Management of an elderly patient with nonsyndromic TGFBR1‐related aortopathy: A case report

• Published in: Clinical case reports Vol. 12; no. 8; pp. e9317 - n/a
• Main Authors: Aono‐Setoguchi, Hitomi, Yagi, Hiroki, Akiyama, Nana, Takeda, Norifumi, Ando, Masahiko, Yamauchi, Haruo, Komuro, Issei, Takeda, Norihiko
• Format: Journal Article
• Language: English
• Published: England John Wiley & Sons, Inc 01.08.2024; Wiley
• Subjects: Aortic aneurysms; Atherosclerosis; Case reports; Coronary vessels; Dissection; Genes; Genetic counseling; Genetic testing; hereditary aortic disease; Hospitals; Kinases; Laboratories; Ligands; Loeys–Dietz syndrome; next‐generation sequencing; nonsyndromic TGFBR1‐related aortopathy; Patients; Surgery; Japan; nonsyndromic TGFBR1‐related aortopathy; hereditary aortic disease; next‐generation sequencing; Loeys–Dietz syndrome
• ISSN: 2050-0904; 2050-0904
• DOI: 10.1002/ccr3.9317

Key Clinical Message 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 TGFBR1, but the indication for genetic testing in such elderly‐onset cases still warrants further discussion. Hereditary thoracic aortic aneurysm and dissection (TAAD) is a serious 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 TGFBR1 (c.934G > A, p.[Gly312Ser]), previously reported in patients with LDS type 1. He was diagnosed with nonsyndromic TGFBR1‐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.