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

• Published in: European journal of medical research Vol. 29; no. 1; p. 209
• Main Authors: Tang, Mi, Luo, Jun, Liu, Qingqing, Song, Jie
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 01.04.2024; BioMed Central; BMC
• Subjects: Adult; Analysis; BMPR2; Bone Morphogenetic Protein Receptors, Type II - genetics; Bone Morphogenetic Protein Receptors, Type II - metabolism; Bone morphogenetic proteins; Cardiac catheterization; CT imaging; Cytoplasmic tail; Disease; Dyspnea; Ethylenediaminetetraacetic acid; Familial Primary Pulmonary Hypertension - genetics; Female; Genetic aspects; Genetic variation; Health aspects; Heart; Heart diseases; Hemodynamics; Humans; Intubation; Kinases; Mutation; Phenotype; Pulmonary arterial hypertension; Pulmonary Arterial Hypertension - genetics; Pulmonary arteries; Pulmonary hypertension; Straight back syndrome; Treprostinil; Veins & arteries; Pulmonary arterial hypertension; BMPR2; Straight back syndrome; Genetic variation; Cytoplasmic tail
• ISSN: 2047-783X; 0949-2321; 2047-783X
• DOI: 10.1186/s40001-024-01810-x

Pathologic 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. 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. This 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.