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Marfan syndrome, incomplete

MedGen UID:
808151
•Concept ID:
CN221598
•
Disease or Syndrome

Professional guidelines

PubMed

Detection of ten novel FBN1 mutations in Chinese patients with typical or incomplete Marfan syndrome and an overview of the genotype-phenotype correlations.
Gao L, Tian T, Zhou X, Fan L, Wang R, Wu H
Int J Cardiol 2019 Oct 15;293:186-191. Epub 2019 Jun 28 doi: 10.1016/j.ijcard.2019.06.066. PMID: 31279664

Recent clinical studies

Etiology

Association of Pectus Excavatum With Ventricular Remodelling and Mitral Valve Abnormalities in Marfan Syndrome.
Abdulmonem L Hashem D, Chan VSH, Hanneman K, Wald RM, Thavendiranathan P, Ouzounian M, Oechslin E, Karur GR
Can Assoc Radiol J 2023 May;74(2):446-454. Epub 2022 Sep 27 doi: 10.1177/08465371221127236. PMID: 36164999
Oxidative stress in genetically triggered thoracic aortic aneurysm: role in pathogenesis and therapeutic opportunities.
Portelli SS, Hambly BD, Jeremy RW, Robertson EN
Redox Rep 2021 Dec;26(1):45-52. doi: 10.1080/13510002.2021.1899473. PMID: 33715602Free PMC Article
Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study.
Böker T, Vanem TT, Pripp AH, Rand-Hendriksen S, Paus B, Smith HJ, Lundby R
Spine J 2019 Aug;19(8):1412-1421. Epub 2019 Apr 15 doi: 10.1016/j.spinee.2019.04.010. PMID: 30998996
Angiogenesis and remodelling in human thoracic aortic aneurysms.
Kessler K, Borges LF, Ho-Tin-Noé B, Jondeau G, Michel JB, Vranckx R
Cardiovasc Res 2014 Oct 1;104(1):147-59. Epub 2014 Aug 19 doi: 10.1093/cvr/cvu196. PMID: 25139748
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C
Eur J Hum Genet 2009 Sep;17(9):1121-8. Epub 2009 Mar 18 doi: 10.1038/ejhg.2009.36. PMID: 19293843Free PMC Article

Diagnosis

Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study.
Böker T, Vanem TT, Pripp AH, Rand-Hendriksen S, Paus B, Smith HJ, Lundby R
Spine J 2019 Aug;19(8):1412-1421. Epub 2019 Apr 15 doi: 10.1016/j.spinee.2019.04.010. PMID: 30998996
Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.
Groth KA, Von Kodolitsch Y, Kutsche K, Gaustadnes M, Thorsen K, Andersen NH, Gravholt CH
Genet Med 2017 Jul;19(7):772-777. Epub 2016 Dec 1 doi: 10.1038/gim.2016.181. PMID: 27906200
Molecular analysis for diagnosis of Marfan syndrome and Marfan-associated disorders.
Gao LG, Yao XP, Zhang L, Hui RT, Zhou XL
Chin Med J (Engl) 2011 Mar;124(6):930-4. PMID: 21518605
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C
Eur J Hum Genet 2009 Sep;17(9):1121-8. Epub 2009 Mar 18 doi: 10.1038/ejhg.2009.36. PMID: 19293843Free PMC Article
The molecular genetics of Marfan syndrome and related microfibrillopathies.
Robinson PN, Godfrey M
J Med Genet 2000 Jan;37(1):9-25. doi: 10.1136/jmg.37.1.9. PMID: 10633129Free PMC Article

