Tag Archives: Marfan syndrome

Marfan Syndrome: the Nowadays of a Century-old Disease

The review emphasizes the actuality and importance of Marfan syndrome research worldwide. The hundred years old disease has been described mainly by its skeletal, ocular and cardiovascular manifestations, and constitutional type. The underlying gene mutations have been discovered in 1991. The surgical treatment of aortic root dilatation and dissection using Dacron tube reconstruction in emergency and prophylactic surgery has been published in 1955. Nowadays international foundations, database networks subjected Marfan syndrome as a rare disease with privileged research programs. The clinical Ghent nosology of pleiotropic criteria is accepted
world-wide (1996). The research programs are focused on international proposals.

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The Preventive Surgery of Proximal Aortic Manifestations in Marfan Syndrome

Background: Marfan syndrome (MFS) is a genetic connective tissue disease with an incidence of 2–3/10000 individuals resulting in multiple organ system affection, aortic dilatation, dissection and rupture the most severe cardiovascular complications according to natural history. These consequences can be prevented by prophylactic aortic surgery.
Methods: Results are presented of patients (N=22; mean age: 26.95±9.01, min: 9; max: 42; male/female ratio=16/6) underwent elective preventive surgery over a 11 years period.
Results: Preventive operations have zero 30 days mortality and still the best results in approaching normal population life extent compared to the survival of other indication groups. Secondary vascular complications should be monitored life-long after the succesful treatment of the diseased thoracic aorta of Marfan patients due to the systemic property of the extant syndrome.
Conclusions: After identifying the condition and registering people with MFS in a national database, the regular check-ups, preventive operations bear great importance. Timing is crucial for the preventive operation, because the underlying disease (MFS) exposes the aorta to be a “ticking” bomb that can lead to serious consequences like aortic dissection or rupture with possible fatal outcome. Preventive aortic operations at MFS patients enjoy the benefitial outcomes and nature of the management compared to other acute type, emergency or urgent operations. The effective prevention lays on carrying out the prophylactic surgery together with the continuous check-up of the predisposed and operated patients by the help of a professional nationwide register for people with MFS that, if not created yet, should be established as well.

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