Eisenmenger syndrome

Eisenmenger syndrome (ES) is a form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.



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Narrow down the case reports



Total: 98 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(30.8%)		 9914580
 Favorable response of Eisenmenger syndrome to inhaled nitric oxide during pregnancy.
Goodwin TM, Gherman RB, Hameed A, Elkayam U.
Am J Obstet Gynecol. 1999;180(1 Pt 1):64-7.
Hypertension Methemoglobinemia
Adult Eisenmenger Complex Fatal Outcome Females Homo sapiens Hypoxia Inhalation Drug Administration Intravenous Injections Labor Stage, Second Methemoglobinemia Postpartum Period Pregnancy Pregnancy Complications, Cardiovascular Vasodilator Agents
2
(26.7%)		 16095229
 Silent pulmonary artery dissection in a patient with Eisenmenger syndrome due to ventricular septal defect: a case report.
Ejima K, Uchida T, Hen Y, Nishio Y, Nomoto F, Uchida Y, Suzuki A, Sato T, Tanino S.
J Cardiol. 2005;46(1):33-7.
Hypertension Fever Pulmonary hemorrhage
Aneurysm, Dissecting Echocardiography Eisenmenger Complex Females Fever Homo sapiens Middle Aged Pulmonary Hypertension Ventricular Septal Defects
3
(24.1%)		 17822253
 [Two patients with Eisenmenger syndrome treated with novel agents that target vasodilation of the pulmonary capillary bed].
Hamaker ME, Duffels MG, Reichert CL, Cornel JH, Mulder BJ, Umans VA.
Ned Tijdschr Geneeskd. 2007;151(32):1795-9.
Proteinuria Cyanosis
Diuretics Eisenmenger Complex Females Homo sapiens Middle Aged Piperazines Purines Sulfonamides Sulfones Vasodilation Vasodilator Agents
4
(23.8%)		 30534241
 A rare case of large aortopulmonary window with Eisenmenger syndrome and adult survival.
Nadig S, Kapoor A, Kumar S, Gaharwar S, Phadke RV.
J Cardiol Cases. 2014;10(5):193-195.
Hypertension Cyanosis Aortopulmonary window
4
(23.8%)		 28651656
 Operable patent ductus arteriosus even with differential cyanosis: a case of patent ductus arteriosus and mitral stenosis.
Gupta A, Kothari SS.
Cardiol Young. 2017;27(9):1845-1848.
Hypertension Cyanosis Patent ductus arteriosus
Cardiovascular Surgical Procedures Child Cyanosis Eisenmenger Complex Electrocardiography Homo sapiens Male Mitral Valve Stenosis Pulmonary Hypertension
4
(23.8%)		 28614229
(5478314)
 Familial clustering of congenital deafness, patent ductus arteriosus, Eisenmenger complex, and differential cyanosis: A case report.
Lin TW, Tseng CW, Huang CY, Wang KY, Liang KW.
Medicine (Baltimore). 2017;96(24):e7105.
Cyanosis Patent ductus arteriosus
Adult Cyanosis Deafness Differential Diagnosis Eisenmenger Complex Homo sapiens Sibling
4
(23.8%)		 26591153
 LEOPARD Syndrome with Patent Ductus Arteriosus and Hypertrophic Cardiomyopathy.
Jayaprasad N, Madhavan S.
J Assoc Physicians India. 2015;63(5):76-7.
Hypertelorism Cyanosis Patent ductus arteriosus
Females Homo sapiens Hypertrophic Cardiomyopathy LEOPARD Syndrome
4
(23.8%)		 24293472
 Eisenmenger syndrome in an adult patient with a large patent ductus arteriosus.
Dimopoulos K.
Eur Respir Rev. 2013;22(130):558-64.
Hypertension Cyanosis Patent ductus arteriosus
Antihypertensive Agents Eisenmenger Complex Females Homo sapiens Magnetic Resonance Imaging Pulmonary Circulation Pulmonary Hypertension Severity of Illness Index X-Ray Computed Tomography
4
(23.8%)		 23583537
 Patent ductus arteriosus with Eisenmenger syndrome.
Moustafa S, Patton DJ, Balon Y, Connelly MS, Alvarez N.
Heart Lung Circ. 2013;22(11):968-9.
Cyanosis Patent ductus arteriosus
Adult Eisenmenger Complex Females Homo sapiens
4
(23.8%)		 19954382
 Retinal vascular patterns in adults with cyanotic congenital heart disease.
Tsui I, Shamsa K, Perloff JK, Lee E, Wirthlin RS, Schwartz SD.
Semin Ophthalmol. 2009;24(6):262-5.
Cyanosis Retinal vascular tortuosity
Adult Congenital Heart Defects Cyanosis Females Homo sapiens Hypoxia Male Middle Aged Ophthalmoscopy Polycythemia Retinal Diseases
        

