Symptom 2: Heart Complications: A Life-Threatening Concern for Marfan Syndrome Patients
Of the numerous challenges Marfan syndrome throws, cardiovascular complications can be particularly critical, with the aorta—the main artery originating from the heart—often at the epicenter. This large vessel, the aorta, is responsible for transporting oxygen-rich blood from the heart to the rest of the body.
In individuals with Marfan syndrome, the aorta can become dilated, meaning it widens and weakens. This is due to the defective fibrillin-1 protein that fails to provide adequate structural support to the aortic wall. This dilation often happens where the aorta exits the heart, a region known as the aortic root.
Left unchecked, the dilated aortic root could lead to aortic dissection, a serious condition where the layers of the aortic wall split apart. Aortic dissection is typically marked by severe chest or back pain and can be life-threatening. It’s as if the main pipeline carrying life-sustaining blood is at constant risk of rupture.
This also has cascading effects on the heart’s functioning. The dilated aorta may lead to aortic regurgitation, a condition where blood leaks back into the left ventricle due to a faulty aortic valve. The heart then works harder to pump this additional blood, which can eventually result in heart failure.
The intricate interplay of genetics, protein function, and cardiovascular health underscores the complex nature of Marfan syndrome. The heart complications serve as a testament to how a single flawed protein can wreak havoc on the body’s most critical organ system, resulting in a complex cascade of cardiovascular problems. (2)
