Marfan Syndrome Awareness Month – February 2025

History of Marfan Syndrome Awareness Month

Marfan syndrome is named after Antoine Marfan. He was a French pediatrician who developed the term in 1896 after observing certain strange traits in a five-year-old female patient. Francesco Ramirez is credited for first identifying the gene linked to the disease that was first identified at the Mount Sinai Medical Center, New York City in 1991.

Marfan syndrome is distinguished by exceptionally tall and skinny individuals. They have relatively long arms, legs, fingers, and toes, and the severity of their conditions can range from mild to severe. Even within the same family, each patient has varying degrees of severity of Marfan syndrome. It is only when the aorta — the primary blood vessel that carries blood from the heart to the rest of the body — is affected, that the condition can become life-threatening.

Patients are usually treated with medicines that keep their blood pressure low to reduce the strain on their aorta. Caregivers must ensure that the patient is under regular monitoring so that medical intervention can be provided if the need arises. Most patients with Marfan syndrome eventually require preventive surgery to repair the aorta and extend their lifespan.

The signs and symptoms of Marfan syndrome are never the same between two people, including those who belong to the same family. Some patients experience only mild effects while others develop life-threatening complications. A tall and slender build, a breastbone that juts outward or dips inward, an arched palate and crowded teeth, heart murmurs, acute nearsightedness, and an abnormally curved spine are all characteristics of Marfan syndrome.