PDF(Pubmed)
Abstract：
Marfan syndrome (MFS) is a well-described genetic connective tissue disease that heightens the risk of cardiovascular, ocular, pulmonary, and other emergencies in affected individuals. The wide range of phenotypic presentations, spanning from mild, chronic, and asymptomatic to acute and life-threatening, can pose challenges in diagnosing MFS when disease manifestations are subtle. We report a pathogenetic variant of MFS characterized by subtle systemic findings that was identified only after the patient presented with visual changes and pain associated with angle closure, despite a medical history indicating other pathologies linked to this condition. This case underscores the importance of recognizing the varied and sometimes subtle clinical features of MFS. Vigilance in identifying the constellation of findings associated with MFS can enhance its diagnosis and treatment outcomes by enabling appropriate and timely referrals for prophylactic evaluation and care to address potentially life-threatening complications.
摘要：
马凡氏综合征（MFS）是一种描述良好的遗传性结缔组织疾病，增加心血管疾病的风险，眼,肺,以及受影响个人的其他紧急情况。广泛的表型表现，从温和跨越，慢性，无症状至急性和危及生命，当疾病表现微妙时，可能会给诊断MFS带来挑战。我们报告了一种MFS的致病变异，其特征是只有在患者出现与闭角相关的视觉变化和疼痛后才发现的微妙的系统性发现。尽管有病史表明与这种情况有关的其他病理。该病例强调了认识到MFS的各种且有时是微妙的临床特征的重要性。警惕确定与MFS相关的发现群可以通过适当和及时的转诊进行预防性评估和护理来解决潜在的危及生命的并发症，从而提高其诊断和治疗结果。
