Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2-Reference-Cited by-同舟云学术

Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2

Published:2022-06-11 Issue:1 Volume:35 Page:
ISSN:1569-9285
Container-title:Interactive CardioVascular and Thoracic Surgery
language:en
Short-container-title:

Author:

Heck Roland¹^ORCID,Fischer-Zirnsak Björn²³^ORCID,Photiadis Joachim⁴^ORCID,Horn Denise²,Gehle Petra⁵

Affiliation:

1. Department of Cardiothoracic and Vascular Surgery, German Heart Center Berlin , Berlin, Germany

2. Department of Medical Genetics and Human Genetics, Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health , Berlin, Germany

3. Max Planck Institute for Molecular Genetics FG Development and Disease , Berlin, Germany

4. Department of Congenital Heart Surgery, Pediatric Heart Surgery, German Heart Center Berlin , Berlin, Germany

5. Department of Cardiology, Charité – Universitätsmedizin Berlin , Berlin, Germany

Abstract

Abstract Our goal was to present 2 infants with confirmed Loeys-Dietz syndrome. The missense mutations in exon 7 of the TGFBR2 gene are only 5 codons apart (c.1597T>C and c.1582C>G). Phenotypically, the aneurysms of the ascending aorta were restricted to different segments of the aorta: the suprajunctional segment in 1 patient and the aortic root in another. These cases highlight the complexity of signaling pathways and gene expression in the pathogenesis of aortic aneurysms.

Publisher

Oxford University Press (OUP)

Subject

Cardiology and Cardiovascular Medicine,Pulmonary and Respiratory Medicine,Surgery

Link

https://academic.oup.com/icvts/advance-article-pdf/doi/10.1093/icvts/ivac159/44022835/ivac159.pdf

Reference7 articles.

1. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2;Loeys;Nat Genet,2005

2. The risk for type B aortic dissection in Marfan syndrome;den Hartog;J Am Coll Cardiol,2015

3. Valve-sparing aortic root replacement in Loeys-Dietz syndrome;Patel;Ann Thorac Surg,2011

4. Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction;Milewicz;Annu Rev Genomics Hum Genet,2008

5. Heterogeneity in the segmental development of the aortic tree: impact on management of genetically triggered aortic aneurysms;Sherif;Aorta (Stamford),2014