{"orpha":168796,"name":"Heart-hand syndrome, Slovenian type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Atriodigital dysplasia, Slovenian type","Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome"],"definition":"A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168796/","orphanet_url":"https://www.orpha.net/en/disease/detail/168796","names":{"fr":{"name":"Syndrome cardiomélique type slovène","synonyms":["Dysplasie atrio-digitale type slovène","Syndrome coeur-main type slovène","Syndrome coeur-membres type slovène","Syndrome de trouble du rythme-cardiomyopathie dilatée-brachydactylie"],"definition":"Forme autosomique dominante rare du syndrome cardiomélique, initialement décrit chez les membres d'une famille slovène. Il se manifeste à l'âge adulte et se caractérise par un trouble progressif de la conduction cardiaque, des tachyarythmies qui peuvent mener à une mort subite, une cardiomyopathie dilatée et une brachidactylie, les mains étant moins gravement touchées que les pieds. Une faiblesse musculaire et/ou des données myopathiques électromyographiques ont été observées dans certains cas."},"de":{"name":"Herz-Hand-Syndrom, slowenischer Typ","synonyms":["Atriodigitale Dysplasie vom slowenischen Typ","Kardiale Reizleitungsstörungen-dilatative Kardiomyopathie-Brachydaktylie-Syndrom"],"definition":"Der Slowenische Typ des Herz-Hand-Syndroms ist eine seltene autosomal-dominant vererbte Form des Herz-Hand-Syndroms (siehe dort), die zuerst bei Mitgliedern einer slowenischen Familie beschrieben wurde. Die Krankheit ist gekennzeichnet durch Beginn im Erwachsenenalter, progrediente kardiale Reizleitungsstörungen, Tachyarrhythmien, die zu plötzlichem Tod führen können, dilatative Kardiomyopathie und Brachydaktylie, die an den Füßen stärker ausgeprägt ist als an den Händen. Bei einigen Patienten wurden Muskelschwäche und/oder myopathische Zeichen im Elektromyogramm gefunden."},"es":{"name":"Síndrome corazón-mano tipo esloveno","synonyms":["Displasia atriodigital tipo esloveno","Síndrome de enfermedad de conducción cardíaca-miocardiopatía dilatada-braquidactilia"],"definition":"El síndrome corazón-mano tipo esloveno es una forma autosómica dominante poco frecuente del síndrome corazón-mano (consulte este término), descrita por primera vez en miembros de una familia eslovena, y que se caracteriza por: aparición en la edad adulta, enfermedad progresiva del sistema de conducción cardíaca, taquiarritmias que pueden provocar una muerte súbita, miocardiopatía dilatada y braquidactilia, con menor afectación en manos que en pies). En algunos casos, se ha observado debilidad muscular y/o hallazgos electromiográficos miopáticos."},"it":{"name":"Sindrome cuore-mano, tipo sloveno","synonyms":["Displasia atriodigitale, tipo sloveno","Sindrome disturbo della conduzione cardiaca-cardiomiopatia dilatativa-brachidattilia"],"definition":"La sindrome cuore-mano tipo sloveno è una forma rara, autosomica dominante, della sindrome cuore-mano (si veda questo termine), descritta per la prima volta in alcuni soggetti di una famiglia slovena; è caratterizzata da esordio nell'età adulta, da un difetto progressivo della conduzione cardiaca, tachiaritmie che possono esitare in morte improvvisa, cardiomiopatia dilatativa e brachidattilia, con interessamento delle mani meno grave rispetto a quello dei piedi. In alcuni casi, sono stati osservati segni elettromiografici di miopatia e/o debolezza muscolare."},"nl":{"name":"Hart-handsyndroom, Sloveens type","synonyms":["Atriodigitale dysplasie, Sloveens type","Hartgeleidingsziekte - gedilateerde cardiomyopathie - brachydactylie-syndroom"],"definition":"Hart-handsyndroom van het Sloveens type is een zeldzame autosomaal dominante vorm van hart-handsyndroom (zie deze term), voor het eerst beschreven bij leden van een Sloveense familie, die gekenmerkt wordt door aanvang in de volwassenheid, progressieve hartgeleidingsziekte, tachyaritmieën die kunnen leiden tot plotse dood, gedilateerde cardiomyopathie en brachydactylie, waarbij de handen minder zwaar getroffen zijn dan de voeten. In sommige gevallen werden spierzwakte en/of myopathische electromyografische bevindingen waargenomen."},"pt":{"name":"Síndrome mão-coração, tipo esloveno"},"pl":{"name":"Zespół serce-ręka, typ słoweński","synonyms":["Choroba przewodzenia w sercu - kardiomiopatia rozstrzeniowa - brachydaktylia","Dysplazja przedsionkowo-palcowa, typ słoweński"]},"cs":{"name":"Syndrom srdce-ruka, slovinský typ","synonyms":["Atriodigitální dysplázie, slovinský typ","Syndrom zahrnující poruchu převodního systému srdce, dilatační kardiomyopatii a brachydaktylii","Syndrom Holtové-Oramův","Syndrom Holt-Oramův"]},"uk":{"name":"Синдром серце-рука, словенський тип","synonyms":["Атріодигітальна дисплазія, словенський тип","Синдром порушення серцевої провідності - дилатаційної кардіоміопатії-брахідактилії"],"definition":"A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases."},"zh":{"name":"斯洛文尼亚型心手综合征","synonyms":["心脏传导疾病-扩张性心肌病-短指（趾）综合征"],"definition":"斯洛文尼亚型心-手综合征是一种罕见的心-手综合征（见该术语），在斯洛文尼亚家族成员中首次报道，常发生于成人，多以常染色体显性方式遗传。其主要临床表现为进行性心脏传导系统疾病，可导致猝死性快速心律失常、扩张型心肌病和短指畸形，上肢比下肢严重。部分病例出现肌无力性和（或）肌病性肌电图表现。"},"tr":{"name":"Kalp-el sendromu, Sloven tipi","synonyms":["Atriodijital displazi, Sloven tipi","Kardiyak ileti hastalığı-dilate kardiyomiyopati-brakidaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"610140","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1814304618"},{"source":"MONDO","code":"0012417","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535852","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857829","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9846","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":101934,"name":"Genetic cardiac rhythm disease","classifications":[146,156]},{"orpha":228184,"name":"Heart-hand syndrome","classifications":[147,156,199]},{"orpha":300755,"name":"Laminopathy with striated muscle involvement","classifications":[156]},{"orpha":217619,"name":"Syndrome associated with dilated cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"LMNA","name":"lamin A/C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18611980[PMID]","hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"15996213[PMID]_27723096[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15996213[PMID]_27723096[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-03","source":"18611980[PMID]","terms":[{"hpo":"HP:0005150","label":"Abnormal atrioventricular conduction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011702","label":"Abnormal electrophysiology of sinoatrial node origin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005115","label":"Supraventricular arrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null}]}}