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Neonatal Marfan syndrome

MedGen UID:
864491
•Concept ID:
C4016054
•
Disease or Syndrome
Synonym: MARFAN SYNDROME, NEONATAL
SNOMED CT: Neonatal Marfan syndrome (763839005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017309
OMIM®: 134797
Orphanet: ORPHA284979

Definition

A rare severe and life-threatening genetic disease occurring during the neonatal period. The disease has characteristics of classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a ''senile'' facial appearance), flexion joint contractures, pulmonary emphysema and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeonatal Marfan syndrome

Professional guidelines

PubMed

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C
Hum Mutat 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871. PMID: 18781618
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T
Eur J Hum Genet 2001 Jan;9(1):13-21. doi: 10.1038/sj.ejhg.5200582. PMID: 11175294
Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.
Palz M, Tiecke F, Booms P, Göldner B, Rosenberg T, Fuchs J, Skovby F, Schumacher H, Kaufmann UC, von Kodolitsch Y, Nienaber CA, Leitner C, Katzke S, Vetter B, Hagemeier C, Robinson PN
Am J Med Genet 2000 Mar 20;91(3):212-21. doi: 10.1002/(sici)1096-8628(20000320)91:3<212::aid-ajmg12>3.0.co;2-3. PMID: 10756346

Recent clinical studies

Etiology

A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.
Peng Q, Deng Y, Yang Y, Liu H
BMC Pediatr 2016 Apr 30;16:60. doi: 10.1186/s12887-016-0598-6. PMID: 27138491Free PMC Article
Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.
Kirschner R, Hubmacher D, Iyengar G, Kaur J, Fagotto-Kaufmann C, Brömme D, Bartels R, Reinhardt DP
J Biol Chem 2011 Sep 16;286(37):32810-23. Epub 2011 Jul 22 doi: 10.1074/jbc.M111.221804. PMID: 21784848Free PMC Article
Growing rods for infantile scoliosis in Marfan syndrome.
Sponseller PD, Thompson GH, Akbarnia BA, Glait SA, Asher MA, Emans JB, Dietz HC 3rd
Spine (Phila Pa 1976) 2009 Jul 15;34(16):1711-5. doi: 10.1097/BRS.0b013e3181a9ece5. PMID: 19770613
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.
Faivre L, Masurel-Paulet A, Collod-Béroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier B, Huet F, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Halliday DJ, Béroud C, Bonithon-Kopp C, Claustres M, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G
Pediatrics 2009 Jan;123(1):391-8. doi: 10.1542/peds.2008-0703. PMID: 19117906
Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome.
Godfrey M, Raghunath M, Cisler J, Bevins CL, DePaepe A, Di Rocco M, Gregoritch J, Imaizumi K, Kaplan P, Kuroki Y
Am J Pathol 1995 Jun;146(6):1414-21. PMID: 7778680Free PMC Article

Diagnosis

Heart transplantation in neonatal Marfan syndrome: Saving life in a rare and fatal condition.
Laks JA, Lynch A, Honjo O, Grosse-Wortmann L, Chitayat D, Dipchand AI
Pediatr Transplant 2023 Sep;27(6):e14560. Epub 2023 Jun 28 doi: 10.1111/petr.14560. PMID: 37377051
A clinical scoring system for early onset (neonatal) Marfan syndrome.
Zarate YA, Morris SA, Blackshare A, Algaze CA, Connor BS, Kim AJ, Yutzey KE, Miller EM, Weaver KN, Collins RT 2nd
Genet Med 2022 Jul;24(7):1503-1511. Epub 2022 Apr 14 doi: 10.1016/j.gim.2022.03.016. PMID: 35420547
Prenatal diagnosis of Marfan syndrome by fetal echocardiography: A case report and review of cardiovascular manifestations.
Wang X, Sun L, Liu XW, Shang JF, He YH
Echocardiography 2020 Feb;37(2):359-362. Epub 2019 Dec 27 doi: 10.1111/echo.14577. PMID: 31879971
Neonatal Marfan Syndrome.
Tognato E, Perona A, Aronica A, Bertola A, Cimminelli L, De Vecchi S, Eshraghy MR, Loperfido B, Vivenza C, Manzoni P
Am J Perinatol 2019 Jul;36(S 02):S74-S76. Epub 2019 Jun 25 doi: 10.1055/s-0039-1691770. PMID: 31238364
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

