Marfan Syndrome: Causes, Clinical Features, and Management

Marfan Syndrome: Causes, Clinical Features, and Management

Question. Describe briefly Marfan’s syndrome.

Answer. It is a genetic metabolic disorder of connective tissue.

Etiology

Disease is caused by a defect in manufacture of fibrillin molecules in the extracellular matrix.

Marfan Syndrome: Causes, Clinical Features, and Management

Clinical Features of Marfan’s syndrome.

1. Patient is tall and slender.
2. The inheritance is autosomal dominant.
3. Extremities especially fingers and toes are long and thin.
4. Muscles are Markedly *hypotonic and joints are *hyper extensible.
5. The main cause of *morbidity and *mortality is related to CVS. There is aortic aneurysm (localized abnormal dilatation of blood vessel usually an artery due to congenital defect or weakness in wall of vessel) and other valve abnormalities mainly mitral incompetence.
6. Death is due to rupture of aneurysm.
7. There is presence of flt feet, *stooped shoulders and dislocation of optic lens.

Management Marfan’s syndrome.

1. Beta­blockers are given to prevent *aneurysmal rupture.
2. Treatment of complication: Aneurysm* can be operatively treated by using dacron mesh or graft.
3. Valvular defects are treated accordingly by either repair or replacement.

Causes and Risk Factors of Marfan Syndrome

Question. Enumerate causes of continuous murmurs.

Answer A continuous murmur is one which begins in systole and continues through the second heart sound into part or whole of diastole.

Causes of continuous murmurs are as follows:

1. Patent ductus arteriosus
2. Aortopulmonary window
3. Ruptured sinus of valsalva into the right side of the heart
4. Surgically produced shunts in TOP—Blalock­Taussig shunt
5. Co­arctation of aorta
6. Coronary/pulmonary/systemic A-V fitula
7. Aortic stenosis and aortic regurgitation
8. Ventricular septal defect with aortic regurgitation
9. Venous hum
10. Mammary souff
11. Anomalous origin of left coronary artery from pulmonary artery