Gielerak G, Wierzbicki P
Kliniki Chorób Wewnetrznych i Kardiologii Centralnego Szpitala Klinicznego Wojskowej Akademii Medycznej w Warszawie.
Pol Merkur Lekarski. 1998 Aug;5(26):98-100.
The Marfan syndrome is an autosomal dominant inherited disorder of connective tissue with pleiotropic manifestation involving mainly the cardiovascular, ocular, skeletal and pulmonary systems. Aortic root dilatation and heart valve lesions are particularly common and presage a reduced life expectancy. Over the ensuring 20 years, however, treatment to prevent or correct the cardiovascular complications of the syndrome has changed dramatically--life expectancy for patients with the Marfan syndrome has increased > 25%. Reasons for this dramatic increase may include (1) an overall improvement in population life expectancy, (2) benefits arising from cardiovascular surgery, and (3) greater proportion of milder cases due to increased frequency of diagnosis. Cardiovascular surgery, both prophylactic and emergent, has become accepted treatment for aortic aneurysm, and aortic dissection. In addition, beta-adrenergic receptor antagonists have gained wide acceptance as potential agents for delaying aortic expansion and progression to rupture or dissection. In conclusion, medical therapy is also associated with an increase in probable survival.
马凡综合征是一种常染色体显性遗传的结缔组织疾病，具有多效性表现，主要累及心血管、眼、骨骼和肺部系统。主动脉根部扩张和心脏瓣膜病变尤为常见，预示着预期寿命缩短。然而，在接下来的20年里，预防或纠正该综合征心血管并发症的治疗发生了巨大变化——马凡综合征患者的预期寿命增加了25%以上。这种显著增加的原因可能包括：（1）总体人群预期寿命的提高；（2）心血管手术带来的益处；（3）由于诊断频率增加，病情较轻的病例比例更大。预防性和急诊性心血管手术已成为治疗主动脉瘤和主动脉夹层的公认方法。此外，β-肾上腺素能受体拮抗剂作为延缓主动脉扩张以及预防破裂或夹层形成的潜在药物已被广泛接受。总之，药物治疗也与提高生存可能性相关。
