Genes, Vol. 14, Pages 549: Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome

Genes, Vol. 14, Pages 549: Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome

Genes doi: 10.3390/genes14030549

Authors: Emanuele Coccia Lara Valeri Roberta Zuntini Stefano Giuseppe Caraffi Francesca Peluso Luca Pagliai Antonietta Vezzani Zaira Pietrangiolillo Francesco Leo Nives Melli Valentina Fiorini Andrea Greco Francesca Romana Lepri Elisa Pisaneschi Annabella Marozza Diana Carli Alessandro Mussa Francesca Clementina Radio Beatrice Conti Maria Iascone Giancarlo Gargano Antonio Novelli Marco Tartaglia Orsetta Zuffardi Maria Francesca Bedeschi Livia Garavelli

Pathogenic variants in RASA1 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 RASA1 variant.