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A familial case of aortic dilatation with p.Tyr470Cys in TGFBR2 in which the phenotype included only vascular lesions

Published online by Cambridge University Press:  04 October 2024

Hidenori Yamamoto Open the ORCID record for Hidenori Yamamoto [Opens in a new window] ,
Ayako Tanabe  and
Taichi Kato Open the ORCID record for Taichi Kato [Opens in a new window]
Hidenori Yamamoto
Affiliation:
Department of Pediatric Cardiology, Children’s Heart Center, Nagoya University Hospital, Nagoya, Japan Department of Pediatrics, TOYOTA Memorial Hospital, Toyota, Japan
Ayako Tanabe
Affiliation:
Department of Medical Genetics, TOYOTA Memorial Hospital, Toyota, Japan
Taichi Kato*
Affiliation:
Department of Pediatric Cardiology, Children’s Heart Center, Nagoya University Hospital, Nagoya, Japan
*
Corresponding author: Taichi Kato; Email: ktaichi@med.nagoya-u.ac.jp
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Abstract

Hereditary connective tissue diseases have different risks of aortic dissection depending on the causative gene. We report a family with no extravascular phenotype and a clinical diagnosis of familial thoracic aortic aneurysm and dissection, but genetic testing confirmed p.Tyr470Cys in TGFBR2, which is typically the responsible gene for Loeys–Dietz syndrome. Validation of the clinical diagnosis by genetic testing is warranted.

Keywords

Hereditary connective tissue diseasesLoeys–Dietz syndromeMarfan syndromefamilial thoracic aortic aneurysm and dissectionTGFBR2
Type
Brief Report
Information
Cardiology in the Young , Volume 34 , Issue 9 , September 2024 , pp. 2030 - 2032
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Copyright
© The Author(s), 2024. Published by Cambridge University Press

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References

Isselbacher, EM, Preventza, O, Hamilton, Black J et al. ACC/AHA guideline for the diagnosis and management of aortic disease: a report of the American eart Association/American College of Cardiology Joint Committee on clinical practice guidelines. Circulation 2022; 146: e334–e482. DOI: 10.1161/CIR.000000000000.1106 CrossRefGoogle Scholar
Jondeau, G, Ropers, J, Regalado, E et al. International registry of patients carrying TGFBR1 or, TGFBR2. Mutations: results of the MAC (Montalcino aortic consortium). Circ Cardiovasc Genet. 2016; 9:548–558. DOI: 10.1161/CIRCGENETICS.1161485.CrossRefGoogle ScholarPubMed
Teixidó-Tura, G, Franken, R, Galuppo, V et al. Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome. Heart 2016; 102: 626–632. DOI: 10.1136/heartjnl-2015-308535.CrossRefGoogle ScholarPubMed
Pannu, H, Fadulu, VT, Chang, J et al. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation 2005; 112 : 513–520. DOI: 10.1161/CIRCULATIONAHA.105.537340.CrossRefGoogle ScholarPubMed