A Hipertensão Arterial Pulmonar Hereditária (HPAH) é um tipo de Hipertensão Arterial Pulmonar (HAP) que acontece por causa de alterações (mutações) em genes que predispõem à HAP, ou quando há casos na família. A HPAH se caracteriza por uma resistência alta nas artérias dos pulmões, o que leva à falha do lado direito do coração. É uma doença progressiva e que pode ser fatal.
Introdução
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A Hipertensão Arterial Pulmonar Hereditária (HPAH) é um tipo de Hipertensão Arterial Pulmonar (HAP) que acontece por causa de alterações (mutações) em genes que predispõem à HAP, ou quando há casos na família. A HPAH se caracteriza por uma resistência alta nas artérias dos pulmões, o que leva à falha do lado direito do coração. É uma doença progressiva e que pode ser fatal.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 12 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 39 características clínicas mais associadas, ordenadas por frequência.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
12 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Essential for embryonic development (By similarity)
CytoplasmCell membrane
Pulmonary hypertension, primary, 6
A form of primary pulmonary hypertension, a disease defined by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. Primary pulmonary hypertension exhibits incomplete penetrance, sex bias and variable age of onset, both within and between families. PPH6 is an autosomal recessive form.
On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Can also mediate signaling through the activation of the p38MAPK cascade (PubMed:12045205). Binds to BMP7, BMP2 and, less efficiently, BMP4. Binding is weak but enhanced by the presence of type I receptors for BMPs. Mediates inducti
Cell membrane
Pulmonary hypertension, primary, 1
A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.
ATP-driven pump involved in endocytosis-dependent polyamine transport. Uses ATP as an energy source to transfer polyamine precursor putrescine from the endosomal compartment to the cytosol
Recycling endosome membraneEarly endosome membraneLate endosome membrane
Pulmonary hypertension, primary, 5
A form of primary pulmonary hypertension, a disease defined by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. Primary pulmonary hypertension exhibits incomplete penetrance, sex bias and variable age of onset, both within and between families. PPH5 is an autosomal recessive form characterized by the onset in infancy. Death in early childhood is common.
Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG
Secreted
Telangiectasia, hereditary hemorrhagic, 5
A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.
K(+) channel that conducts voltage-dependent outward rectifying currents upon membrane depolarization. Voltage sensing is coupled to K(+) electrochemical gradient in an 'ion flux gating' mode where outward but not inward ion flow opens the gate (PubMed:23169818, PubMed:26919430, PubMed:32499642, PubMed:36195757, PubMed:9312005). Changes ion selectivity and becomes permeable to Na(+) ions in response to extracellular acidification. Protonation of the pH sensor His-98 stabilizes C-type inactivatio
Cell membrane
Pulmonary hypertension, primary, 4
A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.
Acts as a transcription regulator that binds target promoter DNA (PubMed:33952808). Binds to the sequences 5'-AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal development of the definitive gut endoderm. Required for normal looping of the embryonic heart tube. Plays an important role in embryonic and postnatal vascular develo
Nucleus
Vesicoureteral reflux 3
A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease.
May act as a scaffolding protein within caveolar membranes (PubMed:11751885). Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae (PubMed:19262564). Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its bind
Golgi apparatus membraneCell membraneMembrane, caveolaMembrane raftGolgi apparatus, trans-Golgi networkCytoplasm
Lipodystrophy, congenital generalized, 3
A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and diabetes mellitus. CGL3 inheritance is autosomal recessive.
Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to low amino acid availability (PubMed:25329545, PubMed:32610081). Plays a role as an activator of the integrated stress response (ISR) required for adaptation to amino acid starvation (By similarity). EIF2S1/eIF-2-alpha phosphorylation in response to stress converts EIF2S1/eIF-2-alpha into a global protein synthesis inhibitor, leading to a
Cytoplasm
Pulmonary venoocclusive disease 2, autosomal recessive
A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension.
Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD)
CytoplasmNucleus
Pulmonary hypertension, primary, 2
A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.
Transcriptional regulator that has an essential role in the organogenesis of lungs, pelvis, and hindlimbs
Nucleus
Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension
An autosomal dominant bone disease characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami.
Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and est
Cell membrane
Telangiectasia, hereditary hemorrhagic, 1
A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.
Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well
Cell membrane
Telangiectasia, hereditary hemorrhagic, 2
A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain.
Variantes genéticas (ClinVar)
741 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
47 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Hipertensão arterial pulmonar hereditária
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Publicações mais relevantes
ANCA-associated vasculitis following sotatercept initiation in a patient with heritable pulmonary arterial hypertension and previously silent eosinophilic granulomatosis with polyangiitis: a case report.
Pulmonary arterial hypertension (PAH) is a progressive disease characterized by increased pulmonary vascular resistance and right ventricular failure. Sotatercept, a novel activin receptor ligand trap, has demonstrated promising haemodynamic benefits in PAH treatment. Eosinophilic granulomatosis with polyangiitis (EGPA) is an extremely rare, Th2-driven, small-vessel vasculitis, and its overlap with PAH is scarcely reported. We report the case of a woman with heritable PAH initially stabilized with oral therapy. In 2024, after further clinical decline, subcutaneous treprostinil was initiated. Subsequently, sotatercept was added, resulting in brief clinical improvement. Within weeks, however, the patient developed severe eosinophilia and exhibited laboratory and histopathological evidence of p-ANCA-positive necrotizing vasculitis, accompanied by renal and hepatocellular dysfunction. This case suggests that sotatercept's modulation of the TGF-β pathway may unmask latent autoimmune diseases such as EGPA in predisposed individuals. Although the temporal relationship between sotatercept initiation and the onset of vasculitis is compelling, both causality and underlying molecular mechanisms remain to be elucidated. Further studies are necessary to understand the potential immunomodulatory mechanisms of sotatercept.
Generation of 5 hiPSC lines from pediatric patients with Heritable pulmonary arterial hypertension (HPAH) caused by heterozygous mutations in the TBX4 gene.
Heritable pulmonary arterial hypertension (HPAH) and underlying pulmonary vascular disease (PVD) are often caused by TBX4 mutations-either loss- or gain-of-function-which are a leading cause of childhood-onset PAH. The clinically heterogeneous TBX4 syndrome can include skeletal anomalies (e.g., small patella syndrome) and developmental lung disease (DEVLD) (Galambos, 2019). TBX4 is expressed in lung mesenchymal cells such as matrix fibroblasts, pericytes, and smooth muscle cells, all contributing to PAH pathogenesis (Karolak, 2023; Maldonado, 2025). Our five patient-derived TBX4-mutant hiPSC lines provide a powerful model to investigate cell-specific mechanisms in HPAH/DEVLD-PH and support precision drug discovery and therapy development targeting TBX4-related abnormalities.
BMPR2 Splice-Site Variant in a Patient With Pulmonary Arteriovenous Malformation and Delayed-Onset Pulmonary Arterial Hypertension: A Case Report and Mechanistic Phenocopy Hypothesis.
Pulmonary arteriovenous malformations (PAVMs) are rare vascular anomalies most commonly seen in hereditary hemorrhagic telangiectasia (HHT), a condition associated with mutations in ENG, ACVRL1, SMAD4, or GDF2. In contrast, BMPR2 variants are well-established in heritable pulmonary arterial hypertension (PAH), but their relationship to PAVMs remains poorly understood. We report the case of a 41-year-old woman with an incidentally discovered PAVM, initially treated with embolization and subsequent surgical resection. She remained asymptomatic for several years until progressive exertional dyspnea led to a diagnosis of severe precapillary PAH. Genetic testing identified a heterozygous BMPR2 splice-site variant (c.967 + 5G>A), previously reported in a PAH cohort but currently classified as a variant of uncertain significance. This report is notable for the delayed evolution from isolated PAVM to PAH in the context of a BMPR2 variant, raising the possibility of a mechanistic link outside the canonical HHT pathway. We review published reports of BMPR2-associated PAVMs, some of which include subtle HHT-like features, such as mucocutaneous telangiectases and epistaxis, despite negative testing for classical HHT genes. These observations suggest a potential phenocopy vascular syndrome driven by disruption of the shared bone morphogenetic protein 9 (BMP9)-ALK1 signaling axis. We also discuss the implications of sotatercept, a transforming growth factor-beta (TGF-β) superfamily ligand trap, which in this case was associated with symptomatic improvement and stable shunt burden. These findings contribute to the emerging recognition of atypical vascular phenotypes in BMPR2 variant carriers, particularly those presenting with PAVMs in the absence of HHT. It highlights the importance of considering genetic testing in isolated AVM presentations, as well as the need for longitudinal surveillance and mechanistic investigation into overlapping TGF-β/BMP signaling disorders.
A Large Animal Model of Heritable Pulmonary Arterial Hypertension Using Gene-edited BMPR2 Sheep.
Pulmonary Arterial Hypertension (PAH) is a rare vascular disorder characterized by elevated pressure in pulmonary arteries, eventually leading to right ventricular failure. Approximately 50% of pediatric disease and 20% of adult disease can be linked to a genetic mutation, with nearly 70% of these cases involving mutations in the bone morphogenetic protein receptor type 2 (BMPR2) locus. Investigations using rodent models have made significant advances in our understanding of BMPR2 signaling; however, limited data exist regarding the onset and course of PAH, and etiologies for phenotypic expression in these patients remain unknown. In this work, we describe the development of a novel ovine model of heritable PAH. Because homozygous disruption of BMPR2 is embryonic lethal, we developed heterozygous BMPR2 sheep by using a PAM-disrupting synonymous single stranded oligodeoxyribonucleotide alongside a single guide RNA and Cas9 mediated gene editing strategy. The resulting BMPR2 (+/-) lambs demonstrated cardiac and pulmonary vascular pathology that are consistent with BMPR2 mutation-driven PAH observed in humans. Given the genetic and physiological similarities of BMPR2 (+/-) sheep to humans with heritable PAH, this large animal model will serve as a vital platform for mechanistic molecular studies and will provide a much-needed pre-clinical model for extensive treatment evaluations.
Heritable pulmonary arterial hypertension: new genetic findings and environmental triggers.
Our goal was to identify new environmental or genetic causes in heritable pulmonary arterial hypertension (HPAH) families outside the 18 known diagnostics PAH genes. PAH gene panel sequencing was performed for 47 HPAH families which revealed pathogenic variants in 39 families. Five of the remaining families agreed to whole exome sequencing and to fill in a drug and toxin exposure questionnaire. In Family 1 and 2, mother and daughter with HPAH carried a likely pathogenic variant in the CYBA gene and a variant of uncertain significance in the FKBP1A gene, respectively, following ACMG guidelines. In Family 3, we detected a likely pathogenic variant in the PTGR2 gene. These genes could play part in PAH pathogenesis but further functional analyses are required to corroborate these findings. In the remaining two families, we could not identify any plausible genetic cause. However, a father and son with PAH reported exposure to trichloroethylene, asbestos and tramadol in Family 4. In Family 5, two brothers with pulmonary veno-occlusive disease showed occupational toxin exposure. Thus, our findings indicate that not only a genetic predisposition but also environmental triggers should be investigated for HPAH patients.
Publicações recentes
Heritable Pulmonary Arterial Hypertension Overview.
Clinical Utility of Stroke Volume Index in Children with Idiopathic and Heritable Pulmonary Arterial Hypertension.
