Chiu Hsin-Hui
Department of Pediatrics, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei, Taiwan.
Tzu Chi Med J. 2021 Sep 10;34(1):44-48. doi: 10.4103/tcmj.tcmj_95_20. eCollection 2022 Jan-Mar.
Marfan syndrome (MFS), a multisystemic connective disorder, caused by fibrillin 1 gene mutations with autosomal dominant inheritance. The disease spectrum is wide and the major causes of death are related to aortic root aneurysm or dissection. The purposes of medical treatment are to reduce structural changes in the aortic wall and slow aortic root dilatation. Advance in medical researches have provided new insights into the pathogenesis of disease and opened up new horizons for treatments. Several medications such as angiotensin II type I receptor blockers, β-blockers, angiotensin-converting enzyme inhibitors, calcium channel blockers, tetracyclines, and statins have been studied for the purpose. Currently, the life expectancy of Marfan patients improves significantly and is closes to the general population with proper treatment. In this article, we review and update the medical treatments for patients with MFS.
马凡综合征（MFS）是一种多系统结缔组织疾病，由原纤维蛋白1基因突变引起，呈常染色体显性遗传。该病谱广泛，主要死亡原因与主动脉根部动脉瘤或夹层有关。医学治疗的目的是减少主动脉壁的结构变化并减缓主动脉根部扩张。医学研究的进展为该疾病的发病机制提供了新的见解，并为治疗开辟了新的视野。为此，已经对几种药物进行了研究，如血管紧张素II 1型受体阻滞剂、β受体阻滞剂、血管紧张素转换酶抑制剂、钙通道阻滞剂、四环素和他汀类药物。目前，马凡综合征患者的预期寿命显著提高，通过适当治疗已接近普通人群。在本文中，我们对马凡综合征患者的医学治疗进行综述和更新。
