Aono-Setoguchi Hitomi, Yagi Hiroki, Akiyama Nana, Takeda Norifumi, Ando Masahiko, Yamauchi Haruo, Komuro Issei, Takeda Norihiko
Department of Cardiovascular Medicine, Graduate School of Medicine University of Tokyo Tokyo Japan.
Marfan Syndrome Center University of Tokyo Hospital Tokyo Japan.
Clin Case Rep. 2024 Aug 8;12(8):e9317. doi: 10.1002/ccr3.9317. eCollection 2024 Aug.
Genetic variants associated with hereditary TAAD may contribute to nonsyndromic TAAD. We present the case of a 72-year-old man with nonsyndromic TAAD undergoing prophylactic surgery after a gene panel test revealed a pathogenic variant in , but the indication for genetic testing in such elderly-onset cases still warrants further discussion.
Hereditary thoracic aortic aneurysm and dissection (TAAD) is a clinical condition resulting in a fatal outcome. Recently, variants in causative genes for syndromic hereditary TAAD, such as Marfan syndrome and Loeys-Dietz syndrome (LDS), have been reported to predispose to the development of nonsyndromic TAAD; however, genetic testing for patients with elderly-onset nonsyndromic TAAD warrants further discussion. We present a 72-year-old nonsyndromic Japanese man with moderate-sized aortic annulus ectasia (AAE) with moderate aortic regurgitation and ascending to distal arch aortic dilatation (maximum diameter: 46 mm). He had been treated for hypertension and dyslipidemia for 7 years, and his eldest son had AAE at 33 years old and type A aortic dissection at 43 years old. Surgical repair was considered a treatment option because the patient potentially had a nonsyndromic hereditary aortic disease, and genetic panel testing for TAAD identified a pathogenic missense variant in (c.934G > A, p.[Gly312Ser]), previously reported in patients with LDS type 1. He was diagnosed with nonsyndromic -related aortopathy and underwent prophylactic surgery using a modified Bentall operation and total arch replacement with open stent graft implantation. Genetic testing was useful in guiding the treatment strategy, but further analysis is warranted to establish the clinical value in the treatment plan for patients with elderly-onset nonsyndromic TAAD.
与遗传性胸主动脉瘤和夹层（TAAD）相关的基因变异可能导致非综合征性TAAD。我们报告了一例72岁非综合征性TAAD男性患者，在基因检测显示某基因存在致病变异后接受了预防性手术，但此类老年发病病例的基因检测指征仍值得进一步探讨。
遗传性胸主动脉瘤和夹层（TAAD）是一种可导致致命后果的临床病症。最近，已报道综合征性遗传性TAAD（如马凡综合征和洛伊茨-迪茨综合征（LDS））的致病基因变异易导致非综合征性TAAD的发生；然而，老年发病的非综合征性TAAD患者的基因检测仍值得进一步探讨。我们报告了一名72岁的非综合征性日本男性患者，患有中度主动脉瓣环扩张（AAE）并伴有中度主动脉瓣反流，升主动脉至远端主动脉弓扩张（最大直径：46毫米）。他患有高血压和血脂异常已7年，其长子在33岁时患有AAE，43岁时发生A型主动脉夹层。由于该患者可能患有非综合征性遗传性主动脉疾病，手术修复被视为一种治疗选择，对TAAD进行的基因检测发现某基因存在一个致病错义变异（c.934G＞A，p.[Gly312Ser]），此前在1型LDS患者中已有报道。他被诊断为与非综合征性相关的主动脉病变，并接受了改良Bentall手术和开放式支架植入全主动脉弓置换的预防性手术。基因检测有助于指导治疗策略，但有必要进行进一步分析，以确定其在老年发病的非综合征性TAAD患者治疗方案中的临床价值。
