Marfan syndrome is a connective tissue disorder characterized by abnormalities in the fibrillin-1 gene, leading to cardiovascular manifestations including aortic root and annular dilatation. Aortic annular dilatation predisposes to aortic valve insufficiency (regurgitation) and aortic aneurysm formation.
Coarctation of the aorta is more commonly associated with Turner syndrome. Parachute mitral valve and cleft mitral valve are congenital abnormalities linked to other syndromes or defects but not typical in Marfan syndrome.
This association is described in the "Textbook of Clinical Echocardiography, 6e", Chapter on Genetic Syndromes and Cardiovascular Manifestations【20:120-125†Textbook of Clinical Echocardiography】.QUESTION NO: 91
Which condition causes both tricuspid stenosis and tricuspid regurgitation?
A. Pulmonary hypertension
B. Cor pulmonale
C. Carcinoid heart disease
D. Amyloid heart disease
Answer: C
Comprehensive and Detailed Explanation From Exact Extract:
Carcinoid heart disease results from the deposition of fibrous plaques on the endocardium of right-sided heart valves, predominantly affecting the tricuspid and pulmonary valves. This leads to both tricuspid stenosis (valve leaflet thickening and immobility causing obstruction) and tricuspid regurgitation (incomplete coaptation due to leaflet retraction).
Pulmonary hypertension and cor pulmonale cause primarily functional tricuspid regurgitation without stenosis. Amyloid heart disease can cause restrictive cardiomyopathy but rarely causes combined tricuspid valve stenosis and regurgitation.
These pathological changes are detailed in the "Textbook of Clinical Echocardiography, 6e", Chapter on Carcinoid Heart Disease and Right Heart Valve Disease【20:335-340†Textbook of Clinical Echocardiography】.
