Anaesthesia for Marfan's Syndrome : syndromic vignettes in anaesthesia

Case report A 35 year-old female with Marfan's Syndrome, presented for medical termination of pregnancy at 8 weeks' gestation. She had no family history of Marfan's. Despite having undergone dental work for teeth overcrowding, her first medical presentation was with severe aortic regurgitation and cardiac failure in 2003. At that time she underwent urgent aortic valve and aortic root replacement. She has been followed up bi-annually, relatively uneventfully, at cardiac clinic. She is well controlled on furosemide and a beta-blocker, Carvedilol. She had no symptoms of congestive cardiac failure (CCF) and was graded as NYHA class 2. She is also taking warfarin and haematinics. Although she is in regular contact with the health care system, she claims to have little knowledge regarding her diagnosis in terms of prognosis, natural history and lifestyle issues. The patient informed cardiologists of her plans to fall pregnant, but appeared not to have been advised against this. Only on referral to cardiology, once already pregnant, was she sternly advised to terminate the pregnancy in order to avoid potentially catastrophic cardiovascular consequences associated with pregnancy in patients with Marfan's syndrome. On examination she is a tall, thin lady with a "wingspan" greater than her height. She has long spidery fingers, dental overcrowding and a high-arched palate. Skeletal anomalies included kyphoscoliosis, pectus carinatum, hypermobility of her joints and pes planus. She had a sternotomy scar, regular pulse, mechanical second heart sound, a soft systolic murmur but no evidence of cardiac failure. Her chest was clear. She had no striae or hernias. ECG showed no significant abnormalities. Warfarin was changed to heparin prior to the termination. Heparin was stopped 6 hours prior to surgery. No premedication was ordered. She was carefully positioned to reduce the risk of joint trauma or dislocation. She received an intravenous induction with propofol / fentanyl and maintenance with isoflurane, while breathing spontaneously via a face mask. The procedure was uneventful. While she remained in hospital for re-warfarinizing, she complained of a visual field disturbance. This was diagnosed as retinal detachment. She subsequently underwent uneventful surgical correction of the retinal detachment prior to discharge.