Therapy

Extended Stent Coverage Decreases Distal Aortic Segmental Enlargement After the Endovascular Repair of Acute Complicated Type B Aortic Dissection: A Multi-Center Retrospective Study of 814 Patients.
Liu J, Yan C, Li L, Feng H, Xie S, Zhang G, Cheng W, Guo M, Liu M
J Endovasc Ther 2022 Feb;29(1):96-108. Epub 2021 Aug 16 doi: 10.1177/15266028211036479. PMID: 34399592
Pharmacologic Management of Aneurysms.
Lindeman JH, Matsumura JS
Circ Res 2019 Feb 15;124(4):631-646. doi: 10.1161/CIRCRESAHA.118.312439. PMID: 30763216Free PMC Article
Long-term implications of emergency versus elective proximal aortic surgery in patients with Marfan syndrome in the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium Registry.
Song HK, Kindem M, Bavaria JE, Dietz HC, Milewicz DM, Devereux RB, Eagle KA, Maslen CL, Kroner BL, Pyeritz RE, Holmes KW, Weinsaft JW, Menashe V, Ravekes W, LeMaire SA; Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium
J Thorac Cardiovasc Surg 2012 Feb;143(2):282-6. Epub 2011 Nov 20 doi: 10.1016/j.jtcvs.2011.10.024. PMID: 22104675Free PMC Article
Rate of paraplegia and mortality in elective descending and thoracoabdominal aortic repair in the modern surgical era.
Misfeld M, Sievers HH, Hadlak M, Gorski A, Hanke T
Thorac Cardiovasc Surg 2008 Sep;56(6):342-7. doi: 10.1055/s-2008-1038704. PMID: 18704856
Minimal-access aortic and valvular operations, including the "J/j" incision.
Svensson LG, D'Agostino RS
Ann Thorac Surg 1998 Aug;66(2):431-5. doi: 10.1016/s0003-4975(98)00462-7. PMID: 9725380

Prognosis

Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies.
de Rinaldis CP, Butensky A, Patel S, Edman S, Wasserman M, McGinn DE, Bailey A, Zackai EH, Crowley TB, McDonald-McGinn DM, Min J, Goldmuntz E
Pediatr Cardiol 2021 Oct;42(7):1594-1600. Epub 2021 Jun 14 doi: 10.1007/s00246-021-02645-7. PMID: 34128123
Oxidative stress in genetically triggered thoracic aortic aneurysm: role in pathogenesis and therapeutic opportunities.
Portelli SS, Hambly BD, Jeremy RW, Robertson EN
Redox Rep 2021 Dec;26(1):45-52. doi: 10.1080/13510002.2021.1899473. PMID: 33715602Free PMC Article
Pharmacologic Management of Aneurysms.
Lindeman JH, Matsumura JS
Circ Res 2019 Feb 15;124(4):631-646. doi: 10.1161/CIRCRESAHA.118.312439. PMID: 30763216Free PMC Article
Molecular analysis for diagnosis of Marfan syndrome and Marfan-associated disorders.
Gao LG, Yao XP, Zhang L, Hui RT, Zhou XL
Chin Med J (Engl) 2011 Mar;124(6):930-4. PMID: 21518605
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C
Eur J Hum Genet 2009 Sep;17(9):1121-8. Epub 2009 Mar 18 doi: 10.1038/ejhg.2009.36. PMID: 19293843Free PMC Article

Clinical prediction guides

Oxidative stress in genetically triggered thoracic aortic aneurysm: role in pathogenesis and therapeutic opportunities.
Portelli SS, Hambly BD, Jeremy RW, Robertson EN
Redox Rep 2021 Dec;26(1):45-52. doi: 10.1080/13510002.2021.1899473. PMID: 33715602Free PMC Article
Pharmacologic Management of Aneurysms.
Lindeman JH, Matsumura JS
Circ Res 2019 Feb 15;124(4):631-646. doi: 10.1161/CIRCRESAHA.118.312439. PMID: 30763216Free PMC Article
Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.
Groth KA, Von Kodolitsch Y, Kutsche K, Gaustadnes M, Thorsen K, Andersen NH, Gravholt CH
Genet Med 2017 Jul;19(7):772-777. Epub 2016 Dec 1 doi: 10.1038/gim.2016.181. PMID: 27906200
Nonsyndromic Thoracic Aortic Aneurysm and Dissection: Outcomes With Marfan Syndrome Versus Bicuspid Aortic Valve Aneurysm.
Sherrah AG, Andvik S, van der Linde D, Davies L, Bannon PG, Padang R, Vallely MP, Wilson MK, Keech AC, Jeremy RW
J Am Coll Cardiol 2016 Feb 16;67(6):618-626. doi: 10.1016/j.jacc.2015.11.039. PMID: 26868685
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C
Eur J Hum Genet 2009 Sep;17(9):1121-8. Epub 2009 Mar 18 doi: 10.1038/ejhg.2009.36. PMID: 19293843Free PMC Article

Recent systematic reviews

Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis.
Rozas MF, Benavides F, León L, Repetto GM
Orphanet J Rare Dis 2019 Aug 9;14(1):195. doi: 10.1186/s13023-019-1170-x. PMID: 31399107Free PMC Article

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