BMPR2 Splice-Site Variant in a Patient With Pulmonary Arteriovenous Malformation and Delayed-Onset Pulmonary Arterial Hypertension: A Case Report and Mechanistic Phenocopy Hypothesis.
A Large Animal Model of Heritable Pulmonary Arterial Hypertension Using Gene-edited BMPR2 Sheep.
ANCA-associated vasculitis following sotatercept initiation in a patient with heritable pulmonary arterial hypertension and previously silent eosinophilic granulomatosis with polyangiitis: a case report.
📚 EuropePMC78 artigos no totalmostrando 126
BMPR2 Splice-Site Variant in a Patient With Pulmonary Arteriovenous Malformation and Delayed-Onset Pulmonary Arterial Hypertension: A Case Report and Mechanistic Phenocopy Hypothesis.
American journal of medical genetics. Part AA Large Animal Model of Heritable Pulmonary Arterial Hypertension Using Gene-edited BMPR2 Sheep.
bioRxiv : the preprint server for biologyANCA-associated vasculitis following sotatercept initiation in a patient with heritable pulmonary arterial hypertension and previously silent eosinophilic granulomatosis with polyangiitis: a case report.
European heart journal. Case reportsHeritable pulmonary arterial hypertension: new genetic findings and environmental triggers.
Scientific reportsGeneration of 5 hiPSC lines from pediatric patients with Heritable pulmonary arterial hypertension (HPAH) caused by heterozygous mutations in the TBX4 gene.
Stem cell researchUnmasking Cancer Risk in Heritable PAH: The Hidden Role of BMPR2 in Epithelial Tumorigenesis.
JACC. Case reportsChallenges in accurately assessing acute vasoreactivity in paediatric pulmonary arterial hypertension: case reports highlighting the impact of sedation on diagnostic accuracy.
European heart journal. Case reportsA 2-Decade Cardiac Magnetic Resonance Imaging Journey in Heritable Pulmonary Arterial Hypertension: Reversal With Sotatercept.
JACC. Case reportsMacitentan in Children with Pulmonary Arterial Hypertension: A Multicenter Experience.
Pediatric cardiologyThe genetic epidemiology and genotype-phenotype correlations among Chinese children with idiopathic and heritable pulmonary arterial hypertension.
Respiratory researchReduced pulmonary arterial compliance predicts poor short-term outcome in children with pulmonary arterial hypertension independent of pulmonary vascular resistance.
Frontiers in cardiovascular medicineNavigating family dynamics and ethical considerations in genetic diagnosis of pulmonary arterial hypertension: insights from in-depth semi-structured interviews.
ERJ open researchHaemodynamic spectrum in heritable pulmonary arterial hypertension: a continuum from pre-capillary to combined pulmonary hypertension-case series.
European heart journal. Case reportsConsistent Safety and Efficacy of Sotatercept for Pulmonary Arterial Hypertension in BMPR2 Mutation Carriers and Noncarriers: A Planned Analysis of a Phase II, Double-Blind, Placebo-controlled Clinical Trial (PULSAR).
American journal of respiratory and critical care medicineIneffectiveness of Sotatercept Therapy in a Patient With Heritable Pulmonary Arterial Hypertension Associated With a Previously Unreported Missense Variant in GDF2, the Gene for Bone Morphogenic Protein-9.
ChestSex-Specific Genetic Determinants of Right Ventricular Structure and Function.
American journal of respiratory and critical care medicineDeep phenotyping of unaffected carriers of pathogenic BMPR2 variants screened for pulmonary arterial hypertension.
The European respiratory journalPulmonary Hypertension Induced by Right Pulmonary Artery Occlusion: Hemodynamic Consequences of Bmpr2 Mutation.
Journal of the American Heart Association[Heritable pulmonary arterial hypertension].
Innere Medizin (Heidelberg, Germany)Early identification of SOX17 deficiency in infants to guide management of heritable pulmonary arterial hypertension using PDA stent to create reverse Potts shunt physiology.
