UNASSIGNED: Here, we present a young male patient admitted to the emergency department of our hospital due to a complaint of acute chest pain. During his hospitalization, we utilized several tools, including imaging modalities, genetic analyses, and clinical strategies, to ensure a proper diagnosis and management of the patient. The results indicated that the patient suffered from SCAD, as well as vascular Ehlers-Danlos syndrome (vEDS). Unfortunately, the patient died of SCAD-related sudden cardiac death (SCD) on the ninth day before the DNA analysis results were obtained. Despite a global effort and huge progress in the clinical characterization of SCAD, as well as patients\' assessments, its pathophysiology remains poorly understood, with a significant recurrence risk and no specific disease-modifying therapy.
UNASSIGNED: Vascular Ehlers-Danlos syndrome, as an inherited connective tissue disorder characterized by congenital connective tissue dysplasia, is a rare and particularly challenging monogenetic disease. It can cause life-threatening changes, including arterial dissections and ruptures, and lead to early death due to COL3A1 pathogenic variants. It is also a rare cause of SCAD. Currently, the gold standard for SCAD diagnosis is coronary angiography (CAG).
未经评估:这里,我们介绍了一名年轻男性患者,因急性胸痛而入院。在他住院期间,我们利用了几个工具,包括成像模式,遗传分析,和临床策略,以确保患者的正确诊断和管理。结果显示病人患有SCAD,以及血管Ehlers-Danlos综合征(vEDS)。不幸的是,患者在获得DNA分析结果前第9天死于SCAD相关心脏性猝死(SCD).尽管在SCAD的临床表征方面取得了全球性的努力和巨大的进展,以及患者的评估,它的病理生理学仍然知之甚少,具有显著的复发风险,并且没有特定的疾病改善疗法。
未经证实:血管Ehlers-Danlos综合征,作为一种以先天性结缔组织发育不良为特征的遗传性结缔组织疾病,是一种罕见且特别具有挑战性的单基因疾病。它会导致危及生命的变化,包括动脉夹层和破裂,并因COL3A1致病变种而导致早期死亡。这也是SCAD的罕见原因。目前,SCAD诊断的金标准是冠状动脉造影(CAG).