Literature DB >> 30833837

Preventing a Catastrophe: Increasing Awareness of Loeys-Dietz Syndrome.

Bradley S Kane, Kamran Shamsa.   

Abstract

Loeys-Dietz syndrome is a genetic disorder that predisposes patients to aortic aneurysms. If left untreated, the natural history of the associated aortopathy often culminates in fatal aortic dissection. We describe the case of a 21-year-old man who was diagnosed with Loeys-Dietz syndrome after 2 family members died of aortic dissection. This case highlights the importance of increased physician awareness of this syndrome, which can play a crucial role in preventing premature sudden cardiac death caused by aortic catastrophe.

Entities:  

Keywords:  Aneurysm, dissecting/genetics; Loeys-Dietz syndrome/diagnosis/genetics/pathology/therapy; aortic aneurysm, thoracic/genetics; genetic predisposition to disease; practice guidelines as topic; receptors, transforming growth factor beta/genetics; risk factors

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Year:  2019        PMID: 30833837      PMCID: PMC6379001          DOI: 10.14503/THIJ-17-6387

Source DB:  PubMed          Journal:  Tex Heart Inst J        ISSN: 0730-2347


  9 in total

1.  2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine.

Authors:  Loren F Hiratzka; George L Bakris; Joshua A Beckman; Robert M Bersin; Vincent F Carr; Donald E Casey; Kim A Eagle; Luke K Hermann; Eric M Isselbacher; Ella A Kazerooni; Nicholas T Kouchoukos; Bruce W Lytle; Dianna M Milewicz; David L Reich; Souvik Sen; Julie A Shinn; Lars G Svensson; David M Williams
Journal:  Circulation       Date:  2010-03-16       Impact factor: 29.690

Review 2.  Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management.

Authors:  Timothy E Paterick; Julie A Humphries; Khawaja Afzal Ammar; M Fuad Jan; Rachel Loberg; Michelle Bush; Bijoy K Khandheria; A Jamil Tajik
Journal:  Am J Med       Date:  2013-06-22       Impact factor: 4.965

3.  Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome.

Authors:  Dominica Zentner; Malcolm West; Lesley C Adès
Journal:  Heart Lung Circ       Date:  2016-12-24       Impact factor: 2.975

4.  Decreased Aortic Elasticity in Children With Marfan Syndrome or Loeys-Dietz Syndrome.

Authors:  Yohei Akazawa; Noriko Motoki; Akira Tada; Shoko Yamazaki; Akira Hachiya; Satoshi Matsuzaki; Motoko Kamiya; Tomohiko Nakamura; Tomoki Kosho; Yuji Inaba
Journal:  Circ J       Date:  2016-10-13       Impact factor: 2.993

Review 5.  The Loeys-Dietz syndrome: an update for the clinician.

Authors:  Christine Van Hemelrijk; Marjolijn Renard; Bart Loeys
Journal:  Curr Opin Cardiol       Date:  2010-11       Impact factor: 2.161

6.  Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Authors:  Bart L Loeys; Ulrike Schwarze; Tammy Holm; Bert L Callewaert; George H Thomas; Hariyadarshi Pannu; Julie F De Backer; Gretchen L Oswald; Sofie Symoens; Sylvie Manouvrier; Amy E Roberts; Francesca Faravelli; M Alba Greco; Reed E Pyeritz; Dianna M Milewicz; Paul J Coucke; Duke E Cameron; Alan C Braverman; Peter H Byers; Anne M De Paepe; Harry C Dietz
Journal:  N Engl J Med       Date:  2006-08-24       Impact factor: 91.245

7.  Cardiovascular operations for Loeys-Dietz syndrome: Intermediate-term results.

Authors:  Nishant D Patel; Todd Crawford; J Trent Magruder; Diane E Alejo; Narutoshi Hibino; James Black; Harry C Dietz; Luca A Vricella; Duke E Cameron
Journal:  J Thorac Cardiovasc Surg       Date:  2016-11-16       Impact factor: 5.209

8.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

Review 9.  Loeys-Dietz syndrome: a primer for diagnosis and management.

Authors:  Gretchen MacCarrick; James H Black; Sarah Bowdin; Ismail El-Hamamsy; Pamela A Frischmeyer-Guerrerio; Anthony L Guerrerio; Paul D Sponseller; Bart Loeys; Harry C Dietz
Journal:  Genet Med       Date:  2014-02-27       Impact factor: 8.822

  9 in total

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