Study reveals technology role in over-diagnosis of rare inherited heart disease

31/05/2019

A new study led by Centenary’s Professor Chris Semsarian AM and Samantha Barrett-Ross from our Molecular Cardiology Program reveals the critical need for greater understanding into diagnosis of little known inherited heart disease.

In collaboration with Wiser Healthcare, Royal Prince Alfred Hospital and the University of Sydney, the study published today in the highest ranking international cardiovascular journal – European Heart Journal, has shown that the use of advanced imaging equipment is driving a significant increase in the diagnosis of a little known inherited heart disease in adults.

In a comprehensive systematic review of 55 studies of Left Ventricular Non-Compaction (LVNC), a rare form of heart disease, the authors of the study have found that an older heart test, echocardiography (which uses ultrasound) diagnosed the condition in 1% of hospital patients and healthy adults. But using a new cardiac MRI test, 15% of adults were reported to have the condition. In some studies, it was much higher, up to 40%, even in studies of large samples of well people.

Professor Semsarian, Head of Centenary’s Molecular Cardiology Program and a leading cardiologist at Royal Prince Alfred Hospital, says, “Finding evidence of heart disease in up to 40% of well adults raises significant questions. Many 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 raises questions about the clinical utility of this particular diagnosis. It raises wider concerns too. For example, how should results from new, very sensitive tests be interpreted?”. The study highlights the impact of new technology on what appears to be massive over-diagnosis of the disease. It also provides new insights and guidance on more consistent and accurate diagnosis 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.


Radio Interview

Listen to the ABC RN Health Report interview with Centenary’s Professor Chris Semsarian AM and Samantha Barrett-Ross from our Molecular Cardiology Program.


Read the full media release.

See the published article in the European Heart Journal.

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