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本文报道一家族8例马凡氏综合征患者,并就遗传学及诊治等问题进行讨论。典型病例患者(Ⅱ_1)女,38岁,为其家族马凡氏综合征先证者,因胸痛1天入院。患者于20多年前赛跑时曾有晕厥史,7年前在妊娠期间出现心慌气短至今,劳累时尤甚。入院前日因过劳突感胸骨后疼痛,伴胸闷心悸,含化硝酸甘油无效故来院。患者自幼高度近视,且身体发育快,但体质较弱。家族中其父
This article reports a family of 8 patients with Marfan syndrome, and discusses the issues of genetics and diagnosis and treatment. A typical case of patients (Ⅱ_1) female, 38 years old, who is their family Marfan syndrome proband, admitted to hospital for 1 day because of chest pain. Patients had a history of syncope when racing for more than 20 years ago, and palpitation shortness of breath during pregnancy seven years ago, especially when tired. Admitted to hospital the day before because of overwork suddenly felt chest pain, chest tightness and heart palpitations, nitrification with nitroglycerin to the hospital. Myopia patients with high myopia, and physical development fast, but weak constitution. The father of the family