Cardiovascular Features of Connective Tissue Diseases Connective tissue disorders are a diverse group of inherited conditions that can affect the cardiovascular system, particularly the aorta, systemic arteries, cardiac valves, and myocardium. Some of these disorders are associated with a significant risk of aortic aneurysm, dissection, arterial rupture, or premature vascular disease. Recognizing the characteristic cardiovascular phenotype of each disorder is important for early diagnosis, appropriate imaging surveillance, family screening, and prevention of life-threatening complications. Marfan Syndrome Marfan syndrome is an autosomal dominant connective tissue disorder caused primarily by pathogenic variants in the FBN1 gene, which encodes fibrillin-1. The most important cardiovascular manifestation is aortic root dilatation , particularly involving the sinuses of Valsalva. Progressive aortic enlargement can result in aortic aneurysm, aortic regurgitation, and aortic dissect...
Dr. Usman's Cardiology Notes
Cardiology Notes: Clinical Cases including ECG, Echocardiography, Cath, and MOCK Exams to sharpen your cardiology data interpretation skills. Healthcare is stressful!!! Learning cardiology shouldn't be !!!