Loeys-Dietz syndrome: a primer for diagnosis and management

Gretchen MacCarrick¹, James H Black 3rd², Sarah Bowdin³, Ismail El-Hamamsy⁴, Pamela A Frischmeyer-Guerrerio⁵, Anthony L Guerrerio⁵, Paul D Sponseller⁶, Bart Loeys⁷, Harry C Dietz 3rd⁸

Affiliations

¹ McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
² Division of Vascular Surgery and Endovascular Therapy, The Johns Hopkins Hospital, Baltimore, Maryland, USA.
³ Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
⁴ Department of Cardiac Surgery, Montreal Heart Institute, University of Montreal, Montreal, Quebec, Canada.
⁵ Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
⁶ Department of Orthopaedic Surgery, The Johns Hopkins University, Baltimore, Maryland, USA.
⁷ Center for Medical Genetics, University of Antwerp, Antwerp, Belgium.
⁸ 1] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA [2] Howard Hughes Institute, Chevy Chase, Maryland, USA.

PMID: 24577266
PMCID: PMC4131122
DOI: 10.1038/gim.2014.11

Free PMC article

Review

Loeys-Dietz syndrome: a primer for diagnosis and management

Gretchen MacCarrick et al. Genet Med. 2014 Aug.

Free PMC article

. 2014 Aug;16(8):576-87.

doi: 10.1038/gim.2014.11. Epub 2014 Feb 27.

Authors

Gretchen MacCarrick¹, James H Black 3rd², Sarah Bowdin³, Ismail El-Hamamsy⁴, Pamela A Frischmeyer-Guerrerio⁵, Anthony L Guerrerio⁵, Paul D Sponseller⁶, Bart Loeys⁷, Harry C Dietz 3rd⁸

Affiliations

¹ McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
² Division of Vascular Surgery and Endovascular Therapy, The Johns Hopkins Hospital, Baltimore, Maryland, USA.
³ Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
⁴ Department of Cardiac Surgery, Montreal Heart Institute, University of Montreal, Montreal, Quebec, Canada.
⁵ Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
⁶ Department of Orthopaedic Surgery, The Johns Hopkins University, Baltimore, Maryland, USA.
⁷ Center for Medical Genetics, University of Antwerp, Antwerp, Belgium.
⁸ 1] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA [2] Howard Hughes Institute, Chevy Chase, Maryland, USA.

PMID: 24577266
PMCID: PMC4131122
DOI: 10.1038/gim.2014.11

Abstract

Loeys-Dietz syndrome is a connective tissue disorder predisposing individuals to aortic and arterial aneurysms. Presenting with a wide spectrum of multisystem involvement, medical management for some individuals is complex. This review of literature and expert opinion aims to provide medical guidelines for care of individuals with Loeys-Dietz syndrome.

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Comment in

Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling.
Pyeritz R, Jondeau G, Moran R, De Backer J, Arbustini E, De Paepe A, Milewicz D. Pyeritz R, et al. Genet Med. 2014 Aug;16(8):641-2. doi: 10.1038/gim.2014.63. Genet Med. 2014. PMID: 25093568 No abstract available.
Response to Pyeritz et al.
MacCarrick G, Loeys B, Dietz HC 3rd. MacCarrick G, et al. Genet Med. 2014 Aug;16(8):642-4. doi: 10.1038/gim.2014.59. Genet Med. 2014. PMID: 25093569 No abstract available.

References

1. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006;355:788–798. - PubMed
1. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005;37:275–281. - PubMed
1. van de Laar IM, Oldenburg RA, Pals G, et al. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet. 2011;43:121–126. - PubMed
1. Regalado ES, Guo DC, Villamizar C, NHLBI GO Exome Sequencing Project et al. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res. 2011;109:680–686. - PMC - PubMed
1. Lindsay ME, Schepers D, Bolar NA, et al. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet. 2012;44:922–927. - PMC - PubMed

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Loeys-Dietz syndrome: a primer for diagnosis and management

Affiliations

Loeys-Dietz syndrome: a primer for diagnosis and management

Authors

Affiliations

Abstract

Comment in

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical