Prenatal Clinical Findings in RASA1 -Related Capillary Malformation-Arteriovenous Malformation Syndrome

Pathogenic variants in are typically associated with a clinical condition called "capillary malformation-arteriovenous malformation" (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variability, even within families. In CM-AVM syndrome, multifoca...

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Published in:Genes 2023-02, Vol.14 (3), p.549
Main Authors: Coccia, Emanuele, Valeri, Lara, Zuntini, Roberta, Caraffi, Stefano Giuseppe, Peluso, Francesca, Pagliai, Luca, Vezzani, Antonietta, Pietrangiolillo, Zaira, Leo, Francesco, Melli, Nives, Fiorini, Valentina, Greco, Andrea, Lepri, Francesca Romana, Pisaneschi, Elisa, Marozza, Annabella, Carli, Diana, Mussa, Alessandro, Radio, Francesca Clementina, Conti, Beatrice, Iascone, Maria, Gargano, Giancarlo, Novelli, Antonio, Tartaglia, Marco, Zuffardi, Orsetta, Bedeschi, Maria Francesca, Garavelli, Livia
Format: Article
Language:English
Subjects:
Arteriovenous Malformations - diagnostic imaging
Arteriovenous Malformations - genetics
Central nervous system
Child
Edema
Female
Genes
Genetic disorders
Genetic variability
Genomes
GTPase-Activating Proteins - genetics
Humans
Hydrops fetalis
Infant, Newborn
Kinases
Leukocytes
Mutation
Neonates
Ostomy
p120 GTPase Activating Protein - genetics
Pediatrics
Port-Wine Stain - diagnosis
Port-Wine Stain - genetics
Port-Wine Stain - pathology
Pregnancy
Proteins
Signal transduction
Software
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Summary:Pathogenic variants in are typically associated with a clinical condition called "capillary malformation-arteriovenous malformation" (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variability, even within families. In CM-AVM syndrome, multifocal capillary and arteriovenous malformations are mainly localized in the central nervous system, spine and skin. Although CM-AVM syndrome has been widely described in the literature, only 21 cases with prenatal onset of clinical features have been reported thus far. Here, we report four pediatric cases of molecularly confirmed CM-AVM syndrome which manifested during the prenatal period. Polyhydramnios, non-immune hydrops fetalis and chylothorax are only a few possible aspects of this condition, but a correct interpretation of these prenatal signs is essential due to the possible fatal consequences of unrecognized encephalic and thoracoabdominal deep vascular malformations in newborns and in family members carrying the same variant.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes14030549