Pulmonary circulationCoexistence of pulmonary arterial hypertension and straight back syndrome in a patient with a novel BMPR2 variant affecting cytoplasmic tail domain.
European journal of medical researchHeritable Pulmonary Arterial Hypertension in a Patient With Empty Sella Syndrome: A Case Report.
CureusHeritable pulmonary arterial hypertension in rats with spontaneous systemic hypertension.
Revista espanola de cardiologia (English ed.)Hemodynamic and Clinical Profiles of Pulmonary Arterial Hypertension Patients with GDF2 and BMPR2 Variants.
International journal of molecular sciencesBMPR2 mutation and clinical response to imatinib in a case of heritable pulmonary arterial hypertension.
Pulmonary circulationLong Term Survival of Heritable Pulmonary Arterial Hypertension Associated with Hereditary Hemorrhagic Telangiectasia: A Case Series.
Journal of clinical medicineComputed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children.
Pediatric radiology[A case of heritable pulmonary arterial hypertension treated with long-term oral low-dose imatinib].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesPulmonary hypertension associated with diazoxide: the SUR1 paradox.
ERJ open researchTreprostinil Effectiveness in Higher-Risk Pediatric Patients With Idiopathic and Heritable Pulmonary Arterial Hypertension.
The Canadian journal of cardiologyHeritable Pulmonary Arterial Hypertension Diagnosed during the Postpartum Period: A Case Report and Literature Review.
Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidirThe cascade screening in heritable forms of pulmonary arterial hypertension.
Pulmonary circulationIs iron deficiency caused by BMPR2 mutations or dysfunction in pulmonary arterial hypertension patients?
Pulmonary circulationDifferential biventricular adaption to pulmonary vascular disease in patients with idiopathic/heritable and congenital heart disease: a prospective cardiac magnetic resonance and invasive study.
European heart journal. Cardiovascular ImagingPrognostic Value for Mortality of Plasma Bioactive Adrenomedullin in Patients with Pulmonary Arterial Hypertension: A Sub Analysis of the Biomarker Study in the COHARD-PH Registry.
Medicina (Kaunas, Lithuania)Isolated Pulmonary Arteriovenous Malformations Associated With BMPR2 Pathogenic Variants.
ChestA cluster of heritable pulmonary arterial hypertension cases in a family with all three siblings carrying the same novel AQP1 c.273C>G variant-a case report.
Pulmonary circulationClinical phenotyping of plasma thrombospondin-2 reveals relationship to right ventricular structure and function in pulmonary hypertension.
ERJ open researchHigher circulating Trimethylamine N-oxide levels are associated with worse severity and prognosis in pulmonary hypertension: a cohort study.
Respiratory researchClinical differences between children and adults with idiopathic and heritable pulmonary arterial hypertension.
Cardiology in the youngA pilot study to examine association of BMI with functional class and 6 min walk distance in idiopathic and heritable PAH: Possible association with estrogen metabolism.
Pulmonary circulationSafety of chronic high-dose calcium channel blockers exposure in children with pulmonary arterial hypertension.
Frontiers in cardiovascular medicineReversible Cardiac Hypertrophy in Pulmonary Arterial Hypertension Treated With High-Dose Epoprostenol.
CJC openClinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry.
International journal of molecular sciencesCaveolin-1 associated with severe (pediatric-onset) presentation of pulmonary arterial hypertension.
Pulmonary circulationWhole Exome Sequencing of Patients With Heritable and Idiopathic Pulmonary Arterial Hypertension in Central Taiwan.
Frontiers in cardiovascular medicinePrognostic impact of follow-up pulmonary vascular resistance in pulmonary arterial hypertension.
Open heartReduction of BMPR2 mRNA Expression in Peripheral Blood of Pulmonary Arterial Hypertension Patients: A Marker for Disease Severity?
GenesProspective clinical assessment of patients with pulmonary arterial hypertension switched from bosentan to macitentan (POTENT).
