{"orpha":137628,"name":"Cardiac anomalies-heterotaxy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137628/","orphanet_url":"https://www.orpha.net/en/disease/detail/137628","names":{"fr":{"name":"Syndrome d'anomalies cardiaques-hétérotaxie","definition":"Le syndrome d'anomalies cardiaques-hétérotaxie se caractérise par une non compaction du myocarde ventriculaire, une bradycardie, une sténose de la valve pulmonaire et un défaut du septum interauriculaire. Des défauts de latéralisation sont également present. Neuf cas issus de trois générations d'une même famille ont été décrits. La transmission de ce syndrome est autosomique dominante et a été associée à la région chromosomique 6p24.3-21.2."},"de":{"name":"Herzanomalien-Heterotaxie-Syndrom","definition":"Das Syndrom ist gekennzeichnet durch Non-Compaction des Kammermyokards, Bradykardie, Pulmonalstenose und Secundum-Defekt des Vorhofseptums. Auch Anomalien der Lateralitäts-Sequenz wurden gesehen."},"es":{"name":"Síndrome de anomalías cardíacas-heterotaxia","definition":"Este síndrome se caracteriza por la no compactación del miocardio ventricular, bradicardia, estenosis de la válvula pulmonar y defecto septal auricular tipo secundum. Los defectos de lateralización también están presentes. Hasta el momento, el síndrome se ha descrito en nueve miembros de una misma familia, pertenecientes a tres generaciones diferentes. La transmisión es autosómica dominante y se ha asociado a la región cromosómica 6p24.3-21.2."},"it":{"name":"Anomalie cardiache - eterotassia"},"nl":{"name":"Hartanomalieën - heterotaxie-syndroom","definition":"Een syndroom, gekenmerkt door non-compactie van ventriculair myocard, bradycardie, pulmonalisklepstenose, en secundum-type atriumseptumdefect. Anomalieën van lateralisatie zijn ook aanwezig. Tot op heden werd het syndroom beschreven bij negen leden uit drie generaties van eenzelfde familie. Transmissie gebeurt autosomaal dominant, en koppeling aan chromosoom 6p24.3-21.2 werd gerapporteerd."},"pt":{"name":"Síndrome de anomalias cardíacas-heterotaxia","definition":"Esta síndrome é caracterizada pela não compactção do miocardio cardíaco, bradicardia, estenose da valva pulmonar, e deficiência do septo secundário atrial. Também estão presentes anomalias lateralmente sequenciadas."},"pl":{"name":"Wady serca - heterotaksja"},"cs":{"name":"Syndrom zahrnující srdeční anomálie a heterotaxii"},"uk":{"name":"Синдром серцевих аномалій-гетеротаксису","definition":"Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported."},"zh":{"name":"心脏异常-异构综合征","definition":"心脏异常-异位综合征的特征是心室心肌不致密化、心动过缓、肺动脉瓣狭窄和继发性房间隔缺损。侧向序列异常也存在。到目前为止，该综合症已经在同一家族三代的九名成员身上得到了描述。该病为常染色体显性遗传，与染色体6p24.3-21.2有连锁报道。"},"tr":{"name":"Kardiyak anomalileri-heterotaksi sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q28.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA8Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015296","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303970","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"17938964[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17938964[PMID]"}],"phenotypes":null}