which uses ultrasound) diagnosed the condition in one percent of hospital patients and healthy adults. But using a new cardiac MRI test, 15 percent of adults were reported to have the disease. In some studies, it was much higher, up to 40 percent, even in studies of large samples of healthy people.
A leading cardiologist at Royal Prince Alfred Hospital and Head of Centenary's Molecular Cardiology Program, Professor Chris Semsarian AM, said that finding evidence of heart disease in up to 40 percent of healthy adults raises significant questions. Most of the studies were done on well people with no symptoms or signs of heart disease, yet the cardiac MRI showed these abnormal results at alarming levels. This evidence raises questions about the clinical of this particular diagnosis. It fosters broader concerns too. For instance, how should results from new, susceptible tests be interpreted?
The research highlighted the impact of new technology on what appears to be massive over-diagnosis of the disease. Also, it offers new insights and guidance on the more consistent and accurate diagnostic of LVNC in adults to enable a reduction in the number of healthy people undergoing the stress of misdiagnosis, and cost and trauma of unnecessary treatment.
