Genomics Precision Diagnostic > Pulmonology > Pulmonary Artery Hypertension

Pulmonary Artery Hypertension

Pulmonary Artery Hypertension (PAH) is defined as a mean pulmonary arterial pressure greater than 25mmHg at rest or greater than 30mmHg during exercise.

Overview

Pulmonary Artery Hypertension (PAH) is defined as a mean pulmonary arterial pressure greater than 25mmHg at rest or greater than 30mmHg during exercise. It is a rare, progressive disorder typified by occlusion of the pulmonary arteries due to endothelial dysfunction and uncontrolled proliferation of smooth muscle of pulmonary artery and fibroblasts. It is characterized by a progressive and persistent increase in pulmonary vascular resistance that will ultimately exert a strain over the right heart causing right ventricular failure. It is a lethal pulmonary vascular disease if not treated appropriately. There are 5 classifications of PAH according to the World Health Organization based on the similarities in pathophysiology, clinical presentation and therapeutic options. The cohort of genes that has been identified to be related to PAH are germline mutations that are dominantly inherited with a reduced penetrance.
The Igenomix Pulmonary Artery Hypertension Precision Panel can be used as a diagnostic tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes.

Indication

The Igenomix Pulmonary Artery Hypertension Precision Panel is indicated in those cases where there is a clinical suspicion of PAH or presence of an underlying disease entity that may lead to PAH with or without the following manifestations:

Shortness of breath with exertion
Fatigue
Lethargy
Syncope with exertion
Chest pain
Anorexia
Right upper quadrant pain
Cough
Haemoptysis
Hoarseness

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular diagnosis for an accurate clinical diagnosis and improve prognosis.
Early initiation of treatment with a multidisciplinary team in the form supportive therapy, pharmacologic therapy with targeted endothelin receptor antagonists, phosphodiesterase-5 inhibitors or prostacyclin analogues, and/or surgical treatment including lung transplantation.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.

