Vein of Galen Aneurysmal Malformation Associated With an Endoglin Gene Mutation

Autor:	Masaki Shintani, Yoshiyuki Tsutsumi, Shunsuke Nosaka, Yushi Itoh, Rumiko Matsuoka, Keiko Tsukamoto, Rika Kosaki, Hidekazu Masaki, Yuo Iizuka
Rok vydání:	2011
Předmět:	Male Pathology medicine.medical_specialty Time Factors medicine.medical_treatment Receptors Cell Surface Risk Assessment Pathogenesis Antigens CD hemic and lymphatic diseases otorhinolaryngologic diseases Humans Medicine Endoglin Gene Genetic Predisposition to Disease Embolization Family history Vein Telangiectasia business.industry Endoglin Infant Newborn Intracranial Aneurysm Cerebral Veins Embolization Therapeutic Cerebral Angiography Treatment Outcome medicine.anatomical_structure Mutation Vein of Galen Malformations Pediatrics Perinatology and Child Health Mutation (genetic algorithm) medicine.symptom business Magnetic Resonance Angiography Follow-Up Studies
Zdroj:	Pediatrics. 128:e1307-e1310
ISSN:	1098-4275 0031-4005
DOI:	10.1542/peds.2010-0961
Popis:	A child with vein of Galen aneurysmal malformation (VGAM) presented with cardiac failure in the neonatal period. The family history revealed his mother to have hereditary hemorrhagic telangiectasia. The child underwent an endoglin genetic analysis after the newborn period, which eventually demonstrated an endoglin mutation. The pathogenesis of VGAM is currently unknown. The findings of this case suggest that an endoglin mutation might be linked with VGAM.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec7d05fd03e2c79607765382dc5fc815 https://doi.org/10.1542/peds.2010-0961 Zobrazit plný text záznamu