Marfan Syndrome and Heart Disease

Marfan Syndrome and Heart Disease

Marfan syndrome is a genetic disease which affects the “connective tissue”. This is the substance which keeps all the organs, cells and tissues together. It affects 1/5000 people.

One of the main organs affected by Marfan Syndrome is, Heart. The two well-documented abnormalities seen in this syndrome are:

  1. Aortic root dilatation (bulging or enlarged aorta) which can lead to aortic dissection
  2. Mitral Vale Prolapse (MVP) with subsequent malfunction of the valve, leading into mitral regurgitation

Another abnormality, which hasn’t been as well documented is Heart Failure, unrelated to the valvular pathology. With the advanced echocardiography techniques i.e. myocardial strain imaging (Speckle tracking) we can now diagnose heart failure at early stages. Echocardiogram (Cardiac echo or ultrasound) plays an important part in diagnosing cardiac-related abnormalities in Marfan Syndrome and usually serial studies, over time are necessary to avoid life-threatening conditions like aortic dissection or not to miss severe mitral valve regurgitation which can lead to heart failure.

Here is a case of a 29 year old man with Marfan Syndrome, diagnosed genetically with aortic root dilatation and early stage heart failure which is evident on strain echocardiogram images. As he does NOT have any significant valve disease, this type of heart failure can be attributed to genetic abnormalities, inherent to Marfan Syndrome, affecting the connective tissue.