Genes & Diseases

All genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ABCD4*	Methylmalonic Aciduria And Homocystinuria	AR	100	8 of 8
*ACTA2*	Multisystemic Smooth Muscle Dysfunction Syndrome	AD	100	88 of 88
*ACTC1*	Atrial Septal Defect, Left Ventricular Noncompaction, Familial Hypertrophic Cardiomyopathy, Familial Isolated Dilated Cardiomyopathy	AD	99.93	72 of 74
*ACVRL1*	Osler-Rendu-Weber Syndrome	AD	100	457 of 462
*AFF4*	CHOPS Syndrome, Short Stature-Skeletal Dysplasia Syndrome	AD	99.42	6 of 6
*ALMS1*	Alstrom Syndrome	AR	99.92	302 of 305
*ARHGAP31*	Adams-Oliver Syndrome	AD	100	6 of 6
*ATP5F1A*	Combined Oxidative Phosphorylation Deficiency, Mitochondrial Complex V (ATP Synthase) Deficiency	AR	91.8	NA of NA
*BANF1*	Nestor-Guillermo Progeria Syndrome	AR	100	1 of 1
*BMPR2*	Primary Pulmonary Hypertension, Pulmonary Venoocclusive Disease	AD	99.99	590 of 600
*BTNL2*	Sarcoidosis	AD	99.98	1 of 1
*CACNA1D*	Primary Aldosteronism, Seizures, And Neurologic Abnormalities, Sinoatrial Node Dysfunction And Deafness	AD,AR	100	18 of 18
*CAV1*	Primary Pulmonary Hypertension, Diffuse Cutaneous Systemic Sclerosis , Limited Cutaneous Systemic Sclerosis	AD,AR	100	18 of 18
*CCN2*	Diffuse Cutaneous Systemic Sclerosis, Limited Cutaneous Systemic Sclerosis	–	95.83	NA of NA
*CCR6*	Diffuse Cutaneous Systemic Sclerosis, Limited Cutaneous Systemic Sclerosis	–	99.83	NA of NA
*CHST3*	Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, With Or Without Congenital Heart Defects	AR	99.97	38 of 38
*CITED2*	Atrial Septal Defect , Ventricular Septal Defect,Tetralogy Of Fallot	AD	99.22	18 of 24
*CLCN7*	Hypopigmentation, Organomegaly, And Delayed Myelination And Development, Albers-Schonberg Osteopetrosis	AD,AR	99.85	109 of 111
*COG1*	Congenital Disorder Of Glycosylation Type IIg	AR	99.91	3 of 3
*COL1A1*	Caffey Disease , Ehlers-danlos Syndrome Type VII, Arthrochalasia Ehlers-Danlos Syndrome	AD	99.98	1156 of 1159
*COL1A2*	Ehlers-Danlos Syndrome Arthrochalasia Type, Cardiac-Valvular Ehlers-Danlos Syndrome	AD,AR	100	576 of 581
*COLQ*	Synaptic Congenital Myasthenic Syndromes	AR	100	70 of 71
*COX1*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes, Leber Hereditary Optic Neuropathy	MI	na	na
*COX2*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	MI	na	na
*COX3*	Leber Optic Atrophy , Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes , Leber Hereditary Optic Neuropathy	MI	na	na
*COX7B*	Aplasia Cutis Congenita, Reticulolinear, With Microcephaly, Facial Dysmorphism, And Other Congenital Anomalies	X,XD,G	99.97	NA of NA
*CTCF*	Intellectual Disability-Feeding Difficulties-Developmental Delay-Microcephaly Syndrome	AD	96.6	39 of 41
*DLL4*	Adams-Oliver Syndrome	AD	99.98	21 of 21
*DOCK6*	Adams-oliver Syndrome	AR	98.06	37 of 37
*EIF2AK4*	Pulmonary Venoocclusive Disease	AR	99.98	102 of 102
*ENG*	Hereditary Hemorrhagic Telangiectasia, Generalized Juvenile Polyposis/Juvenile Polyposis Coli	AD	100	467 of 471
*EOGT*	Adams-oliver Syndrome	AR	100	11 of 11
*FBN1*	Marfan Lipodystrophy Syndrome, Mass Syndrome, Stiff Skin Syndrome, Weill-Marchesani Syndrome, Neonatal Marfan Syndrome, Shprintzen-Goldberg Syndrome	AD	100	2836 of 2845
*FGFR1*	Hartsfield Syndrome, Jackson-Weiss Syndrome, Pfeiffer Syndrome, Hartsfield Syndrome	AD	100	279 of 280
*FGFR3*	Crouzon Syndrome With Acanthosis Nigricans, Muenke Syndrome, Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome, Crouzon Syndrome-Acanthosis Nigricans Syndrome, Saethre-Chotzen Syndrome	AD,AR	99.89	77 of 78
