A new case report suggests that a novel BMPR2 gene mutation may be associated with pulmonary arterial hypertension (PAH) and pulmonary arteriovenous malformations (PAVMs). The report is published in Acta Cardiologica Sinica.

The patient’s physicians employed simultaneous PAVM occlusion and targeted-PAH treatment, with good results.

“We discovered a new BMPR2 variant (c.1165 G->A, p.Glu389Lys) located in the hot-spot regions where most of the known pathogenic gene mutations were identified,” the authors wrote. “The aberrant genetic sequencing of BMPR2, as a missense mutation, was predicted to be ‘likely pathogenic’ according to 2015 American College of Medical Genetics & Genomics standards & guidance.”

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“We, herein, speculated that this BMPR2 mutation may be another causal mutation related to PAH and PAVMs,” they added.

Read more about PAH etiology

The case involved a 70-year-old woman diagnosed with pulmonary hypertension (PH) and PAVMs. Genetic testing revealed a heterozygous BMPR2 mutation with a single nucleotide substitution (G->A transversion) at nucleotide position 1165, which converted a glutamic acid into a lysine residue (c.1165 G->A, p.Glu389Lys). Her niece carried the same mutation. The patient’s condition deteriorated despite initial improvement after a diuretic agent was administered.

The team decided to treat her with simultaneous PAVM occlusion by vascular plug along with PAH-specific medication, with a consequent increase in pulmonary arterial pressure. Sildenafil was later added, and after 6 months her symptoms improved and her hemodynamics stabilized. Furthermore, her cardiopulmonary exercise test and oxygen consumption improved.

In this case, the patient had conflicting hemodynamic consequences of the treatment. Therefore the authors recommend careful and individualized decision-making for each patient, and genetic counseling should be considered for patients with little response to treatment or a family history of PAH.


Chuang MM, Wu SH, Charng MJ, et al. A novel BMPR2 variant gene in relation with hereditary pulmonary arterial hypertension combined with pulmonary arteriovenous malformations. Acta Cardiol Sin. 2022;38(4):542-545. doi: 10.6515/ACS.202207_38(4).20220210A