{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zaidi AH"],"funding":["Ansley's Heart Endowment Fund","Ansley's Heart Endowment Fund","Christina Capozzi Memorial Foundation","T.J. Reynolds Endowment Fund"],"pagination":["128"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7916466"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["8(2)"],"pubmed_abstract":["Pulmonary vein stenosis (PVS) is a rare, frequently lethal disease with heterogeneous phenotypes and an unclear etiology. Limited studies have reported associations between PVS and congenital heart disease (CHD), chronic lung disease (CLD), and/or prematurity; however, to date, there have been no studies that report detailed clinical syndromic phenotypes and the potential role of genetics in PVS. An existing registry of multivessel PVS patients seen at Boston Children's Hospital (BCH) was queried between August 2006 and January 2017 for all existing genetic testing data on these patients. PVS was defined as an intraluminal pulmonary venous obstruction in ≥2 vessels with mean pressure gradients > 4 mmHg. One-hundred-and-fifty-seven patients (46% female, with a median age at PVS diagnosis of"],"journal":["Children (Basel, Switzerland)"],"pubmed_title":["Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis."],"pmcid":["PMC7916466"],"funding_grant_id":["Grant number N/A"],"pubmed_authors":["Zaidi AH","Chen MH","Miller DT","Gauvreau K","Roberts AE","McEnaney K","Yamada JM","Ireland C","Jenkins KJ"],"additional_accession":[]},"is_claimable":false,"name":"Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis.","description":"Pulmonary vein stenosis (PVS) is a rare, frequently lethal disease with heterogeneous phenotypes and an unclear etiology. Limited studies have reported associations between PVS and congenital heart disease (CHD), chronic lung disease (CLD), and/or prematurity; however, to date, there have been no studies that report detailed clinical syndromic phenotypes and the potential role of genetics in PVS. An existing registry of multivessel PVS patients seen at Boston Children's Hospital (BCH) was queried between August 2006 and January 2017 for all existing genetic testing data on these patients. PVS was defined as an intraluminal pulmonary venous obstruction in ≥2 vessels with mean pressure gradients > 4 mmHg. One-hundred-and-fifty-seven patients (46% female, with a median age at PVS diagnosis of","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Feb","modification":"2026-05-03T01:31:32.365Z","creation":"2021-03-03T08:10:19Z"},"accession":"S-EPMC7916466","cross_references":{"pubmed":["33578785"],"doi":["10.3390/children8020128"]}}