Pulmonary circulationAn adult case of NOTCH3 mutation in pulmonary artery hypertension.
Pulmonary circulationClinical efficacy and safety of selexipag in children and young adults with idiopathic and heritable pulmonary arterial hypertension.
Cardiology in the youngPulmonary arterial hypertension in hereditary hemorrhagic telangiectasia associated with ACVRL1 mutation: a case report.
Journal of medical case reportsPediatric pulmonary veno-occlusive disease associated with a novel BMPR2 variant.
Pediatric pulmonologyGene Mutation Annotation and Pedigree for Pulmonary Arterial Hypertension Patients in Han Chinese Patients.
Global heartHemodynamic and prognostic impact of the diastolic pulmonary arterial pressure in children with pulmonary arterial hypertension-a registry-based analysis.
Cardiovascular diagnosis and therapy＜Editors' Choice＞ Differential effects of combination therapy on the components of the risk stratification table in patients with idiopathic or heritable pulmonary arterial hypertension in a Japanese population.
Nagoya journal of medical scienceSex Dimorphism in Pulmonary Hypertension: The Role of the Sex Chromosomes.
Antioxidants (Basel, Switzerland)Supplementation with Iron in Pulmonary Arterial Hypertension. Two Randomized Crossover Trials.
Annals of the American Thoracic SocietyHeritable pulmonary arterial hypertension complicated by multiple pulmonary arteriovenous malformations.
Respiratory medicine case reportsScreening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation.
The European respiratory journalPlasma levels of apelin are reduced in patients with liver fibrosis and cirrhosis but are not correlated with circulating levels of bone morphogenetic protein 9 and 10.
PeptidesExpression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension.
GenesBMPR2 Promoter Variants Effect Gene Expression in Pulmonary Arterial Hypertension Patients.
GenesExpression of a Human Caveolin-1 Mutation in Mice Drives Inflammatory and Metabolic Defect-Associated Pulmonary Arterial Hypertension.
Frontiers in medicinePHorecasting Heritable Pulmonary Arterial Hypertension: Are We Nearly There Yet?
American journal of respiratory and critical care medicineTargeting transforming growth factor-β receptors in pulmonary hypertension.
The European respiratory journalA novel BMPR2 mutation in a patient with heritable pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia: A case report.
MedicineKnockdown of bone morphogenetic protein type II receptor leads to decreased aquaporin 1 expression and function in human pulmonary microvascular endothelial cells.
Canadian journal of physiology and pharmacologyA novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype.
Pulmonary circulationHereditary haemorrhagic telangiectasia with heritable pulmonary arterial hypertension.
European heart journalWhole-Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome.
American journal of respiratory and critical care medicineGenetics of pulmonary hypertension and high-altitude pulmonary edema.
Journal of applied physiology (Bethesda, Md. : 1985)Clinical efficacy and safety of switch from bosentan to macitentan in children and young adults with pulmonary arterial hypertension: extended study results.
Cardiology in the young4PBA Restores Signaling of a Cysteine-substituted Mutant BMPR2 Receptor Found in Patients with Pulmonary Arterial Hypertension.
American journal of respiratory cell and molecular biologyGenotypes and Phenotypes of Chinese Pediatric Patients With Idiopathic and Heritable Pulmonary Arterial Hypertension-A Single-Center Study.
The Canadian journal of cardiologyGenetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension.
Journal of medical geneticsA Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension.
Scientific reportsIdiopathic, heritable and veno-occlusive pulmonary arterial hypertension in childhood: computed tomography angiography features in the initial assessment of the disease.
Pediatric radiologyA pediatric case of Ortner`s syndrome caused by heritable pulmonary arterial hypertension and review of the literature.
The Turkish journal of pediatricsBmpr2 Mutant Rats Develop Pulmonary and Cardiac Characteristics of Pulmonary Arterial Hypertension.
