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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

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
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
Ocular findings in Loeys-Dietz syndrome.
Busch C, Voitl R, Goergen B, Zemojtel T, Gehle P, Salchow DJ
Br J Ophthalmol 2018 Aug;102(8):1036-1040. Epub 2017 Nov 16 doi: 10.1136/bjophthalmol-2017-311254. PMID: 29146755
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
Neurovascular manifestations of connective-tissue diseases: A review.
Kim ST, Brinjikji W, Lanzino G, Kallmes DF
Interv Neuroradiol 2016 Dec;22(6):624-637. Epub 2016 Aug 10 doi: 10.1177/1591019916659262. PMID: 27511817Free 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

Surgical Outcome and Histological Differences between Individuals with TGFBR1 and TGFBR2 Mutations in Loeys-Dietz Syndrome.
Seike Y, Matsuda H, Ishibashi-Ueda H, Morisaki H, Morisaki T, Minatoya K, Ogino H
Ann Thorac Cardiovasc Surg 2021 Feb 20;27(1):56-63. Epub 2021 Jan 6 doi: 10.5761/atcs.oa.20-00223. PMID: 33408307Free 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

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
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
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC
N Engl J Med 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. PMID: 16928994

Clinical prediction guides

Burden of Rare Genetic Variants in Spontaneous Coronary Artery Dissection With High-risk Features.
Wang Y, Starovoytov A, Murad AM, Hunker KL, Brunham LR, Li JZ, Saw J, Ganesh SK
JAMA Cardiol 2022 Oct 1;7(10):1045-1055. doi: 10.1001/jamacardio.2022.2970. PMID: 36103205Free 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
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
Neurovascular manifestations of connective-tissue diseases: A review.
Kim ST, Brinjikji W, Lanzino G, Kallmes DF
Interv Neuroradiol 2016 Dec;22(6):624-637. Epub 2016 Aug 10 doi: 10.1177/1591019916659262. PMID: 27511817Free PMC Article
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC
N Engl J Med 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. PMID: 16928994

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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