*FIG4*	Amyotrophic Lateral Sclerosis, Charcot-Marie-Tooth Disease, Yunis-Varon Syndrome	AD,AR	99.92	72 of 72
*FLNA*	Cardiac Valvular Dysplasia, Melnick-Needles Syndrome, X-linked Ehlers-Danlos Syndrome	X,XR,XD,G	100	NA of NA
*FLNC*	Familial Hypertrophic Cardiomyopathy, Filaminopathy, Distal Myopathy, Familial Isolated Restrictive Cardiomyopathy	AD	100	185 of 186
*FOXF1*	Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins , Congenital Alveolar Capillary Dysplasia	AD	95.93	74 of 96
*FOXP1*	Mental Retardation With Language Impairment And With Or Without Autistic Features, Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	AD	100	63 of 80
*G6PC3*	Severe Congenital Neutropenia	AR	100	45 of 45
*GATA4*	Atrial Septal Defect, Atrioventricular Septal Defect, Testicular Anomalies With Or Without Congenital Heart Disease, Tetralogy Of Fallot, Ventricular Septal Defect	AD	94.69	108 of 130
*GATA6*	Atrial Septal Defect, Atrioventricular Septal Defect, Conotruncal Heart Malformations, Truncus Arteriosus Communis, Pancreatic Agenesis And Congenital Heart Defects, Tetralogy Of Fallot, Congenital Diaphragmatic Hernia Syndrome	AD,AR	84.19	66 of 84
*GBA*	Gaucher Disease, Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	AD,AR	100	469 of 471
*GDF2*	Hereditary Hemorrhagic Telangiectasia	AD	98.58	51 of 57
*GJA1*	Atrioventricular Septal Defect, Hypoplastic Left Heart Syndrome	AD,AR,MU,O	100	119 of 119
*HBB*	Alpha-Thalassemia, Beta-Thalassemia, Sickle Cell Anemia, Delta-Beta-Thalassemia, Hemoglobin C-Beta-Thalassemia Syndrome, Hemoglobin E-Beta-Thalassemia Syndrome	AD,AR	100	753 of 789
*HLA-B*	Spondyloarthropathy, Behcet Disease, Takayasu Arteritis	MU	99.55	1 of 1
*HLA-DRB1*	Multiple Sclerosis, Sarcoidosis, Diffuse Cutaneous Systemic Sclerosis, Limited Cutaneous Systemic Sclerosis	AD,MU	97.19	2 of 2
*HSPG2*	Dyssegmental Dysplasia Silverman-Handmaker Type , Schwartz-Jampel Syndrome Type 1	AR	99.41	68 of 69
*IDUA*	Hurler Syndrome, Hurler-Scheie Syndrome	AR	99.73	287 of 292
*IKBKG*	Ectodermal Dysplasia And Immunodeficiency	X,XR,XD,G	38.16	NA of NA
*IL12B*	Immunodeficiency, Takayasu Arteritis	AR	100	12 of 12
*IRF5*	Diffuse Cutaneous Systemic Sclerosis, Limited Cutaneous Systemic Sclerosis, Primary Biliary Cholangitis	–	99.33	1 of 1
*JAK2*	Budd-Chiari Syndrome, Familial Erythrocytosis, Myelofibrosis With Myeloid Metaplasia, Polycythemia Vera, Essential Thrombocythemia, Primary Myelofibrosis	AD,AR	99.63	25 of 27
*KCNK3*	Primary Pulmonary Hypertension	AD	98.11	23 of 26
*KCNN4*	Dehydrated Hereditary Stomatocytosis	AD	99.78	3 of 4
*KIAA0319L*	Limited Cutaneous Systemic Sclerosis	–	99.97	NA of NA
*KIF20A*	Familial Isolated Restrictive Cardiomyopathy	–	99.97	2 of 2
*KRAS*	Cardiofaciocutaneous Syndrome, Noonan Syndrome, Pancreatic Cancer, Schimmelpenning-Feuerstein-Mims Syndrome, Toriello-Lacassie-Droste Syndrome	AD	100	38 of 38
*KRT18*	Familial Cirrhosis With Pulmonary Hypertension	AD,AR	100	14 of 14
*KRT8*	Familial Cirrhosis With Pulmonary Hypertension	AD,AR	99.98	26 of 26
*LAMA2*	Muscular Dystrophy, Congenital Merosin-Deficient 1a, Limb-Girdle Muscular Dystrophy, Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	AR	100	363 of 377
*LAMB2*	Pierson Syndrome, Synaptic Congenital Myasthenic Syndromes	AR	100	129 of 129
*LIFR*	Stuve-Wiedemann Syndrome	AR	99.81	33 of 33
