{"orpha":1686,"name":"Cardiac diverticulum","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1686/","orphanet_url":"https://www.orpha.net/en/disease/detail/1686","names":{"fr":{"name":"Diverticule du coeur","definition":"Une anomalie rare du développement embryonnaire caractérisée par un appendice musculaire émergeant de l'apex ventriculaire gauche, rarement du ventricule droit ou des deux chambres, avec des manifestations cliniques en étant asymptomatique jusqu'à l'effondrement hémodynamique mettant la vie en jeu."},"de":{"name":"Herzdivertikel"},"es":{"name":"Divertículo cardíaco","definition":"Es una malformación congénita muy poco frecuente caracterizada por un apéndice de origen miocárdico que emerge del ápice ventricular izquierdo y, excepcionalmente del ventrículo derecho o de ambas cámaras con manifestaciones clínicas variables, desde un estado asintomático hasta un colapso hemodinámico potencialmente mortal."},"it":{"name":"Diverticolo cardiaco"},"nl":{"name":"Cardiaal divertikel","definition":"Congenitaal cardiaal divertikel (CCD) is een zeer zeldzame congenitale malformatie die gekarakteriseerd wordt door een musculaire appendix vanuit de apex van het linkerventrikel, of in zeldzame gevallen vanuit het rechterventrikel of vanuit beide kamers, met klinische manifestaties gaande van asymptomatisch tot levensbedreigende hemodynamische collaps."},"pt":{"name":"Divertículo cardíaco","definition":"O divertículo cardíaco congénito (DCC) é uma malformação congénita muito rara, caracterizada por um apêndice muscular que emerge do ápex do ventrículo esquerdo, raramente do ventrículo direito ou de ambas as câmaras, com manifestações clínicas que variam de assintomáticas a colapso hemodinâmico com risco de vida."},"pl":{"name":"Uchyłek serca"},"cs":{"name":"Srdeční divertikl","synonyms":["Vrozený divertikl levé komory"]},"uk":{"name":"Дивертикул серця","definition":"Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse."},"zh":{"name":"心脏憩室"},"tr":{"name":"Kardiyak divertikül"}},"xrefs":[{"source":"ICD-10","code":"Q24.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LA88.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015677","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0546315","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1094","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":88991,"name":"Rare congenital heart disease","classifications":[147,148]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-18","source":"32065468[PMID]_25782048[PMID]","terms":[{"hpo":"HP:0003115","label":"Abnormal EKG","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010866","label":"Abdominal wall defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001679","label":"Abnormal aortic morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000775","label":"Abnormality of the diaphragm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006714","label":"Aplasia/Hypoplasia of the sternum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011628","label":"Congenital defect of the pericardium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001540","label":"Diastasis recti","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010773","label":"Partial anomalous pulmonary venous return","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005301","label":"Persistent left superior vena cava","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004971","label":"Pulmonary artery hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004415","label":"Pulmonary artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001669","label":"Transposition of the great arteries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006682","label":"Ventricular extrasystoles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011636","label":"Abnormal coronary artery origin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005182","label":"Bicuspid pulmonary valve","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100584","label":"Endocarditis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001718","label":"Mitral stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001907","label":"Thromboembolism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011662","label":"Tricuspid atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010446","label":"Tricuspid stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001663","label":"Ventricular fibrillation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004756","label":"Ventricular tachycardia","frequency":"Very rare (<4-1%)","criteria":null}]}}