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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

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
Meester JAN, Peeters S, Van Den Heuvel L, Vandeweyer G, Fransen E, Cappella E, Dietz HC, Forbus G, Gelb BD, Goldmuntz E, Hoskoppal A, Landstrom AP, Lee T, Mital S, Morris S, Olson AK, Renard M, Roden DM, Singh MN, Selamet Tierney ES, Tretter JT, Van Driest SL, Willing M, Verstraeten A, Van Laer L, Lacro RV, Loeys BL
Genet Med 2022 May;24(5):1045-1053. Epub 2022 Jan 17 doi: 10.1016/j.gim.2021.12.015. PMID: 35058154Free PMC Article
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
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
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C
Am J Hum Genet 2007 Sep;81(3):454-66. Epub 2007 Jul 25 doi: 10.1086/520125. PMID: 17701892Free 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

Diameter and dissection of the abdominal aorta and the risk of distal aortic reoperation after surgery for type A aortic dissection.
Biancari F, Perrotti A, Juvonen T, Mariscalco G, Pettinari M, Lega JR, Di Perna D, Mäkikallio T, Onorati F, Wisniewki K, Demal T, Pol M, Gatti G, Vendramin I, Rinaldi M, Quintana E, Peterss S, Field M, Fiore A
Int J Cardiol 2024 Jun 1;404:131938. Epub 2024 Mar 7 doi: 10.1016/j.ijcard.2024.131938. PMID: 38458387
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
A healthy tension in translational research.
Dietz H
J Clin Invest 2014 Apr;124(4):1425-9. Epub 2014 Apr 1 doi: 10.1172/JCI75840. PMID: 24691476Free PMC Article
Connective tissue disorders and cardiovascular complications: the indomitable role of transforming growth factor-beta signaling.
Wheeler JB, Ikonomidis JS, Jones JA
Adv Exp Med Biol 2014;802:107-27. doi: 10.1007/978-94-007-7893-1_8. PMID: 24443024Free PMC Article
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

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
Meester JAN, Peeters S, Van Den Heuvel L, Vandeweyer G, Fransen E, Cappella E, Dietz HC, Forbus G, Gelb BD, Goldmuntz E, Hoskoppal A, Landstrom AP, Lee T, Mital S, Morris S, Olson AK, Renard M, Roden DM, Singh MN, Selamet Tierney ES, Tretter JT, Van Driest SL, Willing M, Verstraeten A, Van Laer L, Lacro RV, Loeys BL
Genet Med 2022 May;24(5):1045-1053. Epub 2022 Jan 17 doi: 10.1016/j.gim.2021.12.015. PMID: 35058154Free 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
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C
Am J Hum Genet 2007 Sep;81(3):454-66. Epub 2007 Jul 25 doi: 10.1086/520125. PMID: 17701892Free 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

Clinical prediction guides

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
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
Meester JAN, Peeters S, Van Den Heuvel L, Vandeweyer G, Fransen E, Cappella E, Dietz HC, Forbus G, Gelb BD, Goldmuntz E, Hoskoppal A, Landstrom AP, Lee T, Mital S, Morris S, Olson AK, Renard M, Roden DM, Singh MN, Selamet Tierney ES, Tretter JT, Van Driest SL, Willing M, Verstraeten A, Van Laer L, Lacro RV, Loeys BL
Genet Med 2022 May;24(5):1045-1053. Epub 2022 Jan 17 doi: 10.1016/j.gim.2021.12.015. PMID: 35058154Free 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
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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