title: Marfan syndrome: a study of a Nigerian family and review of current cardiovascular management.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors: Cardiology Unit, Department of Paediatrics, Lagos University Teaching Hospital, Idi-Araba, Lagos, Nigeria. ekaekure@yahoo.com
authors: E N
authors: EN
authors: Ekure
authors: A O
authors: AO
authors: Onakoya
authors: D A
authors: DA
authors: Oke
mesh_terms: D000293:Adolescent; D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use; D000328:Adult; D000959:Antihypertensive Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008382:Marfan Syndrome / Q000000981:diagnostic imaging* / Q000188:drug therapy / Q000235:genetics; D008487:Medical History Taking; D009549:Nigeria; D011433:Propranolol / Q000627:therapeutic use; D014463:Ultrasonography; D055815:Young Adult
chemical_list: D000319:Adrenergic beta-Antagonists; D000959:Antihypertensive Agents; D011433:Propranolol