David Liang, MD, PhD, Cardiologist at Hoag Hospital, discusses the diagnosis and management of Marfan syndrome.
Marfan syndrome is a rare genetic disorder characterized by problems in the development of connective tissue. This leads to changes in the strength and performance of tissues throughout the body including blood vessels, the heart, ligaments, tendons, and skin as well as overgrowth of bones. The largest concern in Marfan syndrome is its effect on the aorta, where aneurysm is common. Marfan syndrome is caused by mutations in the FBN1 gene.
Like most rare conditions, diagnosis of Marfan syndrome can be complex. Many patients can be identified through genetic screening when family history of the disease is known. However, about 1/3 of patients with the condition have spontaneous mutation or are not picked up through family screening. The most common diagnoses occur in early childhood when an ophthalmologist notices lenses are out of position, in teenage years when pectus abnormalities and scoliosis become apparent, or later in life in the case of aortic emergencies.
Current management of Marfan syndrome include medications that may slow the progression towards aorta aneurysm and aorta replacement surgery. Advancements in both of these treatment avenues has led to an increased life expectancy in patients with the condition.
The Marfan Foundation offers resources and support for patients, families, and healthcare providers through research and community. Learn more at https://marfan.org/
To learn more about Marfan syndrome and other rare genetic conditions, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/