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Loeys-Dietz Syndrome Type 1

MedGen UID:
395828
•Concept ID:
C2697933
•
Disease or Syndrome

Definition

A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoeys-Dietz Syndrome Type 1

Professional guidelines

PubMed

Management of the aortic arch in patients with Loeys-Dietz syndrome.
Schoenhoff FS, Alejo DE, Black JH, Crawford TC, Dietz HC, Grimm JC, Magruder JT, Patel ND, Vricella LA, Young A, Carrel TP, Cameron DE
J Thorac Cardiovasc Surg 2020 Nov;160(5):1166-1175. Epub 2019 Sep 9 doi: 10.1016/j.jtcvs.2019.07.130. PMID: 31627951
Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys-Dietz Syndromes.
Takeda N, Yagi H, Hara H, Fujiwara T, Fujita D, Nawata K, Inuzuka R, Taniguchi Y, Harada M, Toko H, Akazawa H, Komuro I
Int Heart J 2016 May 25;57(3):271-7. Epub 2016 May 13 doi: 10.1536/ihj.16-094. PMID: 27181042
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090

Recent clinical studies

Etiology

Outcomes After Endovascular Aortic Intervention in Patients With Connective Tissue Disease.
Olsson KW, Mani K, Burdess A, Patterson S, Scali ST, Kölbel T, Panuccio G, Eleshra A, Bertoglio L, Ardita V, Melissano G, Acharya A, Bicknell C, Riga C, Gibbs R, Jenkins M, Bakthavatsalam A, Sweet MP, Kasprzak PM, Pfister K, Oikonomou K, Heloise T, Sobocinski J, Butt T, Dias N, Tang C, Cheng SWK, Vandenhaute S, Van Herzeele I, Sorber RA, Black JH 3rd, Tenorio ER, Oderich GS, Vincent Z, Khashram M, Eagleton MJ, Pedersen SF, Budtz-Lilly J, Lomazzi C, Bissacco D, Trimarchi S, Huerta A, Riambau V, Wanhainen A
JAMA Surg 2023 Aug 1;158(8):832-839. doi: 10.1001/jamasurg.2023.2128. PMID: 37314760Free PMC Article
Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease.
Regalado ES, Morris SA, Braverman AC, Hostetler EM, De Backer J, Li R, Pyeritz RE, Yetman AT, Cervi E, Shalhub S, Jeremy R, LeMaire S, Ouzounian M, Evangelista A, Boileau C, Jondeau G, Milewicz DM
J Am Coll Cardiol 2022 Aug 30;80(9):857-869. doi: 10.1016/j.jacc.2022.05.054. PMID: 36007983
Predictors of low bone density and fracture risk in Loeys-Dietz syndrome.
Guerrerio AL, Mateja A, Rasooly M, Levin S, Magnani A, Dempsey C, MacCarrick G, Dietz HC, Brittain E, Boyce AM, Frischmeyer-Guerrerio PA
Genet Med 2022 Feb;24(2):419-429. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.10.002. PMID: 34906513Free PMC Article
Audiologic and Otologic Clinical Manifestations of Loeys-Dietz Syndrome: A Heritable Connective Tissue Disorder.
Jeon JW, Christensen J, Chisholm J, Zalewski C, Rasooly M, Dempsey C, Magnani A, Frischmeyer-Guerrerio P, Brewer CC, Kim HJ
Otolaryngol Head Neck Surg 2022 Feb;166(2):357-362. Epub 2021 May 11 doi: 10.1177/01945998211008899. PMID: 33971761Free PMC Article
Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.
Braverman AC, Mittauer E, Harris KM, Evangelista A, Pyeritz RE, Brinster D, Conklin L, Suzuki T, Fanola C, Ouzounian M, Chen E, Myrmel T, Bekeredjian R, Hutchison S, Coselli J, Gilon D, O'Gara P, Davis M, Isselbacher E, Eagle K
JAMA Cardiol 2021 Jan 1;6(1):58-66. doi: 10.1001/jamacardio.2020.4876. PMID: 33052376Free PMC Article

Diagnosis

Clinical features and complications of Loeys-Dietz syndrome: A systematic review.
Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564
Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.
Braverman AC, Mittauer E, Harris KM, Evangelista A, Pyeritz RE, Brinster D, Conklin L, Suzuki T, Fanola C, Ouzounian M, Chen E, Myrmel T, Bekeredjian R, Hutchison S, Coselli J, Gilon D, O'Gara P, Davis M, Isselbacher E, Eagle K
JAMA Cardiol 2021 Jan 1;6(1):58-66. doi: 10.1001/jamacardio.2020.4876. PMID: 33052376Free PMC Article
The Genetics of Pneumothorax.
Boone PM, Scott RM, Marciniak SJ, Henske EP, Raby BA
Am J Respir Crit Care Med 2019 Jun 1;199(11):1344-1357. doi: 10.1164/rccm.201807-1212CI. PMID: 30681372Free PMC Article
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090
Loeys-Dietz syndrome.
Van Laer L, Dietz H, Loeys B
Adv Exp Med Biol 2014;802:95-105. doi: 10.1007/978-94-007-7893-1_7. PMID: 24443023

