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Familial aortopathy

MedGen UID:
450537
•Concept ID:
CN078214
•
Disease or Syndrome
Related genes: TGFBR1, FBN1, COL3A1

Professional guidelines

PubMed

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Wooderchak-Donahue W, VanSant-Webb C, Tvrdik T, Plant P, Lewis T, Stocks J, Raney JA, Meyers L, Berg A, Rope AF, Yetman AT, Bleyl SB, Mesley R, Bull DA, Collins RT, Ojeda MM, Roberts A, Lacro R, Woerner A, Stoler J, Bayrak-Toydemir P
Am J Med Genet A 2015 Aug;167A(8):1747-57. Epub 2015 May 5 doi: 10.1002/ajmg.a.37085. PMID: 25944730

Recent clinical studies

Etiology

Characterization of syndromic, nonsyndromic familial, and sporadic type B aortic dissection.
Shalhub S, Rah JY, Campbell R, Sweet MP, Quiroga E, Starnes BW
J Vasc Surg 2021 Jun;73(6):1906-1914.e2. Epub 2020 Nov 27 doi: 10.1016/j.jvs.2020.10.080. PMID: 33249204

Diagnosis

Genetics, Pregnancy, and Aortic Degeneration.
Crawford JD, Hsieh CM, Schenning RC, Slater MS, Landry GJ, Moneta GL, Mitchell EL
Ann Vasc Surg 2016 Jan;30:158.e5-9. Epub 2015 Sep 14 doi: 10.1016/j.avsg.2015.06.100. PMID: 26381327
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Wooderchak-Donahue W, VanSant-Webb C, Tvrdik T, Plant P, Lewis T, Stocks J, Raney JA, Meyers L, Berg A, Rope AF, Yetman AT, Bleyl SB, Mesley R, Bull DA, Collins RT, Ojeda MM, Roberts A, Lacro R, Woerner A, Stoler J, Bayrak-Toydemir P
Am J Med Genet A 2015 Aug;167A(8):1747-57. Epub 2015 May 5 doi: 10.1002/ajmg.a.37085. PMID: 25944730

Prognosis

Characterization of syndromic, nonsyndromic familial, and sporadic type B aortic dissection.
Shalhub S, Rah JY, Campbell R, Sweet MP, Quiroga E, Starnes BW
J Vasc Surg 2021 Jun;73(6):1906-1914.e2. Epub 2020 Nov 27 doi: 10.1016/j.jvs.2020.10.080. PMID: 33249204
A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression.
Al Maskari R, Yasmin, Cleary S, Figg N, Mehta S, Rassl D, Wilkinson I, O'Shaughnessy KM
Eur J Hum Genet 2016 Jan;25(1):157-160. Epub 2016 Oct 26 doi: 10.1038/ejhg.2016.143. PMID: 27782106Free PMC Article

Clinical prediction guides

A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression.
Al Maskari R, Yasmin, Cleary S, Figg N, Mehta S, Rassl D, Wilkinson I, O'Shaughnessy KM
Eur J Hum Genet 2016 Jan;25(1):157-160. Epub 2016 Oct 26 doi: 10.1038/ejhg.2016.143. PMID: 27782106Free PMC Article

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Table of contents

    Clinical resources

    Practice guidelines

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    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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