Phenotype(s) retrieved from Orphanet

    Total: 58

HPO ID Term Frequency
HP:0001627 Abnormal heart morphology Very frequent (99-80%)
HP:0002092 Pulmonary arterial hypertension Very frequent (99-80%)
HP:0003546 Exercise intolerance Very frequent (99-80%)
HP:0001324 Muscle weakness Frequent (79-30%)
HP:0001962 Palpitations Frequent (79-30%)
HP:0002875 Exertional dyspnea Frequent (79-30%)
HP:0004755 Supraventricular tachycardia Frequent (79-30%)
HP:0005110 Atrial fibrillation Frequent (79-30%)
HP:0005115 Supraventricular arrhythmia Frequent (79-30%)
HP:0005317 Increased pulmonary vascular resistance Frequent (79-30%)
HP:0012378 Fatigue Frequent (79-30%)
HP:0012418 Hypoxemia Frequent (79-30%)
HP:0030148 Heart murmur Frequent (79-30%)
HP:0000961 Cyanosis Occasional (29-5%)
HP:0001217 Clubbing Occasional (29-5%)
HP:0001254 Lethargy Occasional (29-5%)
HP:0001392 Abnormality of the liver Occasional (29-5%)
HP:0001541 Ascites Occasional (29-5%)
HP:0001609 Hoarse voice Occasional (29-5%)
HP:0001629 Ventricular septal defect Occasional (29-5%)
HP:0001631 Atrial septal defect Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0001681 Angina pectoris Occasional (29-5%)
HP:0001694 Right-to-left shunt Occasional (29-5%)
HP:0001708 Right ventricular failure Occasional (29-5%)
HP:0001891 Iron deficiency anemia Occasional (29-5%)
HP:0002098 Respiratory distress Occasional (29-5%)
HP:0002105 Hemoptysis Occasional (29-5%)
HP:0002240 Hepatomegaly Occasional (29-5%)
HP:0003270 Abdominal distention Occasional (29-5%)
HP:0004756 Ventricular tachycardia Occasional (29-5%)
HP:0004840 Hypochromic microcytic anemia Occasional (29-5%)
HP:0005180 Tricuspid regurgitation Occasional (29-5%)
HP:0006695 Atrioventricular canal defect Occasional (29-5%)
HP:0010741 Pedal edema Occasional (29-5%)
HP:0011227 Elevated C-reactive protein level Occasional (29-5%)
HP:0011604 Aortopulmonary window Occasional (29-5%)
HP:0011712 Right bundle branch block Occasional (29-5%)
HP:0012382 Left-to-right shunt Occasional (29-5%)
HP:0012398 Peripheral edema Occasional (29-5%)
HP:0030848 Elevated jugular venous pressure Occasional (29-5%)
HP:0030849 Hepatojugular reflux Occasional (29-5%)
HP:0031138 Abnormal B-type natriuretic peptide level Occasional (29-5%)
HP:0100749 Chest pain Occasional (29-5%)
HP:0000083 Renal insufficiency Very rare (4-1%)
HP:0001279 Syncope Very rare (4-1%)
HP:0001297 Stroke Very rare (4-1%)
HP:0001636 Tetralogy of Fallot Very rare (4-1%)
HP:0001892 Abnormal bleeding Very rare (4-1%)
HP:0002149 Hyperuricemia Very rare (4-1%)
HP:0002321 Vertigo Very rare (4-1%)
HP:0004308 Ventricular arrhythmia Very rare (4-1%)
HP:0005518 Increased mean corpuscular volume Very rare (4-1%)
HP:0006689 Bacterial endocarditis Very rare (4-1%)
HP:0007430 Generalized edema Very rare (4-1%)
HP:0030049 Brain abscess Very rare (4-1%)
HP:0030828 Wheezing Very rare (4-1%)
HP:0100724 Hypercoagulability Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 32

HPO ID Term # of case reports
HP:0000822 Hypertension 18
HP:0001629 Ventricular septal defect 13
HP:0001643 Patent ductus arteriosus 12
HP:0000961 Cyanosis 6
HP:0001694 Right-to-left shunt 4
HP:0001750 Single ventricle 2
HP:0002668 Paraganglioma 2
HP:0012383 Bidirectional shunt 2
HP:0012418 Hypoxemia 2
HP:0000093 Proteinuria 1
HP:0000843 Hyperparathyroidism 1
HP:0001217 Clubbing 1
HP:0001249 Intellectual disability 1
HP:0001511 Intrauterine growth retardation 1
HP:0001562 Oligohydramnios 1
HP:0001667 Right ventricular hypertrophy 1
HP:0001907 Thromboembolism 1
HP:0002094 Dyspnea 1
HP:0002105 Hemoptysis 1
HP:0004756 Ventricular tachycardia 1
HP:0005521 Disseminated intravascular coagulation 1
HP:0006689 Bacterial endocarditis 1
HP:0012108 Open angle glaucoma 1
HP:0012378 Fatigue 1
HP:0012382 Left-to-right shunt 1
HP:0012636 Retinal vein occlusion 1
HP:0025615 Abscess 1
HP:0030049 Brain abscess 1
HP:0031864 Bacteremia 1
HP:0040223 Pulmonary hemorrhage 1
HP:0100603 Toxemia of pregnancy 1
HP:0100753 Schizophrenia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID