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Straight back syndrome is one of the causes of pseudo-heart diseases. To date, no cases of idiopathic or heritable pulmonary arterial hypertension with straight back syndrome have been reported.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 30-year-old female was diagnosed with pulmonary arterial hypertension by right heart catheterization. Computed tomography revealed a decreased anteroposterior thoracic space with heart compression, indicating a straight back syndrome. Genetic analysis by whole exome sequencing identified a novel c.2423_2424delGT (p.G808Gfs*4) germline frameshift variant within <jats:italic>BMPR2<\/jats:italic> affecting the cytoplasmic tail domain.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This is the first report of different straight back characteristics in heritable pulmonary arterial hypertension with a novel germline <jats:italic>BMPR2<\/jats:italic> variant. This finding may provide a new perspective on the variable penetrance of the pulmonary arterial hypertension phenotype.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s40001-024-01810-x","type":"journal-article","created":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T09:13:44Z","timestamp":1711962824000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Coexistence of pulmonary arterial hypertension and straight back syndrome in a patient with a novel BMPR2 variant affecting cytoplasmic tail domain"],"prefix":"10.1186","volume":"29","author":[{"given":"Mi","family":"Tang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qingqing","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Song","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,4,1]]},"reference":[{"issue":"38","key":"1810_CR1","doi-asserted-by":"publisher","first-page":"3618","DOI":"10.1093\/eurheartj\/ehac237","volume":"43","author":"M Humbert","year":"2022","unstructured":"Humbert M, Kovacs G, Hoeper MM, et al. 2022 ESC\/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension. 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