Literature DB >> 29780714

How can genetic diagnosis inform the decision of when to operate?

Maral Ouzounian1,2, Scott A LeMaire3,4.   

Abstract

Genetic discovery for heritable thoracic aortic disease (HTAD) has been progressing at a brisk pace. Surgical management of thoracic aortic aneurysms and dissections has become more personalized, with genetic factors increasingly informing the decision of when to operate on patients. An improved understanding of genotype-phenotype correlations in patients with HTAD will ultimately lead to gene- and mutation-specific recommendations for surgical repair. Until more robust data from larger cohorts can inform our decisions, patients with HTAD should be seen by an aortic specialist for a tailored approach to elective surgical repair.

Entities:  

Keywords:  Thoracic aortic aneurysm; aortic dissection; genetics; surgery

Year:  2018        PMID: 29780714      PMCID: PMC5945784          DOI: 10.21037/jovs.2018.03.08

Source DB:  PubMed          Journal:  J Vis Surg        ISSN: 2221-2965


  63 in total

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Journal:  J Vasc Surg       Date:  2009-07-26       Impact factor: 4.268

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Journal:  J Am Coll Cardiol       Date:  2015-04-07       Impact factor: 24.094

10.  Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation.

Authors:  Marco Ritelli; Nicola Chiarelli; Chiara Dordoni; Stefano Quinzani; Marina Venturini; Roberto Maroldi; Piergiacomo Calzavara-Pinton; Marina Colombi
Journal:  BMC Med Genet       Date:  2014-08-28       Impact factor: 2.103

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  3 in total

Review 1.  Bicuspid aortic valve and aortic coarctation in congenital heart disease-important aspects for treatment with focus on aortic vasculopathy.

Authors:  Christoph Sinning; Elvin Zengin; Rainer Kozlik-Feldmann; Stefan Blankenberg; Carsten Rickers; Yskert von Kodolitsch; Evaldas Girdauskas
Journal:  Cardiovasc Diagn Ther       Date:  2018-12

2.  The impact of genetic factors and testing on operative indications and extent of surgery for aortopathy.

Authors:  Elizabeth L Norton; Bo Yang
Journal:  JTCVS Open       Date:  2021-03-05

Review 3.  Cardiac Surgery During the Coronavirus Disease 2019 Pandemic: Perioperative Considerations and Triage Recommendations.

Authors:  Vivek Patel; Ernesto Jimenez; Lorraine Cornwell; Trung Tran; David Paniagua; Ali E Denktas; Andrew Chou; Samuel J Hankins; Biykem Bozkurt; Todd K Rosengart; Hani Jneid
Journal:  J Am Heart Assoc       Date:  2020-05-16       Impact factor: 5.501

  3 in total

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