An unfortunate teenager

• Published in: BMJ Vol. 343; no. sep29 1; p. d6170
• Main Authors: Sheikh, Zishan, Khan, Shahnawaz, Khan, Afroze
• Format: Journal Article
• Language: English
• Published: England British Medical Journal Publishing Group 29-09-2011; BMJ Publishing Group LTD
• Subjects: Aneurysms; Aortic aneurysms; Aortic Valve - surgery; Bone diseases; Cardiovascular disease; Chromosome 15; Complications; Congenital diseases; Connective tissue diseases; Ectopia; Emergency Service, Hospital; Heart; Heart Valve Prosthesis - adverse effects; Humans; Kyphosis; Male; Marfan syndrome; Marfan Syndrome - complications; Marfan Syndrome - diagnosis; Mutation; Patients; Pneumothorax; Pneumothorax - complications; Pneumothorax - diagnostic imaging; Prostheses; Prosthesis Failure - adverse effects; Radiography; Scoliosis; Scoliosis - diagnosis; Scoliosis - etiology; Teenagers; Young Adult
• ISSN: 0959-8138; 1468-5833; 1756-1833
• DOI: 10.1136/bmj.d6170

The thick round base ring of our patient's valve replacement indicates that it is mechanical. Because no cage, distal struts, or hooks are seen, it is unlikely to be a Starr-Edwards (caged ball valve) valve or a Bjork-Shiley (tilting disc) valve. Prophylactic aortic surgery is considered when the aortic root exceeds 5 cm at the sinus of Valsalva. 3 Spontaneous pneumothorax is another well known complication that occurs in 4-15% of patients, probably because of the rupture of apical blebs or bullae. 4 Scoliosis is another typical feature of this syndrome and severe scoliosis was previously part of a major criterion for skeletal system involvement. The criteria are as follows: 1) Aortic root dilation (defined as a z score of 2 or higher) and ectopia lentis 2) Aortic root dilation and a confirmed mutation in the fibrilin 1 gene (FBN1) 3) Aortic root dilation and a systemic score of 7 or higher (see National Marfan Foundation site) 8 4) Ectopia lentis and an FBN1 mutation known to cause an aortic aneurysm 5) Ectopia lentis and a family history of a first degree relative meeting the above criteria 6) Systemic score of 7 or greater and a family history of Marfan's syndrome 7) Aortic root dilation (z score of >=2 of for >=20 years old, >=3 for people under the age of 20) and a family history of Marfan's syndrome. The gene is located on the long arm of chromosome 15 and more than 1000 mutations have been identified to date. 15 In addition to Marfan's syndrome, possible isolated phenotypic sequelae of these mutations include kyphoscoliosis, ascending aortic aneurysm, and ectopia lentis-not all people with an FBN1 mutation develop Marfan's syndrome.