People who are gene positive for hypertrophic cardiomyopathy

5th July 2016

Adults who have gene mutations associated with hypertrophic cardiomyopathy but no heart muscle thickening can go on to develop the disease later, say researchers.

The team, led by Dr Don McTaggart from the Launceston General Hospital in Australia, followed fifteen patients with mutations on the MYBPC3 and MYH7 genes for nearly two decades. Seven were children when first diagnosed as being gene positive.

Fourteen were followed up with clinical examinations, ECGs and echos to see if their hearts changed over time. Measurements included changes in wall thickness and heart function.

Ten patients were followed up for a total of 18 years, two for 17 years, one for 11 years and one for eight years.

One adult at the time of initial investigation developed hypertrophic cardiomyopathy (HCM) features seen on echo and MRI (magnetic resonance imaging), one an increase in wall thickness diagnostic for HCM only on MRI, and another to be borderline for HCM on MRI.

The researchers concluded people who are gene positive for hypertrophic cardiomyopathy but have no heart muscle thickening can develop the disease later and need periodic supervision throughout their lives.

The team said they undertook the study because there was very little data on how and if the disease would develop in these patients.