How Marfan Syndrome Affects The Heart
February is Marfan Awareness Month, a time to raise awareness of this life-threatening genetic condition affecting one in 5,000 people. Early, accurate diagnoses are critical not only for those with Marfan syndrome but also for those with related conditions.
Marfan syndrome affects the body’s connective tissue, which holds all the body’s cells, organs and tissue together. This disorder most often affects the heart, blood vessels, bones, eyes, and joints. Some Marfan features, such as aortic enlargement (expansion of the main blood vessel that carries blood from the heart throughout the rest of the body) can be life-threatening. Fittingly, February also happens to be Heart Month, a time to raise awareness of heart disease and the conditions that lead to it, something that is happening to younger adults more often, according to the CDC.
Marfan’s Impact on the Heart
Problems with the heart and blood vessels are common with Marfan syndrome and can be quite serious. The most common of these issues affects the aorta, which is the main blood vessel that carries blood from the heart to the rest of your body. Heart valves may also experience problems.
Other common types of cardiovascular problems associated with Marfan syndrome include:
- Aortic enlargement: The aorta may become enlarged, or the walls of the aorta can bulge (called an aortic aneurysm). A significantly enlarged aorta is at risk for rupturing or tearing. In those with Marfan syndrome, the problem begins in the segment of the aorta that is located closest to the heart.
- Aortic tear or rupture: A tear or rupture that occurs between the layers of the aortic wall is referred to as an aortic dissection, resulting in severe pain in the chest, stomach, or back. The pain is often described as “sharp,” “ripping” or “tearing.” In the event a dissection is suspected, the person should seek medical attention at an ER immediately.
- Mitral valve prolapse: This is what happens when the flaps of one of the heart’s valves are “floppy,” and don’t have the ability to close tightly. Symptoms include shortness of breath, or irregular or rapid heartbeat. Some sufferers also experience leaking of the mitral valve. While a small amount of leaking isn’t considered alarming, excessive leaking could lead to the need for surgery.
- Aortic regurgitation: This is when the aortic valve fails to fully close, leaking blood back into the heart. This can happen when the aorta becomes enlarged and the valves are unable to come together fully. Symptoms include forceful heartbeats and shortness of breath, even during light activity.
Despite the fact that heart and blood vessel problems affect 9 out of every 10 people diagnosed with Marfan syndrome, there is a silver lining in all this. With a proper and early diagnosis, you will be presented with many options, including surgery, medications and a change in your physical activities.
Symptoms of Marfan
Marfan syndrome is a genetic condition, which means people who have it were born with it. However, the condition doesn’t always present itself right away. While some can have Marfan features at birth or as kids, including serious conditions like aortic enlargement, others don’t have as many features as young children but don’t develop aortic enlargement or other symptoms until they become adults. Some features of Marfan syndrome worsen over time, particularly those impacting the heart and blood vessels, joints or bones.
This is why it’s so important for people with Marfan syndrome and related conditions to seek accurate, early diagnosis and treatment. When left untreated and undiagnosed, they are at a higher risk of life-threatening complications. The earlier treatment is started, the better the outcome will be. Thus, knowing and understanding the signs of Marfan syndrome can save lives. Did you know that about half the people who have this condition don’t even know they have it? This is what doctors and researchers hope to change.
Signs of Marfan syndrome, according to the Mayo Clinic, include:
- Tall, slender build
- Disproportionately long arms, fingers, and legs
- A breastbone that protrudes outward or one that dips inward
- A high, arched palate with crowded teeth
- Heart murmurs
- An abnormally curved spine
- Flat feet
- Extreme nearsightedness
These are the easy-to-see symptoms, but there are harder-to-detect signs of Marfan syndrome that can include, in addition to heart problems, sudden lung collapse and eye problems, including dislocated lenses, detached retinas, early onset of glaucoma, and early diagnosis of cataracts. Further testing will be needed in order to conclusively detect and diagnose these features.
Contact Pathways Home Health and Hospice
Pathways Home Health and Hospice can help your loved one suffering from Marfan syndrome or any other heart condition as they navigate through the hospice experience. For more information about our compassionate services, contact us at 888-978-1306.