{"title":"Redefining Aging: A Tale of Hutchinson-Gilford Progeria Syndrome.","authors":"Shivam Mirg, Sangeeta Pednekar","doi":"10.59556/japi.72.0702","DOIUrl":null,"url":null,"abstract":"<p><p>The Hutchinson-Gilford syndrome, or progeria, is a rare genetic syndrome characterized by dwarfism, premature aging,and premature affection of the circulatory system (cardiovascular and cerebrovascular). Diagnosis is based on typical clinical and radiological features and confirmed by demonstration of mutation in the Lamin A gene. Our patient presented with heart failure with reduced ejection fraction secondary to degenerative valvular heart disease. He developed in-hospital bilateral anterior circulation watershed infarct and eventually succumbed to the illness. The present case is reported due to its rarity. It also intends to describe the pattern of cerebrovascular arteriopathy.</p>","PeriodicalId":22693,"journal":{"name":"The Journal of the Association of Physicians of India","volume":"72 10","pages":"91-92"},"PeriodicalIF":0.0000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Journal of the Association of Physicians of India","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.59556/japi.72.0702","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
The Hutchinson-Gilford syndrome, or progeria, is a rare genetic syndrome characterized by dwarfism, premature aging,and premature affection of the circulatory system (cardiovascular and cerebrovascular). Diagnosis is based on typical clinical and radiological features and confirmed by demonstration of mutation in the Lamin A gene. Our patient presented with heart failure with reduced ejection fraction secondary to degenerative valvular heart disease. He developed in-hospital bilateral anterior circulation watershed infarct and eventually succumbed to the illness. The present case is reported due to its rarity. It also intends to describe the pattern of cerebrovascular arteriopathy.
哈钦森-吉尔福德综合症或早衰症是一种罕见的遗传综合症,以侏儒症、早衰和循环系统(心血管和脑血管)早衰为特征。诊断基于典型的临床和放射学特征,并通过 Lamin A 基因的突变得到证实。我们的患者因退行性瓣膜性心脏病而出现射血分数降低的心力衰竭。他在院内出现双侧前循环分水岭梗死,最终不治身亡。本病例因其罕见性而被报道。本病例还旨在描述脑血管动脉病变的模式。