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A Neonatal Case with a Prenatal Diagnosis of Capillary Malformation-arteriovenous Malformation Syndrome (CM-AVM)

Received: 28 June 2021     Accepted: 23 July 2021     Published: 9 August 2021
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Abstract

Capillary malformation arteriovenous malformation syndrome (CV-AVM) is marked by the appearance of vascular lesions on the skin, frequently found on the face and limbs. The main genetic defect in this syndrome is a mutation in the RASA-1 gene transmitted in an autosomal dominant manner. Besides, this syndrome is characterized by a wide intra- and interfamilial variability in clinical manifestations. In fact, little is known about prenatally diagnosed cases of CV-AVM. Here, we report the case of a 25 year-old woman admitted during her third pregnancy for management of unexplained polyhydramnios. Prenatal genetic analysis (Mendeliom sequencing from amniotic fluid), performed due to two previous unexplained fetal losses, showed a mutation in a heterozygous state in RASA-1 gene c.2367 C>T (p.Arg789*). Hence, an antenatal diagnosis of CV AVM was then made. An emergency cesarean section was performed at 31 5/7 weeks due to complications of the second amnioreduction. At birth, the neonate presented five erythematous lesions with diameters of 1-3 cm, similarly to those found on the father. No signs of arteriovenous malformations was detected on MRI of the brain and spine. No other anomaly has been found. Despite its autosomal mode of transmission, CV-AVM is still underrecognized due to its variable clinical presentation. Our report underlines that CM-AVM should be considered at the first clinical examination of a neonate revealing atypical capillary malformations especially in the context of unexplained polyhydramnios, previous fetal losses, or family history of clinical presentation of CM. When genetic diagnose is made a follow-up should be organized during the period of early childhood.

Published in American Journal of Pediatrics (Volume 7, Issue 3)
DOI 10.11648/j.ajp.20210703.20
Page(s) 145-149
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2021. Published by Science Publishing Group

Keywords

Capillary Malformations, Arteriovenous Malformation, Arteriovenous Fistulas, RASA1, EPHB4

References
[1] Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S et al. Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations. Am J Hum Genet. 2003 Dec; 73 (6): 1240–9.
[2] Cai R, Liu F, Liu Y, Chen H LX. RASA-1 somatic “second hit” mutation in capillary malformation-arteriovenous malformation. J Dermatol. 2018 Dec; 45 (12): 1478-1480.
[3] Behr GG, Liberman L, Compton J, Garzon MC, Morel KD, Lauren CT et al. CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy. Vasc Cell. 2012; 4 (1): 19.
[4] Bayrak-Toydemir P SD. Capillary Malformation-Arteriovenous Malformation Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Mirzaa G, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. Available from: http://www.ncbi.
[5] Boito S, Crovetto F, Ischia B, Crippa BL, Fabietti I, Bedeschi MF et al. Prenatal ultrasound factors and genetic disorders in pregnancies complicated by polyhydramnios. Prenat Diagn. 2016 Aug; 36 (8): 726-30.
[6] Tur-Torres MH, Garrido-Gimenez C A-RJ. Genetics of recurrent miscarriage and fetal loss. Best Pract Res Clin Obstet Gynaecol. 2017 Jul; 42: 11-25.
[7] Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE et al. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat. 2008 Jul 1; 29 (7): 959–65.
[8] Orme CM, Boyden LM, Choate KA, Antaya RJ KB. Capillary Malformation—Arteriovenous Malformation Syndrome: Review of the Literature, Proposed Diagnostic Criteria, and Recommendations for Management. Pediatr Dermatol. 2013 Jul 1; 30 (4): 409–15.
[9] Henkemeyer M, Rossi DJ, Holmyard DP, Puri MC, Mbamalu G, Harpal K et al. Vascular system defects and neuronal apoptosis in mice lacking Ras GTPase-activating protein. Nature. 1995 Oct; 377 (6551): 695–701.
[10] Gourier G, Audebert-Bellanger S, Vourc’h P, Fraitag S, L’Hérondelle K, Labouche A et al. Multiple capillary malformations of progressive onset: Capillary malformation–arteriovenous malformation syndrome (CM-AVM). Ann Dermatol Vénéréologie. 2018 Aug; 145 (8–9): 486–91.
[11] Lacalm A, Fichez A, Broussin B, Abel C, Lacombe D GL. Prenatal diagnosis of cerebral and extracerebral high-flow lesions revealing familial capillary malformation-arteriovenous malformation (CM-AVM) syndrome. Ultrasound Obstet Gynecol. 2018 Mar 1; 51 (3): 409–11.
[12] Amyere Mustapha, Revencu Nicole, Helaers Raphaël, Pairet Eleonore, Baselga Eulalia, Cordisco Maria et al. Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. Circulation. 2017 Sep 12; 136 (11): 1037–48.
[13] Valdivielso-Ramos M, Martin-Santiago A, Azaña JM, Hernández-Nuñez A, Vera A PB. Capillary malformation-arteriovenous malformation syndrome: a multicentre study. Clin Exp Dermatol. 2021 Mar; 46 (2): 300-305.
[14] Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P et al. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat. 2013 Dec; 34 (12): 1632-41.
[15] Coste K, Sarret C, Cisse A, Delabaere A, Francannet C VP. Le syndrome macrocéphalie – malformation capillaire. Intérêt du diagnostic en période néonatale. Arch Pédiatrie. 2012 Sep; 19 (9): 917–20.
[16] Weitz NA, Lauren CT, Behr GG, Wu JK, Kandel JJ, Meyers PM et al. Clinical Spectrum of Capillary Malformation–Arteriovenous Malformation Syndrome Presenting to a Pediatric Dermatology Practice: A Retrospective Study. Pediatr Dermatol. 2015 Jan 1; 32 (1): 76–84.
Cite This Article
  • APA Style

