{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10"],"submitter":["Zheng Y"],"pubmed_abstract":["<b>Background:</b> Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant disorder characterized by CMs, often in association with fast-flow vascular malformations. Alagille syndrome is an autosomal dominant multisystem disorder, usually involving hepatic, cardiac, ophthalmic, skeletal, or renal dysplasia. The combination of CM-AVM and Alagille syndrome in a patient presenting serious vascular malformations in the liver and heart has never been reported. Here, we report the case of a 20-month-old infant presenting these two diseases. <b>Case presentation:</b> The patient manifested port-wine stains, congenital heart disease, cholestasis with abnormal morphology, and vascular anomalies. Color Doppler (B-mode) ultrasonography, and radiological imaging including computed tomography (CT) with enhanced three-dimensional (3D) reconstruction and angiography, revealed a type II Abernethy malformation in the hepatic portal vein. The left hepatic lobe was enlarged showing dilation of the portal vein and the left artery. Whole exome sequencing (WES) identified a paternally inherited <i>RASA1</i> heterozygous pathogenic variant p.(Ser219Ter) causing CM-AVM and a <i>de novo NOTCH2</i> heterozygous variant p.(Met2042Thr) associated with Alagille syndrome. <b>Conclusion:</b> This is the first case of combined CM-AVM and Alagille syndrome presenting serious liver and heart abnormalities diagnosed using imaging technology and WES. The patient harbored variants in two genes: <i>RASA1</i> and <i>NOTCH2</i>, which rarely contribute to aberrant vascular development. This report highlights the value of accurately diagnosing similar diseases and guiding therapy using genetic testing combined with careful clinical examinations."],"journal":["Frontiers in genetics"],"pagination":["1088"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6848451"],"repository":["biostudies-literature"],"pubmed_title":["Capillary Malformation-Arteriovenous Malformation Combined Alagille Syndrome in a Patient With Double Gene Variations of <i>RASA1</i> and <i>NOTCH2</i>."],"pmcid":["PMC6848451"],"pubmed_authors":["Peng Y","Zheng Y","Yin Q","Zhang S","Li L"],"additional_accession":[]},"is_claimable":false,"name":"Capillary Malformation-Arteriovenous Malformation Combined Alagille Syndrome in a Patient With Double Gene Variations of <i>RASA1</i> and <i>NOTCH2</i>.","description":"<b>Background:</b> Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant disorder characterized by CMs, often in association with fast-flow vascular malformations. Alagille syndrome is an autosomal dominant multisystem disorder, usually involving hepatic, cardiac, ophthalmic, skeletal, or renal dysplasia. The combination of CM-AVM and Alagille syndrome in a patient presenting serious vascular malformations in the liver and heart has never been reported. Here, we report the case of a 20-month-old infant presenting these two diseases. <b>Case presentation:</b> The patient manifested port-wine stains, congenital heart disease, cholestasis with abnormal morphology, and vascular anomalies. Color Doppler (B-mode) ultrasonography, and radiological imaging including computed tomography (CT) with enhanced three-dimensional (3D) reconstruction and angiography, revealed a type II Abernethy malformation in the hepatic portal vein. The left hepatic lobe was enlarged showing dilation of the portal vein and the left artery. Whole exome sequencing (WES) identified a paternally inherited <i>RASA1</i> heterozygous pathogenic variant p.(Ser219Ter) causing CM-AVM and a <i>de novo NOTCH2</i> heterozygous variant p.(Met2042Thr) associated with Alagille syndrome. <b>Conclusion:</b> This is the first case of combined CM-AVM and Alagille syndrome presenting serious liver and heart abnormalities diagnosed using imaging technology and WES. The patient harbored variants in two genes: <i>RASA1</i> and <i>NOTCH2</i>, which rarely contribute to aberrant vascular development. This report highlights the value of accurately diagnosing similar diseases and guiding therapy using genetic testing combined with careful clinical examinations.","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019","modification":"2024-11-13T00:29:45.303Z","creation":"2020-05-21T20:10:12Z"},"accession":"S-EPMC6848451","cross_references":{"pubmed":["31749841"],"doi":["10.3389/fgene.2019.01088"]}}