*LIPA*	Lysosomal Acid Lipase Deficiency, Cholesteryl Ester Storage Disease, Wolman Disease	AR	99.91	103 of 104
*LIPT1*	Lipoyl Transferase Deficiency, Leigh Syndrome With Leukodystrophy	AR	97.25	10 of 10
*LMNA*	Dilated Cardiomyopathy, Charcot-Marie-Tooth Disease Type 2b1, Emery-Dreifuss Muscular Dystrophy, Heart-Hand Syndrome, Hutchinson-Gilford Progeria Syndrome, Malouf Syndrome, Lethal Restrictive Dermopathy	AD,AR	100	619 of 620
*MED12*	Lujan-Fryns Syndrome, Ohdo Syndrome, Opitz-Kaveggia Syndrome, X-linked Intellectual Disability With Marfanoid Habitus	X,XR,G	100	NA of NA
*MED25*	Basel-Vanagaite-Smirin-Yosef Syndrome, Charcot-Marie-Tooth Disease Type 2b2	AR	100	5 of 5
*MGP*	Keutel Syndrome	AR	99.93	7 of 7
*MLX*	Takayasu Arteritis		82.12	NA of NA
*MPL*	Myelofibrosis With Myeloid Metaplasia, Essential Thrombocythemia, Familial Thrombocytosis, Polycythemia Vera, Primary Myelofibrosis	AD,AR	100	55 of 55
*MUC5B*	Idiopathic Pulmonary Fibrosis	AD	99.89	12 of 12
*MYH6*	Atrial Septal Defect, Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy	AD	99.94	140 of 142
*MYPN*	Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Nemaline Myopathy, Cap Myopathy, Familial Isolated Restrictive Cardiomyopathy	AD,AR	99.94	49 of 49
*ND1*	Leber Optic Atrophy, Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes, Leber Hereditary Optic Neuropathy, Mitochondrial DNA-Associated Leigh Syndrome	MI	na	na
*ND4*	Leber Optic Atrophy, Leber Hereditary Optic Neuropathy, Mitochondrial DNA-Associated Leigh Syndrome	MI	na	na
*ND5*	Leber Optic Atrophy, Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes, Leber Hereditary Optic Neuropathy, Mitochondrial DNA-Associated Leigh Syndrome	MI	99.89	NA of NA
*ND6*	Leber Optic Atrophy , Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes, Leber Hereditary Optic Neuropathy, Mitochondrial DNA-Associated Leigh Syndrome	MI	100	NA of NA
*NFIX*	Marshall-Smith Syndrome, Sotos Syndrome, Malan Overgrowth Syndrome, Marshall-Smith Syndrome	AD	94.42	75 of 81
*NFU1*	Multiple Mitochondrial Dysfunctions Syndrome	AR	100	13 of 15
*NKX2-1*	Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress, Brain-Lung-Thyroid Syndrome	AD	97.04	115 of 123
*NKX2-5*	Atrial Septal Defect With Or Without Atrioventricular Conduction Defects, Conotruncal Heart Malformations, Truncus Arteriosus Communis, Hypoplastic Left Heart Syndrome, Tetralogy Of Fallot, Ventricular Septal Defect, Atrial Septal Defect, Familial Bicuspid Aortic Valve, Familial Progressive Cardiac Conduction Defect, Hypoplastic Left Heart Syndrome, Tetralogy Of Fallot	AD,AR	99.98	112 of 116
*NOD2*	Inflammatory Bowel Disease, Yao Syndrome, Blau Syndrome	AD,MU	100	97 of 97
*NOTCH1*	Adams-Oliver Syndrome, Aortic Valve Disease, Familial Bicuspid Aortic Valve	AD	99.83	178 of 179
*PAM16*	Chondrodysplasia, Megarbane-Dagher-Melki Type	AR	41	2 of 2
*PDSS1*	Coenzyme Q10 Deficiency	AR	97.34	5 of 5
*PIEZO1*	Dehydrated Hereditary Stomatocytosis	AD,AR	99.98	107 of 107
*PIGA*	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, Paroxysmal Nocturnal Hemoglobinuria, West Syndrome	X,XR,G	97.98	NA of NA
*PIGN*	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, Fryns Syndrome	AR	93.97	36 of 39
*PPCS*	Dilated Cardiomyopathy	AR	98.95	4 of 4
*RBPJ*	Adams-Oliver Syndrome	AD	99.98	8 of 8
*SARS2*	Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis	AR	97.5	6 of 6
*SCARB2*	Action Myoclonus-Renal Failure Syndrome, Gaucher Disease, Unverricht-Lundborg Disease	AR	99.95	29 of 29