    Somia Errazaki, Martina Marangoni, Guillaume Smits, Boris Lubicz, Dorottya Kelen. (2021). A Neonatal Case with a Prenatal Diagnosis of Capillary Malformation-arteriovenous Malformation Syndrome (CM-AVM). American Journal of Pediatrics, 7(3), 145-149. https://doi.org/10.11648/j.ajp.20210703.20

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    ACS Style

    Somia Errazaki; Martina Marangoni; Guillaume Smits; Boris Lubicz; Dorottya Kelen. A Neonatal Case with a Prenatal Diagnosis of Capillary Malformation-arteriovenous Malformation Syndrome (CM-AVM). Am. J. Pediatr. 2021, 7(3), 145-149. doi: 10.11648/j.ajp.20210703.20

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    AMA Style

    Somia Errazaki, Martina Marangoni, Guillaume Smits, Boris Lubicz, Dorottya Kelen. A Neonatal Case with a Prenatal Diagnosis of Capillary Malformation-arteriovenous Malformation Syndrome (CM-AVM). Am J Pediatr. 2021;7(3):145-149. doi: 10.11648/j.ajp.20210703.20

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  • @article{10.11648/j.ajp.20210703.20,
      author = {Somia Errazaki and Martina Marangoni and Guillaume Smits and Boris Lubicz and Dorottya Kelen},
      title = {A Neonatal Case with a Prenatal Diagnosis of Capillary Malformation-arteriovenous Malformation Syndrome (CM-AVM)},
      journal = {American Journal of Pediatrics},
      volume = {7},
      number = {3},
      pages = {145-149},
      doi = {10.11648/j.ajp.20210703.20},
      url = {https://doi.org/10.11648/j.ajp.20210703.20},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20210703.20},
      abstract = {Capillary malformation arteriovenous malformation syndrome (CV-AVM) is marked by the appearance of vascular lesions on the skin, frequently found on the face and limbs. The main genetic defect in this syndrome is a mutation in the RASA-1 gene transmitted in an autosomal dominant manner. Besides, this syndrome is characterized by a wide intra- and interfamilial variability in clinical manifestations. In fact, little is known about prenatally diagnosed cases of CV-AVM. Here, we report the case of a 25 year-old woman admitted during her third pregnancy for management of unexplained polyhydramnios. Prenatal genetic analysis (Mendeliom sequencing from amniotic fluid), performed due to two previous unexplained fetal losses, showed a mutation in a heterozygous state in RASA-1 gene c.2367 C>T (p.Arg789*). Hence, an antenatal diagnosis of CV AVM was then made. An emergency cesarean section was performed at 31 5/7 weeks due to complications of the second amnioreduction. At birth, the neonate presented five erythematous lesions with diameters of 1-3 cm, similarly to those found on the father. No signs of arteriovenous malformations was detected on MRI of the brain and spine. No other anomaly has been found. Despite its autosomal mode of transmission, CV-AVM is still underrecognized due to its variable clinical presentation. Our report underlines that CM-AVM should be considered at the first clinical examination of a neonate revealing atypical capillary malformations especially in the context of unexplained polyhydramnios, previous fetal losses, or family history of clinical presentation of CM. When genetic diagnose is made a follow-up should be organized during the period of early childhood.},
