In the past, Marfan syndrome usually flew under the medical radar and was often diagnosed on the operating table after a life-threatening emergency.
Increased awareness and greater understanding about Marfan syndrome has improved the odds for people who have this genetic defect that affects the connective tissue in the body.
Still, more work needs to be done, according to a recent study conducted by the Marfan Foundation.
Hyper-flexibility and long skinny limbs
Marfan syndrome is a condition that affects the connective tissue of the body and causes damage to the heart, aorta, and other parts of the body. This complex condition requires a specialized and experienced approach to care. Patients share some physical traits, including being hyper-flexible and having long, skinny limbs and fingers.
One particular hidden structural abnormality can be life threatening, though. People with Marfan syndrome are at high risk for a torn or ruptured aorta (the large artery that sends blood out from your heart to your body). When a tear or rupture occurs, the person needs immediate, emergency repair surgery to prevent death.
Awareness can improve outcomes
Surgeon Lars Svensson, MD, PhD, Director of the Aorta Center and Director of the Marfan Syndrome and Connective Tissue Disorder Clinic at Cleveland Clinic, says that improved awareness is improving outcomes. “While undiagnosed Marfan syndrome was commonly seen in patients 10 to 20 years ago presenting with aortic dissection emergencies, fortunately, due to the Marfan Foundation, more genetic testing, and other campaigns to educate physicians, this has become less common.”
Dangerous condition under-diagnosed
The syndrome remains an under-diagnosed condition, according to the Marfan Foundation study, which revealed that for every five people with Marfan syndrome, one of them underwent a surgical procedure before ever having been identified as having the dangerous condition.
Twenty percent of those patients operated on pre-diagnosis underwent emergency surgery to repair an aortic dissection or tear in the aorta.
Genetic testing among tests needed for diagnosis
While diagnosis times are improving, challenges still remain. Part of the difficulty is that diagnosis typically requires testing across multiple subspecialties, including medical genetic testing.
The Marfan Foundation study reveals that nearly 20 percent of patients said they waited more than seven months before receiving a confirmed diagnosis.
Dr. Svensson stresses that improvements in technology and screening are narrowing the diagnosis gap. “The increasing use of echocardiography and CT scans in tall people or people with unusual habitus is picking up aortic pathology more often.”
Survival rate increases with preventative surgery
In confronting Marfan, the aim is to prevent emergencies from occurring, says Dr. Svensson, “since the mortality risk for emergency surgery is anywhere between 5 percent and 25 percent depending on where the emergency surgery is done.”
In contrast, preventive, repair surgery is an elective, non-emergency procedure and it has much better outcomes. “In our hands, mortality for prophylactic aortic root reimplantation surgery (for over 400 of these operations completed) is less than 1 percent. The 10-year survival rate is better than 95 percent for most patients and freedom from another heart operation is also about 95 percent. In other words, the risk of another heart operation is only about 5 percent in the first 10 years after surgery and probably about 10 percent after 20 years,” emphasizes Dr. Svensson.
For Marfan syndrome, safety equates with early detection and intervention.