Losartan in combination with propranolol slows the aortic root dilatation in neonatal Marfan syndrome.
Liu LH, Lin SM, Lin DS, Chen MR
Pediatr Neonatol 2018 Apr;59(2):211-213. Epub 2017 Jul 31 doi: 10.1016/j.pedneo.2017.07.005. PMID: 28823387
Neonatal Marfan syndrome: Report of two cases.
Jurko T, Jurko A Jr, Minarik M, Micieta V, Tonhajzerova I, Kolarovszka H, Zibolen M
Neuro Endocrinol Lett 2017 Jul;38(3):138-140. PMID: 28759179
Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition.
Elshershari H, Harris C
Cardiol Young 2014 Aug;24(4):735-8. Epub 2013 Aug 9 doi: 10.1017/S1047951113001029. PMID: 23930893
Growing rods for infantile scoliosis in Marfan syndrome.
Sponseller PD, Thompson GH, Akbarnia BA, Glait SA, Asher MA, Emans JB, Dietz HC 3rd
Spine (Phila Pa 1976) 2009 Jul 15;34(16):1711-5. doi: 10.1097/BRS.0b013e3181a9ece5. PMID: 19770613
Surgical correction of mitral valve prolapse : a cure for recurrent ventricular tachycardia in Marfan syndrome?
Beroukhim RS, Reed JH, Schaffer MS, Yetman AT
Pediatr Cardiol 2006 Nov-Dec;27(6):755-8. Epub 2006 Sep 30 doi: 10.1007/s00246-006-1102-0. PMID: 17019535

Prognosis

Heart transplantation in neonatal Marfan syndrome: Saving life in a rare and fatal condition.
Laks JA, Lynch A, Honjo O, Grosse-Wortmann L, Chitayat D, Dipchand AI
Pediatr Transplant 2023 Sep;27(6):e14560. Epub 2023 Jun 28 doi: 10.1111/petr.14560. PMID: 37377051
Neonatal Marfan syndrome with missense variant of c.3706T>C undergoing bilateral atrioventricular valve replacement.
Kawamura J, Ueno K, Kawano Y
Cardiol Young 2022 May;32(5):833-836. Epub 2021 Sep 16 doi: 10.1017/S1047951121003905. PMID: 34526162
Prenatal diagnosis of Marfan syndrome by fetal echocardiography: A case report and review of cardiovascular manifestations.
Wang X, Sun L, Liu XW, Shang JF, He YH
Echocardiography 2020 Feb;37(2):359-362. Epub 2019 Dec 27 doi: 10.1111/echo.14577. PMID: 31879971
Neonatal Marfan Syndrome.
Tognato E, Perona A, Aronica A, Bertola A, Cimminelli L, De Vecchi S, Eshraghy MR, Loperfido B, Vivenza C, Manzoni P
Am J Perinatol 2019 Jul;36(S 02):S74-S76. Epub 2019 Jun 25 doi: 10.1055/s-0039-1691770. PMID: 31238364
Neonatal Marfan syndrome: Report of two cases.
Jurko T, Jurko A Jr, Minarik M, Micieta V, Tonhajzerova I, Kolarovszka H, Zibolen M
Neuro Endocrinol Lett 2017 Jul;38(3):138-140. PMID: 28759179

Clinical prediction guides

A clinical scoring system for early onset (neonatal) Marfan syndrome.
Zarate YA, Morris SA, Blackshare A, Algaze CA, Connor BS, Kim AJ, Yutzey KE, Miller EM, Weaver KN, Collins RT 2nd
Genet Med 2022 Jul;24(7):1503-1511. Epub 2022 Apr 14 doi: 10.1016/j.gim.2022.03.016. PMID: 35420547
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C
Hum Mutat 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871. PMID: 18781618
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
Tiecke F, Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T
Eur J Hum Genet 2001 Jan;9(1):13-21. doi: 10.1038/sj.ejhg.5200582. PMID: 11175294
Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome.
Godfrey M, Raghunath M, Cisler J, Bevins CL, DePaepe A, Di Rocco M, Gregoritch J, Imaizumi K, Kaplan P, Kuroki Y
Am J Pathol 1995 Jun;146(6):1414-21. PMID: 7778680Free PMC Article
Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome.
Wang M, Price C, Han J, Cisler J, Imaizumi K, Van Thienen MN, DePaepe A, Godfrey M
Hum Mol Genet 1995 Apr;4(4):607-13. doi: 10.1093/hmg/4.4.607. PMID: 7633409

Recent systematic reviews

Perinatal diagnosis and management of early-onset Marfan syndrome: case report and systematic review.
Veiga-Fernández A, Joigneau Prieto L, Álvarez T, Ruiz Y, Pérez R, Gámez F, Ortega Abad V, Yllana F, De León-Luis J
J Matern Fetal Neonatal Med 2020 Jul;33(14):2493-2504. Epub 2019 Jan 17 doi: 10.1080/14767058.2018.1552935. PMID: 30652519

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