{"orpha":75565,"name":"Tropical endomyocardial fibrosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Davies disease","TEMF"],"definition":"Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardiomyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-75565/","orphanet_url":"https://www.orpha.net/en/disease/detail/75565","names":{"fr":{"name":"Fibrose endomyocardique tropicale","synonyms":["Maladie de Davies","TEMF"],"definition":"Cardiopathie restrictive, survenant presque exclusivement chez les enfants et les jeunes adultes des régions tropicales et subtropicales, caractérisée par une fibrose de l'endocarde, affectant l'apex et les chambres d'admission du ventricule droit ou gauche (ou les deux) et se manifestant par une cardiomyopathie restrictive et une régurgitation auriculo-ventriculaire conduisant à une hypertension pulmonaire sévère, une pression veineuse systémique très élevée et une insuffisance cardiaque congestive. Les causes présumées sont l'infection à helminthes et à protozoaires et la malnutrition."},"de":{"name":"Endomyokardfibrose, tropische","synonyms":["Davies-Krankheit","TEMF"],"definition":"Die tropische Endomyokardfibrose ist eine restriktive Kardiopathie, die fast ausschließlich bei Kindern und jungen Erwachsenen in tropischen und subtropischen Regionen auftritt. Sie ist durch eine Endokardfibrose gekennzeichnet, die die Spitzen und den Einflusstrakt der rechten oder linken Herzkammer (oder beider) betrifft und sich durch eine restriktive Kardiomyopathie und eine atrioventrikuläre Regurgitation manifestiert, die zu schwerer pulmonaler Hypertonie, sehr hohem systemischem Venendruck und kongestiver Herzinsuffizienz führt. Als mögliche Ursachen werden Parasitenbefall (Helminthen und Protozoen) und Mangelernährung vermutet."},"es":{"name":"Fibrosis endomiocárdica tropical","synonyms":["Enfermedad de Davies","FEM tropical"],"definition":"Es una miocardiopatía restrictiva que ocurre casi exclusivamente en niños y jóvenes adultos en regiones tropicales y subtropicales. Se caracteriza por fibrosis endomiocárdica que afecta al ápex y al tracto de entrada de uno o ambos ventrículos y que se manifiesta como miocardiopatía restrictiva con insuficiencias de las válvulas auriculoventriculares que conduce a hipertensión pulmonar grave, presión venosa sistémica muy elevada e insuficiencia cardiaca congestiva. Como posible etiología se incluye la infección por helmintos y protozoos, y la malnutrición."},"it":{"name":"Fibrosi endomiocardica tropicale","synonyms":["Malattia di Davies","TEMF"],"definition":"La fibrosi endomiocardica tropicale è una cardiopatia restrittiva, che colpisce quasi esclusivamente i bambini e i giovani adulti nelle aree tropicali o subtropicali. E' caratterizzata da fibrosi endocardica, che interessa gli apici e il tratto di afflusso del ventricolo destro o sinistro (o entrambi) ed esordisce con cardiomiopatia restrittiva e rigurgito atrioventricolare, che esita in ipertensione polmonare grave, elevata pressione venosa sistemica ed insufficienza cardiaca congestizia. Si ipotizza che sia secondaria alla contaminazione da elminti e da protozoi oppure alla malnutrizione."},"nl":{"name":"Tropische endomyocardfibrose","synonyms":["TEMF","Ziekte van Davies"],"definition":"Tropische endomyocardfibrose is een restrictieve cardiopathie die bijna uitsluitend voorkomt bij kinderen en jonge volwassenen in tropische en subtropische regio's. De aandoening wordt gekarakteriseerd door endocardiale fibrose die de apex en de instroombaan van het rechter of linker ventrikel (of beiden) treft, en manifesteert zich met een restrictieve cardiomyopathie en atrioventriculaire terugstroming, met als gevolg ernstige pulmonale hypertensie, zeer hoge systemische veneuze druk en congestief hartfalen. Vermoedelijke etiologieën zijn onder meer besmetting met een lintworm en protozoa, en ondervoeding."},"pt":{"name":"Fibrose endomiocárdica tropical","synonyms":["Doença de Davies","TEMF"]},"pl":{"name":"Tropikalne zwłóknienie wsierdzia","synonyms":["Choroba Daviesa","TEMF"]},"cs":{"name":"Tropická endomyokardiální fibróza","synonyms":["Daviesova nemoc","TEMF"]},"uk":{"name":"Тропічний ендоміокардіофіброз","synonyms":["Хвороба Девіса","TEMF"],"definition":"Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition."},"zh":{"name":"热带心内膜心肌纤维化","synonyms":["Davies病"]},"tr":{"name":"Tropikal endomiyokardiyal fibroz","synonyms":["TEMF","Davies hastalığı"]}},"xrefs":[{"source":"ICD-10","code":"I42.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"BC43.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"365224859"},{"source":"MONDO","code":"0019158","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2882252","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":217720,"name":"Non-familial restrictive cardiomyopathy","classifications":[146]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-28","source":"31758352[PMID]_31414216[PMID]_30020665[PMID]","terms":[{"hpo":"HP:0006685","label":"Endocardial fibrosis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003115","label":"Abnormal EKG","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001723","label":"Restrictive cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012249","label":"Abnormal ST segment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025077","label":"Decreased QRS voltage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031295","label":"Left atrial enlargement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011713","label":"Left bundle branch block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025168","label":"Left ventricular diastolic dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004395","label":"Malnutrition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012764","label":"Orthopnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012398","label":"Peripheral edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006677","label":"Prolonged QRS complex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030950","label":"Pulmonary venous hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033114","label":"Quadruple gallop rhythm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031664","label":"Systolic heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031595","label":"Abnormal P wave","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005135","label":"Abnormal T-wave","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031650","label":"Abnormal atrioventricular valve physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004749","label":"Atrial flutter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030149","label":"Cardiogenic shock","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030848","label":"Elevated jugular venous pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030783","label":"Increased circulating interleukin 6 concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006690","label":"Myocardial calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012664","label":"Reduced left ventricular ejection fraction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011663","label":"Right ventricular cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004755","label":"Supraventricular tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001907","label":"Thromboembolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005145","label":"Coronary artery stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031601","label":"P pulmonale","frequency":"Very rare (<4-1%)","criteria":null}]}}