PDF(Pubmed)
Abstract：
UNASSIGNED: Loeys-Dietz syndrome (LDS) is a connective tissue disorder that commonly presents with vascular abnormalities. Owing to the rarity and severity of the condition, consensus guidelines for aortic surgery thresholds vary. In addition, evaluation of coronary arteries in patients with LDS (either routinely or before aortic root surgery) remain undefined. In this case report, we discuss a patient with LDS who found to have an ectatic aortic root and a coronary artery aneurysm and discuss guidelines for evaluation and management in this patient population.
UNASSIGNED: A 48-year-old woman was incidentally found to have a 45 mm ectatic aortic root during evaluation for a neck mass. As part of pre-operative evaluation for aortic root replacement, left heart catheterization revealed a left main coronary artery aneurysm. Family history revealed aortic aneurysms, sudden cardiac death, and tall height. Physical examination was notable for pectus excavatum and elongated limbs. Workup for inflammatory aetiologies of aortic root dilation was negative. Genetic testing revealed a heterozygous pathogenic TGBF3 variant, consistent with LDS Type 5. She subsequently underwent two-vessel coronary artery bypass, excision of her left main coronary artery aneurysm, and ascending aortic replacement.
UNASSIGNED: In this case, we describe a patient with LDS who was noted to have a coronary artery aneurysm, a rare finding in the initial presentation of disease. In addition, we examine guidelines regarding evaluation of management of aortic root disease and coronary aneurysms.
UNASSIGNED: A 48-year-old woman was incidentally found to have a 45 mm ectatic aortic root during evaluation for a neck mass. As part of pre-operative evaluation for aortic root replacement, left heart catheterization revealed a left main coronary artery aneurysm. Family history revealed aortic aneurysms, sudden cardiac death, and tall height. Physical examination was notable for pectus excavatum and elongated limbs. Workup for inflammatory aetiologies of aortic root dilation was negative. Genetic testing revealed a heterozygous pathogenic TGBF3 variant, consistent with LDS Type 5. She subsequently underwent two-vessel coronary artery bypass, excision of her left main coronary artery aneurysm, and ascending aortic replacement.
UNASSIGNED: In this case, we describe a patient with LDS who was noted to have a coronary artery aneurysm, a rare finding in the initial presentation of disease. In addition, we examine guidelines regarding evaluation of management of aortic root disease and coronary aneurysms.
摘要：
Loeys-Dietz综合征（LDS）是一种结缔组织疾病，通常表现为血管异常。由于病情的罕见和严重，主动脉手术阈值的共识指南各不相同.此外,LDS患者(常规或主动脉根部手术前)的冠状动脉评估仍不明确.在这个案例报告中,我们讨论了一名LDS患者,该患者发现主动脉根部扩张和冠状动脉瘤,并讨论了该患者人群的评估和治疗指南.
■一名48岁女性在评估颈部肿块时偶然发现主动脉根部45mm。作为主动脉根部置换术前评估的一部分,左心导管检查显示左主干冠状动脉瘤.家族史显示主动脉瘤，心源性猝死,和高的身高。体格检查值得注意的是漏斗胸和细长的四肢。主动脉根部扩张的炎性病因检查为阴性。基因检测揭示了一种杂合致病性TGBF3变体，符合LDS类型5。她随后接受了双管冠状动脉搭桥术,切除她的左主干冠状动脉瘤,升主动脉置换.
■在这种情况下，我们描述了一个LDS患者，他被发现患有冠状动脉瘤，在最初的疾病表现中的罕见发现。此外,我们研究了有关评估主动脉根部疾病和冠状动脉瘤治疗的指南.
■一名48岁女性在评估颈部肿块时偶然发现主动脉根部45mm。作为主动脉根部置换术前评估的一部分,左心导管检查显示左主干冠状动脉瘤.家族史显示主动脉瘤，心源性猝死,和高的身高。体格检查值得注意的是漏斗胸和细长的四肢。主动脉根部扩张的炎性病因检查为阴性。基因检测揭示了一种杂合致病性TGBF3变体，符合LDS类型5。她随后接受了双管冠状动脉搭桥术,切除她的左主干冠状动脉瘤,升主动脉置换.
■在这种情况下，我们描述了一个LDS患者，他被发现患有冠状动脉瘤，在最初的疾病表现中的罕见发现。此外,我们研究了有关评估主动脉根部疾病和冠状动脉瘤治疗的指南.
