{"orpha":565612,"name":"Primary triglyceride deposit cardiomyovasculopathy","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["P-TGCV","Primary neutral lipid storage disease with severe cardiovascular involvement"],"definition":"A rare inborn error of metabolism characterized by massive accumulation of triglycerides in the myocardium and coronary arteries, while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-565612/","orphanet_url":"https://www.orpha.net/en/disease/detail/565612","names":{"fr":{"name":"Cardiomyovasculopathie primaire à surcharge lipidique","synonyms":["Maladie à surcharge lipidique avec atteinte cardiovasculaire primaire sévère","P-TGCV"],"definition":"Erreur innée du métabolisme rare caractérisée par une accumulation massive de triglycérides dans le myocarde et les artères coronaires, alors que les taux de triglycérides plasmatiques sont normaux. Les patients se présentent à l'âge adulte avec des signes et des symptômes de coronaropathie et d'insuffisance cardiaque grave. L'association avec une myopathie des muscles squelettiques est fréquente. La formation de vacuoles est typiquement observée dans les leucocytes polymorphonucléaires."},"de":{"name":"Primäre Neutralfett-Speicherkrankheit mit Kardiomyovaskulopathie","synonyms":["P-TGCV","Primäre Neutralfett-Speicherkrankheit mit schwerer kardiovaskulärer Beteiligung","Triglycerid-Speicher-Kardiomyovaskulopathie, primäre"],"definition":"Eine seltene angeborene Stoffwechselstörung, die durch eine massive Anhäufung von Triglyceriden im Herzmuskel und in den Herzkranzgefäßen gekennzeichnet ist, während die Triglyceridwerte im Plasma normal sind. Die Patienten treten im Erwachsenenalter mit Anzeichen und Symptomen einer koronaren Herzkrankheit und schwerer Herzinsuffizienz auf. Eine begleitende Skelettmuskelerkrankung ist häufig. Typischerweise wird eine Vakuolenbildung in polymorphkernigen Leukozyten beobachtet."},"es":{"name":"Vasculopatía miocárdica primaria por depósito de triglicéridos","synonyms":["P-TGCV","Enfermedad primaria por depósito de lípidos neutros con afectación cardiovascular grave"],"definition":"Es un error congénito del metabolismo poco frecuente caracterizado por el acúmulo masivo de triglicéridos en el miocardio y las arterias coronarias, mientras que los niveles de triglicéridos en plasma son normales. Los pacientes se presentan en la edad adulta con signos y síntomas de enfermedad de las arterias coronarias e insuficiencia cardíaca grave. La miopatía esquelética concomitante es frecuente. Típicamente se observa formación de vacuolas en leucocitos polimorfonucleares."},"it":{"name":"Cardiomiovasculopatia primitiva da deposito di trigliceridi","synonyms":["Malattia da accumulo di lipidi neutri con grave coinvolgimento cardiovascolare"]},"nl":{"name":"Primaire cardiomyovasculopathie door depositie van triglyceriden","synonyms":["P-TGCV","Primaire neutrale lipidestapelingsziekte met ernstige cardiovasculaire betrokkenheid"],"definition":"Een zeldzaam aangeboren defect van stofwisseling, gekenmerkt door massale accumulatie van triglyceriden in myocard en kransslagaders, terwijl triglyceridegehaltes in plasma normaal zijn. Patiënten presenteren zich in de volwassenheid met verschijnselen en symptomen van kransslagaderziekte en ernstig hartfalen. Concomitante skeletale myopathie is gangbaar. Doorgaans wordt vorming van vacuolen in polymorfonucleaire leukocyten waargenomen."},"pt":{"name":"Cardiomiovasculopatia primária por deposição de triglicerídeos","synonyms":["Doença de armazenamento de lípidos neutros com envolvimento cardiovascular grave","TGCV"],"definition":"Erro inato do metabolismo raro caracterizado por acumulação maciça de triglicéridos no miocárdio e nas artérias coronárias, enquanto os níveis plasmáticos de triglicéridos são normais. Os doentes apresentam na idade adulta sinais e sintomas de doença arterial coronária e insuficiência cardíaca grave. É comum miopatia esquelética concomitante. É tipicamente observada formação de vacúolos em leucócitos polimorfonucleares."},"pl":{"name":"Kardiomiowaskulopatia z depozytem trójglicerydów","synonyms":["Waskulopatia serca i mięśni ze złogami trójglicerydów","Pierwotna kardiomiowaskulopatia ze złogami trójglicerydów"]},"cs":{"name":"Kardiomyovaskulopatie s primárními triglyceridovými depozity","synonyms":["P-TGCV","Primary neutral lipid storage disease with severe cardiovascular involvement"]},"uk":{"name":"Первинна кардіоміоваскулопатія з відкладенням тригліцеридів","synonyms":["Хвороба накопичення нейтральних ліпідів з тяжким ураженням серцево-судинної системи","TGCV"],"definition":"A rare inborn error of metabolism characterized by massive accumulation of triglycerides in the myocardium and coronary arteries, while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed."},"zh":{"name":"甘油三酯沉积型心肌病","synonyms":["中性脂质贮积病伴重度心血管受累"]},"tr":{"name":"Trigliserid deposu kardiyomiyovasküleropati","synonyms":["TGCV","Ağır kardiyovasküler tutulumu ile seyreden nötr lipid depo hastalığı"]}},"xrefs":[{"source":"ICD-10","code":"E75.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035423","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680124","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":692305,"name":"Triglyceride deposit cardiomyovasculopathy","classifications":[146,150,156,181,233]}],"children":[],"genes":[{"symbol":"PNPLA2","name":"patatin like domain 2, triacylglycerol lipase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29539587[PMID]_31186072[PMID]","hgnc":"30802","ensembl":"ENSG00000177666","omim":"609059","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_31186072[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-11","source":"32564019[PMID]_31186072[PMID]_24836204[PMID]","terms":[{"hpo":"HP:0031331","label":"Abnormal cardiomyocyte morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009058","label":"Increased muscle lipid content","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003756","label":"Skeletal myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001922","label":"Vacuolated lymphocytes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001430","label":"Abnormality of the calf musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001435","label":"Abnormality of the shoulder girdle musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005145","label":"Coronary artery stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009805","label":"Low-output congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032141","label":"Precordial pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011123","label":"Inflammatory abnormality of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031684","label":"Renal artery atherosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Excluded (0%)","criteria":null}]}}