Adult Echocardiography Practice Exam

What genetic disorder is commonly associated with endocardial cushion defect?

1. Marfan's syndrome

2. Acromegaly

3. Down's syndrome

4. Fitz-Hugh Curtis syndrome

The correct answer is: Marfan's syndrome

The genetic disorder that is commonly associated with endocardial cushion defects is Down's syndrome. Endocardial cushion defects are a type of congenital heart defect characterized by a failure of the endocardial cushions to fuse properly, leading to issues such as atrioventricular septal defects. These defects are often seen in patients with Down's syndrome (Trisomy 21), which results from an extra chromosome 21. The connection between Down's syndrome and congenital heart defects, including endocardial cushion defects, is well-documented in the medical literature, making it important for clinicians to consider this association when diagnosing patients with Down's syndrome. While other conditions, like Marfan's syndrome, are associated with different types of cardiovascular abnormalities, they do not have the same strong correlation with endocardial cushion defects as seen in Down's syndrome. Similarly, acromegaly is related to growth hormone excess but does not influence the development of congenital heart defects. Fitz-Hugh Curtis syndrome, characterized by the inflammation of the peritoneal surfaces surrounding the liver, has no relation to cardiac defects. Therefore, the link between Down's syndrome and endocardial cushion defects is critical in understanding genetic implications in congenital heart disease.