{"orpha":300751,"name":"Familial dilated cardiomyopathy with conduction defect due to LMNA mutation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare familial cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300751/","orphanet_url":"https://www.orpha.net/en/disease/detail/300751","names":{"fr":{"name":"Cardiomyopathie dilatée familiale avec trouble de la conduction due à une mutation de LMNA","definition":"Cardiomyopathie familiale rare caractérisée par une dilatation du ventricule gauche et/ou une réduction de la fonction systolique précédée(s) ou accompagnée(s) d'un trouble significatif du système de conduction et/ou du rythme cardiaque, y compris des bradyarythmies, des arythmies supraventriculaires ou ventriculaires. La maladie se déclare généralement au début ou au milieu de l'âge adulte. La survenue d'une mort subite d'origine cardiaque en tant que premier symptôme de la cardiomyopathie est possible. Dans certains cas, la maladie est associée à une myopathie des muscles squelettiques."},"de":{"name":"Familiäre dilatative Kardiomyopathie mit Reizleitungs-Defekt durch LMNA-Genmutation","definition":"Eine seltene familiäre Kardiomyopathie, die durch eine Vergrößerung des linken Ventrikels und/oder eine eingeschränkte systolische Funktion gekennzeichnet ist, der eine signifikante Erkrankung des Reizleitungssystems und/oder Herzrhythmusstörungen einschließlich Bradyarrhythmien, supraventrikuläre oder ventrikuläre Arrhythmien vorausgehen oder damit einhergehen. Die Krankheit beginnt in der Regel im frühen bis mittleren Erwachsenenalter. Der plötzliche Herztod kann auftreten und das erste Symptom sein. In einigen Fällen ist die Krankheit mit einer Skelettmuskelerkrankung verbunden."},"es":{"name":"Miocardiopatía dilatada familiar con defecto de conducción por una mutación en el gen LMNA","definition":"Es una miocardiopatía familiar poco frecuente caracterizada por la dilatación del ventrículo izquierdo y/o función sistólica reducida precedida o acompañada por enfermedad del sistema de conducción significativa y/o arritmias, incluyendo bradiarritmias y arritmias supraventriculares o ventriculares. Por lo general, la enfermedad debuta en la edad adulta temprana o media. Puede ocurrir muerte cardíaca súbita, siendo éste el síntoma de presentación. En algunos casos, se asocia a miopatía esquelética."},"it":{"name":"Cardiomiopatia dilatativa familiare con difetto di conduzione da mutazione in LMNA","definition":"La cardiomiopatia dilatativa familiare con difetto di conduzione da mutazione nel gene LMNA è una cardiomiopatia dilatativa familiare rara, caratterizzata dall'allargamento del ventricolo sinistro e/o dalla riduzione della funzione sistolica, preceduta o accompagnata da un difetto significativo del sistema di conduzione e/o da aritmie (bradiaritmie, aritmie sopraventricolari o ventricolari). Di solito la malattia esordisce all'inizio dell'età adulta o nell'età adulta intermedia. Può anche esordire con la morte cardiaca improvvisa. In alcuni pazienti si associa a miopatia scheletrica e a livelli elevati di creatin-chinasi nel siero."},"nl":{"name":"Familiale gedilateerde cardiomyopathie met geleidingsdefect door LMNA-mutatie","definition":"Een zeldzame familiale cardiomyopathie, gekarakteriseerd door vergroting van linkerventrikel en/of verminderde systolische functie, voorafgegaan door of vergezeld van significante stoornis van geleidingssysteem en/of aritmie waaronder bradyaritmie, en supraventriculaire of ventriculaire aritmie. De ziekte vangt meestal aan in de vroege volwassenheid of halverwege de volwassenheid. Plotse hartdood kan voorkomen en kan het presenterende symptoom zijn. In sommige gevallen is er associatie met skeletmyopathie."},"pt":{"name":"Cardiomiopatia dilatada familiar com defeitos de condução por mutação no gene LMNA"},"pl":{"name":"Rodzinna kardiomiopatia rozstrzeniowa z zaburzeniami przewodzenia z powodu mutacji LMNA"},"cs":{"name":"Familiární dilatační kardiomyopatie s převodním defektem, způsobená mutací v LMNA"},"uk":{"name":"Сімейна дилатаційна кардіоміопатія з дефектом провідності внаслідок мутації LMNA","definition":"A rare familial cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy."},"zh":{"name":"LMNA基因突变所致家族性扩张型心肌病伴传导阻滞","definition":"LMNA基因突变所致家族性扩张型心肌病伴传导缺陷是一种罕见的家族性扩张型心肌病，其特征是左心室增大和/或收缩功能减退，并伴明显传导系统疾病和/或心律失常，包括缓慢心律失常，室上性或室性心律失常。常在成年早期到中期发病。可发生心源性猝死，可能为此病症状。在某些病例中，与骨骼肌病和血清肌酸激酶升高有关。"},"tr":{"name":"LMNA mutasyonuna bağlı iletim defekti ile seyreden ailesel dilate kardiyomiyopati"}},"xrefs":[{"source":"OMIM","code":"115200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I42.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC43.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"884022112"},{"source":"MONDO","code":"0007269","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"7269","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707865","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":83618,"name":"Severe dilated cardiomyopathy due to lamin A/C mutation","status":"inactive"}],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":217607,"name":"Familial dilated cardiomyopathy","classifications":[146,156]},{"orpha":300755,"name":"Laminopathy with striated muscle involvement","classifications":[156]},{"orpha":506225,"name":"Rare disorder potentially indicated for heart transplant","classifications":[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":"20301717[PMID]","hgnc":"6636","ensembl":"ENSG00000160789","omim":"150330","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"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":"2019-04-29","source":"23463027[PMID]_8567977[PMID]_16407522[PMID]_7546997[PMID]","terms":[{"hpo":"HP:0031546","label":"Cardiac conduction abnormality","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005162","label":"Abnormal left ventricular function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001637","label":"Abnormal myocardium morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009125","label":"Lipodystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031409","label":"Abnormal lymphocyte physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004749","label":"Atrial flutter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012722","label":"Heart block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012723","label":"Sinoatrial block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004755","label":"Supraventricular tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004308","label":"Ventricular arrhythmia","frequency":"Occasional (29-5%)","criteria":null}]}}