     year = {2021}
    }
    

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  • TY  - JOUR
    T1  - A Neonatal Case with a Prenatal Diagnosis of Capillary Malformation-arteriovenous Malformation Syndrome (CM-AVM)
    AU  - Somia Errazaki
    AU  - Martina Marangoni
    AU  - Guillaume Smits
    AU  - Boris Lubicz
    AU  - Dorottya Kelen
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    PY  - 2021
    N1  - https://doi.org/10.11648/j.ajp.20210703.20
    DO  - 10.11648/j.ajp.20210703.20
    T2  - American Journal of Pediatrics
    JF  - American Journal of Pediatrics
    JO  - American Journal of Pediatrics
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    EP  - 149
    PB  - Science Publishing Group
    SN  - 2472-0909
    UR  - https://doi.org/10.11648/j.ajp.20210703.20
    AB  - Capillary malformation arteriovenous malformation syndrome (CV-AVM) is marked by the appearance of vascular lesions on the skin, frequently found on the face and limbs. The main genetic defect in this syndrome is a mutation in the RASA-1 gene transmitted in an autosomal dominant manner. Besides, this syndrome is characterized by a wide intra- and interfamilial variability in clinical manifestations. In fact, little is known about prenatally diagnosed cases of CV-AVM. Here, we report the case of a 25 year-old woman admitted during her third pregnancy for management of unexplained polyhydramnios. Prenatal genetic analysis (Mendeliom sequencing from amniotic fluid), performed due to two previous unexplained fetal losses, showed a mutation in a heterozygous state in RASA-1 gene c.2367 C>T (p.Arg789*). Hence, an antenatal diagnosis of CV AVM was then made. An emergency cesarean section was performed at 31 5/7 weeks due to complications of the second amnioreduction. At birth, the neonate presented five erythematous lesions with diameters of 1-3 cm, similarly to those found on the father. No signs of arteriovenous malformations was detected on MRI of the brain and spine. No other anomaly has been found. Despite its autosomal mode of transmission, CV-AVM is still underrecognized due to its variable clinical presentation. Our report underlines that CM-AVM should be considered at the first clinical examination of a neonate revealing atypical capillary malformations especially in the context of unexplained polyhydramnios, previous fetal losses, or family history of clinical presentation of CM. When genetic diagnose is made a follow-up should be organized during the period of early childhood.
    VL  - 7
    IS  - 3
    ER  - 

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Author Information
  • Neonatal Department, Université Libre de Bruxelles, Brussels, Belgium

  • Genetic Department, Université Libre de Bruxelles, Brussels, Belgium

  • Genetic Department, Université Libre de Bruxelles, Brussels, Belgium

  • Interventional-Radiology Department, Université Libre de Bruxelles, Brussels, Belgium

  • Neonatal Department, Université Libre de Bruxelles, Brussels, Belgium

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