What are Cardiopathies?
Cardiopathy is an umbrella term for a variety of diseases affecting the heart. Common cardiopathies include coronary artery disease, heart failure, hypertensive heart disease, inflammatory heart disease, valvular heart disease.

• Marfan/TAAD

Marfan Syndrome and Thoracic Aortic Aneurisms and Dissections (TAAD)

What is Marfan/TAAD?
Marfan Syndrome is an connective tissue disorder that can affect multiple organ systems, most commonly the heart, eyes, blood vessels and skeleton. Marfan syndrome is associated with a high degree of clinically variability.  Patients may display isolated features of Marfan Syndrome or suffer severe and rapid disease in multiple organ systems. Individuals with inherited syndromes involving connective tissues such as Marfan Syndrome (MFS) and Loeys Dietz Syndrome (LDS) may be predisposed for Thoracic Aortic Aneurisms (TAAD).

The major cause of morbidity and mortality in Marfan Syndrome is aortic dissection, which results from progressive dilation of the aortic root. Thoracic aortic aneurysms tend to be asymptomatic and often are not diagnosed before an aortic dissection or rupture occurs.  Virtually all Marfan patients develop ascending aortic disease. Aortic dissection symptoms may be similar to those of other heart problems, such as a myocardial infarction. Symptoms include: sudden severe chest or back pain, loss of consciousness, shortness of breath, weakness or paralysis, pallor, and pulselessness. Rupture and dissection of an aneurysm are associated with a high degree of morbidity and mortality.

Diagnosing Marfan/TAAD
Diagnosing Marfan Syndrome relies on defined clinical criteria (Ghent nosology) of manifestations in multiple body systems. The revised Ghent nosology (2010) places greater weight on the two cardinal features of Marfan Syndrome (aortic aneurysm/dissection and ectopia lentis).  A more prominent role was also assigned to FBN1 genetic testing. Ectopia lentis (lens displacement) is present in 60% of MFS patients. Progressive aortic dilation leading to aortic aneurysm is present in 50-60% adults and 50% of children with Marfan Syndrome. FBN1 mutations are identified in up to 97% of patients meeting Ghent criteria.

Loeys Dietz Syndrome is diagnosed based on clinical findings and molecular genetic testing of TGFBR1and TGFBR, the only genes known to be associated with Loeys Dietz Syndrome. Some patients have a family history of TAAD without the syndromic features of Marfan syndrome or Loeys-Dietz syndrome, and is referred to as familial TAAD. Familial TAAD is associated with mutations in TGFBR1, TGFBR2, and ACTA2.

The FAMILION Marfan/TAAD test analyzes 4 genes associated with inherited aortic aneurysms and dissections. Approximately 90% of Marfan Syndrome patients test positive for a FBN1 mutation. Approximately 20% of familial TAAD patients test positive for a TGFBR1, TGFBR2, or ACTA2 mutation. Approximately 100% of Loeys-Dietz Syndrome patients test positive for TGFBR1 or TGFBR2 mutation.

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