Diagnosis of Aortic Aneurysm in a patient with Marfan's Syndrome

The Marfan’s syndrome is an autosomal dominant genetic disease that affects connective tissue, with an incidence of approximately one case for every 5000 individuals. Cardiovascular involvement often occurs in adulthood. As the most common manifestation of the syndrome, ascending aortic aneurysm frequently leads individuals to conditions of clinical emergencies, the emergency room and intensive care unit are a common sites for diagnosing cardiac disorders in patients with Marfan. In this article we find the case report of a 41-year-old patient with a history of chest pain, signs and symptoms of heart failure, admitted to the ICU, with phenotypic manifestations of the disease, whose aortic aneurysm was diagnosed during the initial examination of POCUS. As it is a relatively rare diagnosis, in a rural patient who until now was unaware of the diagnosis itself, the result of which was identified in a routine examination in the ICU, performed with a portable device, the ability to change the outcome of a disease with high morbidity and mortality with a simple exam, easy to access and with low training requirements in a highly complex unit, even in distant care units in a population with low socioeconomic status. This article aims to show how a simple examination, POCUS, performed with a handheld device, is able to identify complex, high-impact diseases.

马方综合征（Marfan’s syndrome）是一种常染色体显性遗传性结缔组织疾病，发病率约为每5000人中1例。该病的心血管受累表现常于成年期出现。作为该综合征最常见的临床表现，升主动脉瘤常导致患者陷入临床急症状态，急诊室与重症监护病房（ICU）是马方综合征患者心脏病变的常见诊断场所。本文报道1例41岁患者的临床病例：该患者有胸痛病史，存在心力衰竭的体征与症状，被收入重症监护病房，具备该病的典型表型特征，其主动脉瘤在床旁超声（Point-of-Care Ultrasound，POCUS）的初始检查中得以确诊。由于该病例相对罕见，且该农村患者此前从未知晓自身患病，其主动脉瘤是在重症监护病房内使用便携式设备完成的常规检查中被发现的——这项操作简便、易于获取且培训门槛较低的检查手段，可在高复杂度的重症监护单元中，甚至在社会经济地位较低人群的偏远诊疗机构中，改变这类高发病率与高死亡率疾病的转归。本文旨在展示，使用手持设备完成的床旁超声检查，如何能够识别这类复杂且具有重大临床影响的疾病。