Therapy

Connective tissue disease type mediates branch patency of grafts in open thoracoabdominal aortic reconstruction.
Sorber R, Bowen CJ, Hicks CW, Black JH 3rd
J Vasc Surg 2022 Jan;75(1):90-98. Epub 2021 Jun 26 doi: 10.1016/j.jvs.2021.05.062. PMID: 34186165Free PMC Article
Transforming Growth Factor-β and the Renin-Angiotensin System in Syndromic Thoracic Aortic Aneurysms: Implications for Treatment.
van Dorst DCH, de Wagenaar NP, van der Pluijm I, Roos-Hesselink JW, Essers J, Danser AHJ
Cardiovasc Drugs Ther 2021 Dec;35(6):1233-1252. Epub 2020 Dec 7 doi: 10.1007/s10557-020-07116-4. PMID: 33283255Free PMC Article
A progress report on reimplantation of the aortic valve.
David TE, David CM, Ouzounian M, Feindel CM, Lafreniere-Roula M
J Thorac Cardiovasc Surg 2021 Mar;161(3):890-899.e1. Epub 2020 Sep 5 doi: 10.1016/j.jtcvs.2020.07.121. PMID: 33008570
Adult surgical experience with Loeys-Dietz syndrome.
Williams JA, Hanna JM, Shah AA, Andersen ND, McDonald MT, Jiang YH, Wechsler SB, Zomorodi A, McCann RL, Hughes GC
Ann Thorac Surg 2015 Apr;99(4):1275-81. Epub 2015 Feb 10 doi: 10.1016/j.athoracsur.2014.11.021. PMID: 25678502
Loeys-Dietz syndrome.
Van Laer L, Dietz H, Loeys B
Adv Exp Med Biol 2014;802:95-105. doi: 10.1007/978-94-007-7893-1_7. PMID: 24443023

Prognosis

Prevalence and Complications of Aberrant Subclavian Artery in Patients With Heritable and Nonheritable Arteriopathies.
Giuliani L, Di Toro A, Urtis M, Narula N, Grasso M, Pelenghi S, Belliato M, Bozzani A, Arici V, Pellegrini C, Serio A, Pilotto A, Fergnani V, Antoniazzi E, Magrassi L, Dore R, Valentini A, Preda L, Calliada F, Quaretti P, Pirrelli S, Kodama T, Vricella L, Cameron D, Arbustini E
J Am Coll Cardiol 2023 Mar 14;81(10):979-991. doi: 10.1016/j.jacc.2023.01.005. PMID: 36889877
Predictors of low bone density and fracture risk in Loeys-Dietz syndrome.
Guerrerio AL, Mateja A, Rasooly M, Levin S, Magnani A, Dempsey C, MacCarrick G, Dietz HC, Brittain E, Boyce AM, Frischmeyer-Guerrerio PA
Genet Med 2022 Feb;24(2):419-429. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.10.002. PMID: 34906513Free PMC Article
Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.
Braverman AC, Mittauer E, Harris KM, Evangelista A, Pyeritz RE, Brinster D, Conklin L, Suzuki T, Fanola C, Ouzounian M, Chen E, Myrmel T, Bekeredjian R, Hutchison S, Coselli J, Gilon D, O'Gara P, Davis M, Isselbacher E, Eagle K
JAMA Cardiol 2021 Jan 1;6(1):58-66. doi: 10.1001/jamacardio.2020.4876. PMID: 33052376Free PMC Article
Cardiovascular surgery in Loeys-Dietz syndrome types 1-4.
Krohg-Sørensen K, Lingaas PS, Lundblad R, Seem E, Paus B, Geiran OR
Eur J Cardiothorac Surg 2017 Dec 1;52(6):1125-1131. doi: 10.1093/ejcts/ezx147. PMID: 28541520
A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling.
Hitchcock E, Gibson WT
J Genet Couns 2017 Feb;26(1):21-31. Epub 2016 Oct 14 doi: 10.1007/s10897-016-0029-8. PMID: 27743245Free PMC Article

Clinical prediction guides

Prevalence and Complications of Aberrant Subclavian Artery in Patients With Heritable and Nonheritable Arteriopathies.
Giuliani L, Di Toro A, Urtis M, Narula N, Grasso M, Pelenghi S, Belliato M, Bozzani A, Arici V, Pellegrini C, Serio A, Pilotto A, Fergnani V, Antoniazzi E, Magrassi L, Dore R, Valentini A, Preda L, Calliada F, Quaretti P, Pirrelli S, Kodama T, Vricella L, Cameron D, Arbustini E
J Am Coll Cardiol 2023 Mar 14;81(10):979-991. doi: 10.1016/j.jacc.2023.01.005. PMID: 36889877
Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature.
Baldo F, Morra L, Feresin A, Faletra F, Al Naber Y, Memo L, Travan L
Ital J Pediatr 2022 Jun 6;48(1):85. doi: 10.1186/s13052-022-01281-y. PMID: 35668506Free PMC Article
Clinical features and complications of Loeys-Dietz syndrome: A systematic review.
Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564
Predictors of low bone density and fracture risk in Loeys-Dietz syndrome.
Guerrerio AL, Mateja A, Rasooly M, Levin S, Magnani A, Dempsey C, MacCarrick G, Dietz HC, Brittain E, Boyce AM, Frischmeyer-Guerrerio PA
Genet Med 2022 Feb;24(2):419-429. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.10.002. PMID: 34906513Free PMC Article
Audiologic and Otologic Clinical Manifestations of Loeys-Dietz Syndrome: A Heritable Connective Tissue Disorder.
Jeon JW, Christensen J, Chisholm J, Zalewski C, Rasooly M, Dempsey C, Magnani A, Frischmeyer-Guerrerio P, Brewer CC, Kim HJ
Otolaryngol Head Neck Surg 2022 Feb;166(2):357-362. Epub 2021 May 11 doi: 10.1177/01945998211008899. PMID: 33971761Free PMC Article

Recent systematic reviews

Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients' experiences and perceptions.
Velvin G, Johansen H, Østertun-Geirdal A, Bathen T
Orphanet J Rare Dis 2023 May 19;18(1):119. doi: 10.1186/s13023-023-02709-2. PMID: 37208760Free PMC Article
Clinical features and complications of Loeys-Dietz syndrome: A systematic review.
Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564

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