*SFTPA2*	Idiopathic Pulmonary Fibrosis	AD	99.98	6 of 6
*SFTPB*	Pulmonary Surfactant Metabolism Dysfunction, Infant Acute Respiratory Distress Syndrome, Neonatal Acute Respiratory Distress Due To Sp-b Deficiency	AR	100	27 of 27
*SFTPC*	Idiopathic Pulmonary Fibrosis, Surfactant Metabolism Dysfunction, Infant Acute Respiratory Distress Syndrome	AD	99.84	83 of 83
*SLC25A24*	Fontaine Progeroid Syndrome, Gorlin-Chaudhry-Moss Syndrome	AD	99.59	2 of 2
*SLC29A3*	Histiocytosis-Lymphadenopathy Plus Syndrome, Dysosteosclerosis	AR	100	32 of 32
*SLC37A4*	Glycogen Storage Disease Ib, Glycogen Storage Disease Ic	AR	99.97	112 of 112
*SLC4A1*	Hereditary Spherocytosis, Dehydrated Hereditary Stomatocytosis	AD,AR	100	139 of 139
*SMAD4*	Juvenile Polyposis Syndrome, Hereditary Hemorrhagic Telangiectasia, Myhre Syndrome	AD	99.56	136 of 136
*SMAD9*	Primary Pulmonary Hypertension	AD	99.97	35 of 35
*SNX10*	Osteopetrosis	AR	100	14 of 14
*SPECC1L*	Opitz Gbbb Syndrome	AD	99.66	14 of 14
*STAT1*	Immunodeficiency, Mycobacterial And Viral Infections, Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	AD,AR	100	138 of 138
*TBX20*	Atrial Septal Defect Ostium Secundum Type	AD	99.98	33 of 34
*TBX4*	Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension, Coxopodopatellar Syndrome	AD,AR	99.72	91 of 94
*TCIRG1*	Osteopetrosis, Autosomal Dominant Severe Congenital Neutropenia, Dysosteosclerosis	AR	100	140 of 146
*TERT*	Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, Idiopathic Pulmonary Fibrosis, Hoyeraal-Hreidarsson Syndrome	AD,AR	99.09	194 of 197
*THPO*	Thrombocythemia, Familial Thrombocytosis	AD	100	11 of 11
*TLL1*	Atrial Septal Defect Ostium Primum Type , Atrial Septal Defect Ostium Secundum Type	AD	99.96	8 of 8
*TNFSF11*	Osteopetrosis	AR	99.84	4 of 4
*TNNI3*	Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Familial Restrictive Cardiomyopathy	AD,AR	100	139 of 139
*TNNT2*	Dilated Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Familial Restrictive Cardiomyopathy	AD	100	169 of 169
*TRNF*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes, Myoclonic Epilepsy Associated With Ragged-Red Fibers	MI	NA	NA
*TRNH*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes, Myoclonic Epilepsy Associated With Ragged-Red Fibers	–	NA	NA
*TRNL1*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes, Myoclonic Epilepsy Associated With Ragged-Red Fibers, Kearns-Sayre Syndrome, Mitochondrial DNA-Associated Leigh Syndrome	MI	NA	NA
*TRNQ*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	MI	NA	NA
*TRNS1*	Mitochondrial Complex IV Deficiency , Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes , Mitochondrial DNA-Related Progressive External Ophthalmoplegia	AR,MI	NA	NA
*TRNS2*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes, Usher Syndrome Type 3	MI	NA	NA
*TRNW*	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes , Mitochondrial Myopathy, Episodic, With Optic Atrophy And Reversible Leukoencephalopathy , Mitochondrial DNA-associated Leigh Syndrome	AR,MI	NA	NA
*UBE2A*	Mental Retardation, X-linked, Syndromic, Nascimento Type	X,XR,G	99.99	NA of NA
*VAC14*	Striatonigral Degeneration, Childhood-Onset, Yunis-Varon Syndrome	AR	100	11 of 11
*VPS33A*	Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	AR	97.86	1 of 1
*ZMPSTE24*	Mandibuloacral Dysplasia With Type B Lipodystrophy, Lethal Restrictive Dermopathy, Hutchinson-Gilford Progeria Syndrome	AR	100	35 of 36

