“Are Bicuspid Aortic Valves Passed From Maternal or Paternal Relatives?” asks Sue
By Adam Pick on March 14, 2019
A very interesting question from Sue just came in about the genetics of heart valve disease including bicuspid aortic valves. Sue writes to me, “Hi Adam, Since there appears to be hereditary factors involved in aortic valve disease… Does it come from maternal or paternal relatives? (or in my case, probably both?) Thanks!”
To answer Sue’s question, I reached out Dr. Thomas Gleason, a leading heart valve surgeon at UPMC Health in Pittsburgh, Pennsylvania. Doctor Gleason is an aortic valve specialist who is also widely known for his research and clinical focus on aortic aneurysms.
Dr. Thomas Gleason Says…
In response to Sue, Dr. Gleason first addressed the risks associated with heart valve disease and treatment options:
Both congenital and acquired forms of valvular heart disease can result in significant morbidity and mortality. Advanced cases of valvular heart disease require surgical intervention, and often can be addressed by either via transcatheter or open surgical techniques depending on the problem with the valve and the clinical circumstances.
Dr. Thomas Gleason
Dr. Gleason then addressed the genetics of aortic valve disease including bicuspid aortic valves:
Bicuspid aortic valve is the most common congenital heart anomaly, affecting between 1-2% of the population. Over 35% of affected patients will develop severe disease associated with the bicuspid aortic valve including aortic stenosis, aortic insufficiency and the development of ascending aortic aneurysms.
Dr. Gleason also highlighted other cardiac disorders with a genetic link:
Other genetically-triggered connective tissue disorders including the Marfan syndrome, Loeys-Dietz syndrome and Ehlers-Danlos syndrome also give rise to significant valvular heart disease and/or thoracic aortic disease, including problems like mitral valve prolapse, aortic valve regurgitation, and aortic aneurysms and/or dissections.
Dr. Gleason next addressed how scientific research is advancing our understanding of valve disease origins and how to potentially treat such disorders in the future:
With recent advances in the Human Genome Project, coupled with the increased understanding of cardiac valve development and congenital heart disease, there is increasing evidence to suggest that adult-onset valvular heart disease can be traced back to embryogenesis. A few genetic mutations have been linked to congenital valvulopathies, and new genetic technologies and biomedical research will continue to reveal contributing factors in the development of valvular heart disease and help foster the development of novel surgical techniques and better treatment options.
Lastly, specific to Sue’s question about whether-or-not aortic valve disease is passed from maternal or paternal relatives, Dr. Gleason noted:
It is currently unknown whether bicuspid aortic valves are passed through maternal or paternal relatives.
For me, this was really neat to learn how medical teams are researching are uncovering the origins of genetic cardiac disorders (e.g. bicuspid aortic valve) all the way at the cellular level. Many thanks to Sue for her question. And, a special thanks to Dr. Gleason for sharing his research and clinical experiences with our community!!!
Keep on tickin!