CirculationCharacterization and regulation of wild-type and mutant TASK-1 two pore domain potassium channels indicated in pulmonary arterial hypertension.
The Journal of physiologyPulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia.
International journal of molecular sciencesClinical Effects of Syncope on Disease Severity and Adverse Outcomes in Children with Idiopathic and Heritable Pulmonary Arterial Hypertension.
Pediatric cardiologyFactors Associated with Heritable Pulmonary Arterial Hypertension Exert Convergent Actions on the miR-130/301-Vascular Matrix Feedback Loop.
International journal of molecular sciencesClinical phenotypes and outcomes of pulmonary hypertension due to left heart disease: Role of the pre-capillary component.
PloS oneIdentification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Nature communicationsClinical prediction score for identifying patients with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis.
Journal of cardiologyHypoxemia in patients with idiopathic or heritable pulmonary arterial hypertension.
PloS oneBilaterally dilated episcleral vessels in patients with heritable pulmonary arterial hypertension.
Journal of general and family medicineClinical efficacy and safety of switch from bosentan to macitentan in children and young adults with pulmonary arterial hypertension.
Cardiology in the youngPulmonary Veno-Occlusive Disease: Welcome to the PAHty (Bostonian for Party).
CirculationClinical Impact of Main Pulmonary Artery Dilatation on Outcome in Pediatric Idiopathic and Heritable Pulmonary Arterial Hypertension.
Circulation journal : official journal of the Japanese Circulation SocietyHeritable pulmonary hypertension: from bench to bedside.
European respiratory review : an official journal of the European Respiratory SocietyPulmonary Hypertension in a Large Cohort with Hereditary Hemorrhagic Telangiectasia.
Respiration; international review of thoracic diseasesGenetics of pulmonary hypertension in the clinic.
Current opinion in pulmonary medicineLeft main coronary artery compression by a dilated main pulmonary artery and left coronary sinus of Valsalva aneurysm in a patient with heritable pulmonary arterial hypertension and FLNA mutation.
Pulmonary circulationPlasma proteome analysis in patients with pulmonary arterial hypertension: an observational cohort study.
The Lancet. Respiratory medicineAberrant caveolin-1-mediated Smad signaling and proliferation identified by analysis of adenine 474 deletion mutation (c.474delA) in patient fibroblasts: a new perspective on the mechanism of pulmonary hypertension.
Molecular biology of the cellImprovement of pulmonary arterial hypertension following medication and shunt closure in a BMPR2 mutation carrier with atrial septal defect.
Journal of cardiology casesPulmonary arterial capacitance index is a strong predictor for adverse outcome in children with idiopathic and heritable pulmonary arterial hypertension: methodological issues to avoid misinterpretation.
The Journal of pediatricsAberrant Caveolin-1-Mediated Smad Signaling and Proliferation Identified by Analysis of Adenine 474 Deletion Mutation (c.474delA) in Patient Fibroblasts: A New Perspective in the Mechanism of Pulmonary Hypertension.
Molecular biology of the cellTadalafil in idiopathic or heritable pulmonary arterial hypertension (PAH) compared to PAH associated with connective tissue disease.
International journal of cardiologySurvival of Japanese Patients With Idiopathic/Heritable Pulmonary Arterial Hypertension.
The American journal of cardiologyFirst identification of Krüppel-like factor 2 mutation in heritable pulmonary arterial hypertension.
Clinical science (London, England : 1979)Hypermethylation of BMPR2 Promoter Occurs in Patients with Heritable Pulmonary Arterial Hypertension and Inhibits BMPR2 Expression.
American journal of respiratory and critical care medicinePulmonary hypertension and ventilation during exercise: Role of the pre-capillary component.
The Journal of heart and lung transplantation : the official publication of the International Society for Heart TransplantationGenotype-phenotype effects of Bmpr2 mutations on disease severity in mouse models of pulmonary hypertension.
