Marfan syndrome: a study of a Nigerian family and review of current cardiovascular management.

BACKGROUND

Marfan's syndrome is a connective tissue disorder inherited as an autosomal dominant disorder. It causes a myriad of distinct clinical problems, of which the musculoskeletal, cardiac, and ocular system problems predominate. Nearly 50 percent of patients have to undergo aortic surgery in their lifetime resulting in reconstruction or replacement of the aortic root or total of this vessel's parts.

OBJECTIVE

To describe a Nigerian family with multiple cases of Marfan syndrome and discuss current cardiovascular management of the syndrome.

MATERIALS: Detailed history, clinical and laboratory investigations including ophthalmologic assessment and echocardiography were carried out on all members of a nuclear family of a child who reported with complaints of poor eye sight later diagnosed to have Marfan syndrome.

RESULTS

Diagnosis of Marfan syndrome was made in three members of the nuclear family--a father and his two children following eye examination of one of the children. Afollow up cardiovascular assessment revealed that the father required aortic surgery while the two children also had aortic root dilatation.

CONCLUSION

This report underlines the importance of a detailed history, physical examination and family study in patient assessment. Current cardiovascular management in Marfan syndrome involves a blocker therapy and an annual cardiovascular evaluation involving clinical history, examination and echocardiography. Prophylactic aortic surgery should be considered when aortic diameter at the sinus valsalva exceeds 50 mm.