This paper concludes that epigenetics (things which influence expression of DNA like behavioral and environmental factors) greatly influence the expression of HCM genetic mutations.
The researchers studied 11 pairs of twins with HCM. 9 of the twin pairs had known HCM sarcomere mutations while 2 of the pairs had HCM of unknown cause. The siblings were followed for a time frame of between 5 to 14 years.
Researchers compared left ventricular wall thickness, left atrial size and left ventricular ejection fraction. Differences were found in the left ventricular wall thickness of all 11 pairs of twins, while left atrial size was similar in 3 of the 9 twin pairs who carried HCM mutations. Left ventricular ejection fraction was different in 4 of 7 twin pairs.
The researchers theorize that similarities in left atrial size may be due to impaired ventricular relaxation directly tied to sarcomere dysfunction. In contrast, environmental factors yield more influence over ventricular function.
HCM epigenetics is a field ripe for research. As HCM patients, we hope that it will yield actionable data in the near future.
Of the 98 gene positive children in this study, those with a MYH7 mutation or those with multiple mutations were more likely to need a myectomy or an ICD or to experience a sudden cardiac arrest or a heart transplant when compared to children with other HCM causative mutations.
The article also suggests that current screening protocols which recommend clinical and genetic screening for HCM beginning at age 12 may be insufficient.
During the Olympics we all gather around our television sets to watch the best athletes in the world compete against each other and we wonder how it is that they can humanly perform at such a high level?
This feature story about Stanford HCM Clinic’s Dr. Euan Ashley provides us with an interesting overview of the research Dr. Ashley is doing on high performance elite athletes with the hope that their genes may provide clues that will one day help to help treat those of us with HCM and other genetic heart conditions.