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The etiology of HLHS remains elusive, but there is increasing evidence to support a genetic cause for HLHS; in particular, this syndrome is associated with abnormalities in genes involved in cardiac development. Consistent with the involvement of heritable genes in structural heart abnormalities, family members of HLHS patients have a higher incidence of both left- and right-sided valve abnormalities, including bicuspid aortic valve (BAV).<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>We previously described (Am J Med Genet A 173:1848\u20131857, 2017) a 4-generation family with a 6q25.1 microdeletion encompassing<jats:italic>TAB2<\/jats:italic>, a gene known to play an important role in outflow tract and cardiac valve formation during embryonic development. Affected adult family members have short stature, dysmorphic facial features, and multiple valve dysplasia, including BAV. This follow-up report includes previously unpublished details of the cardiac phenotype of affected family members. It also\u00a0describes a baby recently born into this family who was diagnosed prenatally with short long bones, intrauterine growth restriction (IUGR), and HLHS. He was the second family\u00a0member to have HLHS; the first died several decades ago. Postnatal genetic testing confirmed the baby had inherited the familial<jats:italic>TAB2<\/jats:italic>deletion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings suggest<jats:italic>TAB2<\/jats:italic>haploinsufficiency is a risk factor for HLHS and expands the phenotypic spectrum of this microdeletion syndrome. Chromosomal single nucleotide polymorphism (SNP) microarray analysis and molecular testing for a<jats:italic>TAB2<\/jats:italic>loss of function variant should be considered for individuals with HLHS, particularly in those with additional non-cardiac findings such as IUGR, short stature, and\/or dysmorphic facial features.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s12872-020-01404-5","type":"journal-article","created":{"date-parts":[[2020,3,17]],"date-time":"2020-03-17T09:03:41Z","timestamp":1584435821000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype"],"prefix":"10.1186","volume":"20","author":[{"given":"Andrew","family":"Cheng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Whitney","family":"Neufeld-Kaiser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter H.","family":"Byers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yajuan J.","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,3,17]]},"reference":[{"key":"1404_CR1","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/j.jpeds.2016.02.052","volume":"173","author":"DW Benson","year":"2016","unstructured":"Benson DW, Martin LJ, Lo CW. 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