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Family history of Marfan syndrome

MedGen UID:
873017
•Concept ID:
C4040152
•
Finding
Synonym: Family History of Marfan Syndrome
SNOMED CT: Family history of Marfan syndrome (64181000119106)

Definition

A history of a first-degree relative with Marfan syndrome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamily history of Marfan syndrome

Professional guidelines

PubMed

Pre-implantation genetic testing for Marfan syndrome using mini-sequencing.
Piyamongkol S, Makonkawkeyoon K, Shotelersuk V, Sreshthaputra O, Pantasri T, Sittiwangkul R, Tongsong T, Piyamongkol W
J Obstet Gynaecol 2022 Oct;42(7):2846-2852. Epub 2022 Aug 16 doi: 10.1080/01443615.2022.2109957. PMID: 35972748

Recent clinical studies

Etiology

HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN.
Caruana M, Baars MJ, Bashiardes E, Benke K, Björck E, Codreanu A, de Moya Rubio E, Dumfarth J, Evangelista A, Groenink M, Kallenbach K, Kempers M, Keravnou A, Loeys B, Muiño-Mosquera L, Nagy E, Milleron O, Nistri S, Pepe G, Roos-Hesselink J, Szabolcs Z, Teixidó-Tura G, Timmermans J, Van de Laar I, van Kimmenade R, Verstraeten A, Von Kodolitsch Y, De Backer J, Jondeau G
Eur J Med Genet 2023 Jan;66(1):104673. Epub 2022 Nov 29 doi: 10.1016/j.ejmg.2022.104673. PMID: 36460281
Aortopathy in pregnancy.
Curtis SL, Swan L
Heart 2022 Nov 10;108(23):1851-1857. doi: 10.1136/heartjnl-2021-319828. PMID: 35144984
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
Aorta pathology and pregnancy.
van Hagen IM, Roos-Hesselink JW
Best Pract Res Clin Obstet Gynaecol 2014 May;28(4):537-50. Epub 2014 Mar 27 doi: 10.1016/j.bpobgyn.2014.03.007. PMID: 24726851
The revised Ghent nosology for the Marfan syndrome.
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM
J Med Genet 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. PMID: 20591885

Diagnosis

HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN.
Caruana M, Baars MJ, Bashiardes E, Benke K, Björck E, Codreanu A, de Moya Rubio E, Dumfarth J, Evangelista A, Groenink M, Kallenbach K, Kempers M, Keravnou A, Loeys B, Muiño-Mosquera L, Nagy E, Milleron O, Nistri S, Pepe G, Roos-Hesselink J, Szabolcs Z, Teixidó-Tura G, Timmermans J, Van de Laar I, van Kimmenade R, Verstraeten A, Von Kodolitsch Y, De Backer J, Jondeau G
Eur J Med Genet 2023 Jan;66(1):104673. Epub 2022 Nov 29 doi: 10.1016/j.ejmg.2022.104673. PMID: 36460281
Aortopathy in pregnancy.
Curtis SL, Swan L
Heart 2022 Nov 10;108(23):1851-1857. doi: 10.1136/heartjnl-2021-319828. PMID: 35144984
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
Marfan's syndrome: an overview.
Yuan SM, Jing H
Sao Paulo Med J 2010 Dec;128(6):360-6. doi: 10.1590/s1516-31802010000600009. PMID: 21308160Free PMC Article
The revised Ghent nosology for the Marfan syndrome.
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM
J Med Genet 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. PMID: 20591885

Therapy

Intracranial Aneurysms in Patients with Marfan Syndrome: A Multicenter Propensity-Matched Analysis.
Domingo RA, Perez-Vega C, Tripathi S, Santos JM, Ramos-Fresnedo A, Erben YM, Freeman WD, Sandhu SS, Huynh T, Williams L, Bendok BR, Brinjikji W, Tawk RG, Fox WC
World Neurosurg 2021 Nov;155:e345-e352. Epub 2021 Aug 21 doi: 10.1016/j.wneu.2021.08.065. PMID: 34425290
Recent Clinical Drug Trials Evidence in Marfan Syndrome and Clinical Implications.
Singh MN, Lacro RV
Can J Cardiol 2016 Jan;32(1):66-77. Epub 2015 Nov 10 doi: 10.1016/j.cjca.2015.11.003. PMID: 26724512
Marfan's syndrome and the heart.
Stuart AG, Williams A
Arch Dis Child 2007 Apr;92(4):351-6. doi: 10.1136/adc.2006.097469. PMID: 17376944Free PMC Article
Epidemiology of intracranial aneurysm and subarachnoid hemorrhage.
Pfohman M, Criddle LM
J Neurosci Nurs 2001 Feb;33(1):39-41. doi: 10.1097/01376517-200102000-00005. PMID: 11233360
Marfan syndrome--current medical and genetic knowledge: how to treat and when.
Child AH
J Card Surg 1997 Mar-Apr;12(2 Suppl):131-5; discussion 135-6. PMID: 9271736

Prognosis

Echogenomics: Echocardiography in Heritable Aortopathies.
Hunter-Adamson L, Tierney S
Curr Cardiol Rep 2024 Mar;26(3):179-189. Epub 2024 Feb 19 doi: 10.1007/s11886-024-02024-7. PMID: 38372858
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
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
Marfan syndrome.
Jain E, Pandey RK
BMJ Case Rep 2013 Dec 11;2013 doi: 10.1136/bcr-2013-201632. PMID: 24336584Free PMC Article
Marfan syndrome.
Gonzales EA
J Am Acad Nurse Pract 2009 Dec;21(12):663-70. doi: 10.1111/j.1745-7599.2009.00461.x. PMID: 19958417

Clinical prediction guides

HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN.
Caruana M, Baars MJ, Bashiardes E, Benke K, Björck E, Codreanu A, de Moya Rubio E, Dumfarth J, Evangelista A, Groenink M, Kallenbach K, Kempers M, Keravnou A, Loeys B, Muiño-Mosquera L, Nagy E, Milleron O, Nistri S, Pepe G, Roos-Hesselink J, Szabolcs Z, Teixidó-Tura G, Timmermans J, Van de Laar I, van Kimmenade R, Verstraeten A, Von Kodolitsch Y, De Backer J, Jondeau G
Eur J Med Genet 2023 Jan;66(1):104673. Epub 2022 Nov 29 doi: 10.1016/j.ejmg.2022.104673. PMID: 36460281
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
Recent Clinical Drug Trials Evidence in Marfan Syndrome and Clinical Implications.
Singh MN, Lacro RV
Can J Cardiol 2016 Jan;32(1):66-77. Epub 2015 Nov 10 doi: 10.1016/j.cjca.2015.11.003. PMID: 26724512
Pectus excavatum and carinatum.
Cobben JM, Oostra RJ, van Dijk FS
Eur J Med Genet 2014 Aug;57(8):414-7. Epub 2014 May 10 doi: 10.1016/j.ejmg.2014.04.017. PMID: 24821303
The revised Ghent nosology for the Marfan syndrome.
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM
J Med Genet 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. PMID: 20591885

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