Are Marfan syndrome and marfanoid patients distinguishable on long-term follow-up?

BACKGROUND

It is unclear whether late outcome differs for Marfan syndrome and marfanoid patients. Thus, we compared characteristics of Marfan versus marfanoid patients and their survival and requirement for reoperation.

METHODS

From 1978 to October 2003, 162 patients with a presumptive diagnosis of Marfan syndrome underwent operation. We recategorized them as confirmed Marfan (n = 122), marfanoid (n = 23), Ehlers-Danlos syndrome (n = 5), or other (n = 12). Patients categorized as marfanoid failed to meet the major criteria of Marfan syndrome. We compared characteristics of Marfan and marfanoid groups and assessed long-term survival and need for reoperation.

RESULTS

Marfan and marfanoid patients had similar demographics (women, 33% versus 39%; age, 39 +/- 13 versus 41 +/- 12 years; height, 186 +/- 12 cm versus 184 +/- 9.6 cm), valve pathophysiology (aortic regurgitation, 66% versus 58%; mitral regurgitation, 58% versus 62%), and aortic pathology (dilated, 40% versus 39%; dissected, 17% versus 13%). Overall hospital survival was 99.3% (144/145), and 10-year survival was similar at 82% in the Marfan and 100% in marfanoid groups (p = 0.13). Patients with aortic dissection (p = 0.001) and mitral valve replacement (p = 0.003) were at higher risk of death. Reoperation was more frequent after separate aortic valve-ascending aorta graft operations (p = 0.04), and among taller patients (p = 0.005). Of 24 Marfan patients with David root reimplantations, none has required reoperation.

CONCLUSIONS

Marfan and marfanoid patients have similar physical characteristics and postoperative survival, although reoperation was more frequent in Marfan patients. Surgery before occurrence of aortic dissection or mitral valve repair should reduce the risk of reoperation, but taller patients, irrespective of Marfan or gender, are more likely to require reoperation.