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

See scientific referrals

Simonneau, G., Robbins, I., Beghetti, M., Channick, R., Delcroix, M., & Denton, C. et al. (2009). Updated Clinical Classification of Pulmonary Hypertension. Journal Of The American College Of Cardiology, 54(1), S43-S54. doi: 10.1016/j.jacc.2009.04.012

Morrell, N. W., Aldred, M. A., Chung, W. K., Elliott, C. G., Nichols, W. C., Soubrier, F., Trembath, R. C., & Loyd, J. E. (2019). Genetics and genomics of pulmonary arterial hypertension. The European respiratory journal, 53(1), 1801899. https://doi.org/10.1183/13993003.01899-2018

Southgate, L., Machado, R. D., Gräf, S., & Morrell, N. W. (2020). Molecular genetic framework underlying pulmonary arterial hypertension. Nature reviews. Cardiology, 17(2), 85–95. https://doi.org/10.1038/s41569-019-0242-x

Rhodes, C. J., Batai, K., Bleda, M., Haimel, M., Southgate, L., Germain, M., Pauciulo, M. W., Hadinnapola, C., Aman, J., Girerd, B., Arora, A., Knight, J., Hanscombe, K. B., Karnes, J. H., Kaakinen, M., Gall, H., Ulrich, A., Harbaum, L., Cebola, I., Ferrer, J., … US PAH Biobank Consortium (2019). Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis. The Lancet. Respiratory medicine, 7(3), 227–238. https://doi.org/10.1016/S2213-2600(18)30409-0

Soubrier, F., Chung, W. K., Machado, R., Grünig, E., Aldred, M., Geraci, M., Loyd, J. E., Elliott, C. G., Trembath, R. C., Newman, J. H., & Humbert, M. (2013). Genetics and genomics of pulmonary arterial hypertension. Journal of the American College of Cardiology, 62(25 Suppl), D13–D21. https://doi.org/10.1016/j.jacc.2013.10.035

McLaughlin, V., Archer, S., Badesch, D., Barst, R., Farber, H., & Lindner, J. et al. (2009). ACCF/AHA 2009 Expert Consensus Document on Pulmonary Hypertension. Circulation, 119(16), 2250-2294. doi: 10.1161/circulationaha.109.192230

“2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension. The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS).” Nazzareno Galiè, Marc Humbert, Jean-Luc Vachiery, Simon Gibbs, Irene Lang, Adam Torbicki, Gérald Simonneau, Andrew Peacock, Anton Vonk Noordegraaf, Maurice Beghetti, Ardeschir Ghofrani, Miguel Angel Gomez Sanchez, Georg Hansmann, Walter Klepetko, Patrizio Lancellotti, Marco Matucci, Theresa McDonagh, Luc A. Pierard, Pedro T. Trindade, Maurizio Zompatori and Marius Hoeper. Eur Respir J 2015; 46: 903–975. (2015). European Respiratory Journal, 46(6), 1855-1856. doi: 10.1183/13993003.51032-2015

BROCHURE

Download

Pulmonary Artery Hypertension

Pulmonary Artery Hypertension (PAH) is defined as a mean pulmonary arterial pressure greater than 25mmHg at rest or greater than 30mmHg during exercise.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

BROCHURE

Request Information