Evidence map›Paper›PMID 38561801›Full record

ArticleEuropean journal of medical research2024

Coexistence of pulmonary arterial hypertension and straight back syndrome in a patient with a novel BMPR2 variant affecting cytoplasmic tail domain.

Mi Tang, Jun Luo, Qingqing Liu, Jie Song

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PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of medical research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
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0citing papers in PubMed
–field-weighted citation impact, top 93% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 2 institutions in 1 country.

Mi TangDepartment of Cardiovascular Surgery, The Second Xiangya Hospital, Central South University, No. 139 Ren-Min Road, Changsha, 410011, China.
Jun LuoDepartment of Cardiovascular medicine, The Second Xiangya Hospital, Central South University, No. 139 Ren-Min Road, Changsha, 410011, China.
Qingqing LiuDepartment of Respiratory and Critical Care, The Second Xiangya Hospital, Central South University, No. 139 Ren-Min Road, Changsha, 410011, China.
Jie SongDepartment of Cardiovascular medicine, The Second Xiangya Hospital, Central South University, No. 139 Ren-Min Road, Changsha, 410011, China. jie.song@csu.edu.cn.
Central South University · CNSecond Xiangya Hospital of Central South University · CN

Funding

Hunan Provincial Natural Science Foundation No. 2020JJ5831Hunan Provincial Natural Science Foundation No. 2022JJ30840National Natural Science Foundation of China No. 81900052
6 · The paper itself

Abstract

backgroundPathologic variants in the bone morphogenetic protein receptor-2 (BMPR2) gene cause a pulmonary arterial hypertension phenotype in an autosomal-dominant pattern with incomplete penetrance. 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. CASE PRESENTATION: 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 BMPR2 affecting the cytoplasmic tail domain.

conclusionsThis is the first report of different straight back characteristics in heritable pulmonary arterial hypertension with a novel germline BMPR2 variant. This finding may provide a new perspective on the variable penetrance of the pulmonary arterial hypertension phenotype.

Indexed as

Pulmonary Arterial HypertensionAdultBone Morphogenetic Protein Receptors, Type IIFamilial Primary Pulmonary HypertensionFemaleHumansMutationPhenotypeBMPR2 protein, humanBone Morphogenetic Protein Receptors, Type IIBMPR2Cytoplasmic tailGenetic variationPulmonary arterial hypertensionStraight back syndrome

Identifiers

PMID38561801
PMCPMC10983711
OpenAlexW4393392709

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.