{"Name":"Left ventricular noncompaction","DiseaseID__c":"GARD:0010985","id":10985,"encodedName":"left-ventricular-noncompaction","IsDeleted":false,"Disease_Name_Full__c":"Left ventricular noncompaction","Xref_IDs__c":"C1960469; C99544; DOID:0060480; HP:0030682; MEDGEN:450531; MONDO:0018901; OMIMPS:604169; ORPHA:54260","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018901","Disease_Description__c":"A rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.","GARD_Name__c":"Left ventricular noncompaction","GARD_Synonym__c":"left ventricular hypertrabeculation; left ventricular non-compaction cardiomyopathy; left ventricular non-compaction syndrome; left ventricular noncompaction (disease); lv non-compaction syndrome; lvnc; spongy myocardium","Curated_Disease_Description_Source__c":"GARD:0010985","Curated_Disease_Description__c":"Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly. Instead of the muscle being smooth and firm, the cardiac muscle in the left ventricle is thick and appears spongy. The abnormal cardiac muscle is weak and has an impaired ability to pump blood because it either cannot completely contract or it cannot completely relax. For the heart to pump blood normally, cardiac muscle must contract and relax fully. Some individuals with left ventricular noncompaction experience no symptoms at all; others have heart problems that can include sudden cardiac death. Additional signs and symptoms include abnormal blood clots, irregular heart rhythm (arrhythmia), a sensation of fluttering or pounding in the chest (palpitations), extreme fatigue during exercise (exercise intolerance), shortness of breath (dyspnea), fainting (syncope), swelling of the legs (lymphedema), and trouble laying down flat. Some affected individuals have features of other heart defects. Left ventricular noncompaction can be diagnosed at any age, from birth to late adulthood. Approximately two-thirds of individuals with left ventricular noncompaction develop heart failure.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:54260","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018901","ORPHANET_ID__c":"ORPHA:54260","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"No compactación del ventrículo izquierdo","Spanish_Description_Source__c":"ORPHA:54260","Spanish_Description__c":"Es una miocardiopatía poco frecuente caracterizada anatómicamente por trabeculaciones prominentes en ventrículo izquierdo y recesos intratrabeculares profundos que causan una disfunción sistólica y diastólica progresiva, anomalías de la conducción y, ocasionalmente, eventos tromboembólicos.","Spanish_Disease_Name__c":"no compactación del ventrículo izquierdo","Spanish_GARD_Synonym__c":"hipertrabeculación del ventrículo izquierdo; lvnc; miocardio esponjoso","Category_Linearization__c":"ORPHA:97929","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly. Instead of the muscle being smooth and firm, the cardiac muscle in the left ventricle is thick and appears spongy. The abnormal cardiac muscle is weak and has an impaired ability to pump blood because it either cannot completely contract or it cannot completely relax. For the heart to pump blood normally, cardiac muscle must contract and relax fully. Some individuals with left ventricular noncompaction experience no symptoms at all; others have heart problems that can include sudden cardiac death. Additional signs and symptoms include abnormal blood clots, irregular heart rhythm (arrhythmia), a sensation of fluttering or pounding in the chest (palpitations), extreme fatigue during exercise (exercise intolerance), shortness of breath (dyspnea), fainting (syncope), swelling of the legs (lymphedema), and trouble laying down flat. Some affected individuals have features of other heart defects. Left ventricular noncompaction can be diagnosed at any age, from birth to late adulthood. Approximately two-thirds of individuals with left ventricular noncompaction develop heart failure.","Curated_Disease_Description_Source__c":"GARD:0010985","GARD_Synonym__c":"left ventricular hypertrabeculation; left ventricular non-compaction cardiomyopathy; left ventricular non-compaction syndrome; left ventricular noncompaction (disease); lv non-compaction syndrome; lvnc; spongy myocardium","Name":"Left ventricular noncompaction","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cardiomyopathy Association","Website__c":"https://www.cardiomyopathy.org/"},{"Account_Name__c":"Children's Cardiomyopathy Foundation","Website__c":"https://www.childrenscardiomyopathy.org/"},{"Account_Name__c":"Hypertrophic Cardiomyopathy Association","Website__c":"https://www.4hcm.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Congenital Heart Disease","Tag_Category__c":"Specialist","curated_tag_name":"Congenital heart disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:54260"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1858725"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1960469"},{"Type__c":"GTR","Curie__c":"MEDGEN:C4021133"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010985","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/54260","Source__c":"C1960469; MONDO:0018901; ORPHA:54260","Xref__c":"ORPHA:54260"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060480","Source__c":"MONDO:0018901","Xref__c":"DOID:0060480"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=450531","Source__c":"C1960469","Xref__c":"MEDGEN:450531"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1960469","Source__c":"C1960469","Xref__c":"C1960469"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99544","Source__c":"MONDO:0018901","Xref__c":"C99544"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS604169","Source__c":"MONDO:0018901","Xref__c":"OMIMPS:604169"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018901","Source__c":"GARD:0010985","Xref__c":"MONDO:0018901"},{"URL__c":"https://medlineplus.gov/genetics/condition/left-ventricular-noncompaction","Source__c":"GARD:0010985","Xref__c":"https://medlineplus.gov/genetics/condition/left-ventricular-noncompaction"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030682","Source__c":"C1960469","Xref__c":"HP:0030682"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MIB1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MYH7B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TPM1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PRDM16","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TNNT2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tnnt2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MYH7","GHR_URL__c":"https://medlineplus.gov/genetics/gene/myh7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PKP2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pkp2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TBX20","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive","Mitochondrial inheritance","X-linked recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Cardiology","Congenital Heart Disease","Pediatrics"],"Account":["Cardiomyopathy"]},"synonyms":["left ventricular hypertrabeculation"," left ventricular non-compaction cardiomyopathy"," left ventricular non-compaction syndrome"," left ventricular noncompaction (disease)"," lv non-compaction syndrome"," lvnc"," spongy myocardium"]}