Pulmonary circulationTNFα drives pulmonary arterial hypertension by suppressing the BMP type-II receptor and altering NOTCH signalling.
Nature communicationsEIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension.
ChestBMPRII influences the response of pulmonary microvascular endothelial cells to inflammatory mediators.
Pflugers Archiv : European journal of physiologyPulmonary Arterial Capacitance Index Is a Strong Predictor for Adverse Outcome in Children with Idiopathic and Heritable Pulmonary Arterial Hypertension.
The Journal of pediatricsSafety, Tolerability and Clinical Effects of a Rapid Dose Titration of Subcutaneous Treprostinil Therapy in Pulmonary Arterial Hypertension: A Prospective Multi-Centre Trial.
Respiration; international review of thoracic diseasesInduced Pluripotent Stem Cell Model of Pulmonary Arterial Hypertension Reveals Novel Gene Expression and Patient Specificity.
American journal of respiratory and critical care medicinePregnancy as a possible trigger for heritable pulmonary arterial hypertension.
Pulmonary circulationFrom bone morphogenic protein receptor II mutations to heritable pulmonary arterial hypertension-the long and winding road.
The Journal of heart and lung transplantation : the official publication of the International Society for Heart TransplantationElevated levels of plasma transforming growth factor-β1 in idiopathic and heritable pulmonary arterial hypertension.
International journal of cardiologyMechanisms of Lipid Accumulation in the Bone Morphogenetic Protein Receptor Type 2 Mutant Right Ventricle.
American journal of respiratory and critical care medicineRapid and high-dose titration of epoprostenol improves pulmonary hemodynamics and clinical outcomes in patients with idiopathic and heritable pulmonary arterial hypertension.
Journal of cardiologyElevated Levels of Circulating Bone Morphogenetic Protein 7 Predict Mortality in Pulmonary Arterial Hypertension.
ChestCritical Genomic Networks and Vasoreactive Variants in Idiopathic Pulmonary Arterial Hypertension.
American journal of respiratory and critical care medicinePotassium Channel Subfamily K Member 3 (KCNK3) Contributes to the Development of Pulmonary Arterial Hypertension.
CirculationSerotonin 2B Receptor Antagonism Prevents Heritable Pulmonary Arterial Hypertension.
PloS oneBone morphogenetic protein receptor type II deficiency and increased inflammatory cytokine production. A gateway to pulmonary arterial hypertension.
American journal of respiratory and critical care medicineCombining bosentan and sildenafil in pulmonary arterial hypertension patients failing monotherapy: real-world insights.
The European respiratory journalDe novo mutations in the BMPR2 gene in patients with heritable pulmonary arterial hypertension.
Annals of human geneticsCardiac catheterization in children with pulmonary hypertensive vascular disease.
Pediatric cardiologyAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- ANCA-associated vasculitis following sotatercept initiation in a patient with heritable pulmonary arterial hypertension and previously silent eosinophilic granulomatosis with polyangiitis: a case report.
- Generation of 5 hiPSC lines from pediatric patients with Heritable pulmonary arterial hypertension (HPAH) caused by heterozygous mutations in the TBX4 gene.
- BMPR2 Splice-Site Variant in a Patient With Pulmonary Arteriovenous Malformation and Delayed-Onset Pulmonary Arterial Hypertension: A Case Report and Mechanistic Phenocopy Hypothesis.
- A Large Animal Model of Heritable Pulmonary Arterial Hypertension Using Gene-edited BMPR2 Sheep.
- Heritable pulmonary arterial hypertension: new genetic findings and environmental triggers.
- Heritable Pulmonary Arterial Hypertension Overview.
- Clinical Utility of Stroke Volume Index in Children with Idiopathic and Heritable Pulmonary Arterial Hypertension.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:275777(Orphanet)
- MONDO:0017148(MONDO)
- Hipertensao Arterial Pulmonar(PCDT · Ministério da Saúde)
- GARD:11914(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55786871(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
