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Table 13 Phenotypic features associated with pulmonary arterial hypertension mutations Gene Pulmonary hypertension

phenotypic association Putative

molecular mechanism

Inheritance

pattern Potential distinguishing

clinical and examination features

Investigations Populations Reference

BMPR2 Heritable and idiopathic PAH Haploinsufficiency Autosomal

dominant No specific or diagnostic clinical

features described No discriminative investigations described Paediatric and adult 152

ATP13A3 Unknown Autosomal

dominant Adult 149 AQP1 Unknown Autosomal

dominant Adult 149 ABCC8 Haploinsufficiency Autosomal

dominant Adult 153 KCNK3 Haploinsufficiency Autosomal

dominant Adult 154 SMAD9 Haploinsufficiency Autosomal

dominant Adult 155

Sox17 Heritable and idiopathic PAH

Congenital heart disease Unknown Autosomal

dominant Paediatric and adult 149

CAV1 Heritable and idiopathic PAH

Lipodystrophy Gain of function;

dominant negative Autosomal

dominant Deficiency of subcutaneous

adipose tissue Fasting triglyceride and leptin levels Paediatric and adult 156

TBX4 Heritable and idiopathic PAH Small patella syndrome (ischiopatellar dysplasia) Parenchymal lung disease Bronchopulmonary dysplasia Persistent pulmonary hypertension of the neonate

Unknown Autosomal

dominant Patellar aplasia

Skeletal abnormalities, particularly pelvis, knees, and feet

Skeletal X-rays: pelvis, knees, and feet

CT chest: diffuse parenchymal lung disease Paediatric and (less

commonly) adult

149,157

EIF2AK4 Pulmonary veno-occlusive disease/pulmonary capillary haemangiomatosis

Loss of function Autosomal

recessive Distal phalangeal clubbing Reduced DLCO

CT chest: interlobular septal thickening and mediastinal lymphadenopathy, and centrilobular ground-glass nodular opacities

Adult 158

KDR Heritable and idiopathic PAH Loss of function Autosomal

dominant No specific or diagnostic clinical

features described Possible reduced DLCO Older-onset adult 159

ENG Heritable and idiopathic PAH Hereditary haemorrhagic telangiectasia

Unknown Autosomal

dominant Telangiectasia

Abnormal blood vessel formation Visceral arteriovenous malformations Bleeding diathesis

Iron-deficiency anaemia Presence on imaging of pulmonary, hepatic, cerebral, or spinal arteriovenous malformations Invasive endoscopic assessment of gastrointestinal telangiectasia

Adult and paediatric 160

ACVRL1 Haploinsufficiency Autosomal

dominant Adult and paediatric 160 GDF2 Haploinsufficiency Autosomal

dominant Adult and paediatric 149 CT, computed tomography; DLCO, Lung diffusion capacity for carbon monoxide; PAH, pulmonary arterial hypertension. Downloaded from academic.oup.com/eurheartj/article/43/38/3618/6673929 by guest on 07 October 2026