{"Name":"Catecholaminergic polymorphic ventricular tachycardia","DiseaseID__c":"GARD:0004421","id":4421,"encodedName":"catecholaminergic-polymorphic-ventricular-tachycardia","IsDeleted":false,"Disease_Name_Full__c":"Catecholaminergic polymorphic ventricular tachycardia","Xref_IDs__c":"419671004; C536334; C5574922; C99936; DOID:0060674; MEDGEN:1803763; MONDO:0017990; NBK1289; OMIMPS:604772; ORPHA:3286","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0017990","Disease_Description__c":"A rare, severe genetic arrhythmogenic disorder of the structurally normal heart characterized by catecholamine-induced ventricular tachycardia (VT) manifesting as syncope and sudden death in young individuals.","GARD_Name__c":"Catecholaminergic polymorphic ventricular tachycardia","GARD_Synonym__c":"bidirectional tachycardia induced by catecholamine; bidirectional ventricular tachycardia induced by catecholamine; catecholamine-induced polymorphic ventricular tachycardia; cpvt; cvpt; double tachycardia induced by catecholamines; malignant paroxysmal ventricular tachycardia; multifocal ventricular premature beats; polymorphic ventricular tachycardia induced by catecholamines; ventricular tachycardia, catecholaminergic polymorphic","Curated_Disease_Description_Source__c":"GARD:0004421","Curated_Disease_Description__c":"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast heartbeat called ventricular tachycardia. Episodes of ventricular tachycardia can cause light-headedness, dizziness, and fainting (syncope). In people with CPVT, these episodes typically begin in childhood. If CPVT is not recognized and treated, an episode of ventricular tachycardia may cause the heart to stop beating (cardiac arrest), leading to sudden death. Researchers suspect that CPVT may be a significant cause of sudden death in children and young adults without recognized heart abnormalities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:3286","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017990","ORPHANET_ID__c":"ORPHA:3286","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Taquicardia ventricular polimórfica catecolaminérgica","Spanish_Description_Source__c":"ORPHA:3286","Spanish_Description__c":"Es un trastorno arritmogénico grave del corazón estructuralmente normal, de origen genético y poco frecuente, caracterizado por taquicardia ventricular (TV) inducida por catecolaminas que se manifiesta como síncope y muerte súbita en personas jóvenes.","Spanish_Disease_Name__c":"taquicardia ventricular polimórfica catecolaminérgica","Spanish_GARD_Synonym__c":"cpvt; taquicardia ventricular bidireccional inducida por catecolaminas; taquicardia ventricular paroxística maligna; taquicardia ventricular polimórfica inducida por catecolaminas","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":"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast heartbeat called ventricular tachycardia. Episodes of ventricular tachycardia can cause light-headedness, dizziness, and fainting (syncope). In people with CPVT, these episodes typically begin in childhood. If CPVT is not recognized and treated, an episode of ventricular tachycardia may cause the heart to stop beating (cardiac arrest), leading to sudden death. Researchers suspect that CPVT may be a significant cause of sudden death in children and young adults without recognized heart abnormalities.","Curated_Disease_Description_Source__c":"GARD:0004421","GARD_Synonym__c":"bidirectional tachycardia induced by catecholamine; bidirectional ventricular tachycardia induced by catecholamine; catecholamine-induced polymorphic ventricular tachycardia; cpvt; cvpt; double tachycardia induced by catecholamines; malignant paroxysmal ventricular tachycardia; multifocal ventricular premature beats; polymorphic ventricular tachycardia induced by catecholamines; ventricular tachycardia, catecholaminergic polymorphic","Name":"Catecholaminergic polymorphic ventricular tachycardia","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"SADS Foundation","Website__c":"https://www.sads.org/"},{"Account_Name__c":"Syncope Trust and Reflex Anoxic Seizures","Website__c":"https://www.heartrhythmalliance.org/stars/uk"}],"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":"Clinical Cardiac Electrophysiology","Tag_Category__c":"Specialist","curated_tag_name":"Clinical cardiac electrophysiology"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:3286"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:3286"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:3286"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1631597"},{"Type__c":"GTR","Curie__c":"MEDGEN:C4053736"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004421","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1289","Source__c":"Gene Review","Xref__c":"NBK1289"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060674","Source__c":"MONDO:0017990","Xref__c":"DOID:0060674"},{"URL__c":"https://www.orpha.net/en/disease/detail/3286","Source__c":"C5574922; MONDO:0017990; ORPHA:3286","Xref__c":"ORPHA:3286"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536334","Source__c":"MONDO:0017990","Xref__c":"C536334"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5574922","Source__c":"C5574922","Xref__c":"C5574922"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=419671004","Source__c":"C5574922; MONDO:0017990","Xref__c":"419671004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1803763","Source__c":"C5574922","Xref__c":"MEDGEN:1803763"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS604772","Source__c":"MONDO:0017990","Xref__c":"OMIMPS:604772"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000098850","Source__c":"C5574922","Xref__c":"D000098850"},{"URL__c":"https://medlineplus.gov/genetics/condition/catecholaminergic-polymorphic-ventricular-tachycardia","Source__c":"GARD:0004421","Xref__c":"https://medlineplus.gov/genetics/condition/catecholaminergic-polymorphic-ventricular-tachycardia"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017990","Source__c":"GARD:0004421","Xref__c":"MONDO:0017990"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99936","Source__c":"C5574922","Xref__c":"C99936"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRDN","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TECRL","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CALM1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RYR2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ryr2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CASQ2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/casq2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3286","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001279","HPO_Synonym__c":"Fainting spell","HPO_Name__c":"Syncope","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3286","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004755","HPO_Synonym__c":"Supraventricular tachyarrhythmia; SVT","HPO_Name__c":"Supraventricular tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3286","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005110","HPO_Synonym__c":"Quivering upper heart chambers resulting in irregular heartbeat","HPO_Name__c":"Atrial fibrillation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3286","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abrupt loss of heart function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001695","HPO_Synonym__c":"Heart stops beating","HPO_Name__c":"Cardiac arrest","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3286","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001962","HPO_Synonym__c":"Heart palpitations; Missed heart beat; Palpitations; Skipped heart beat","HPO_Name__c":"Palpitations","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3286","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031677","HPO_Name__c":"Polymorphic ventricular tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3286","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3286","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001663","HPO_Name__c":"Ventricular fibrillation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3286","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001645","HPO_Synonym__c":"Premature sudden cardiac death; Sudden cardiac death","HPO_Name__c":"Sudden cardiac death","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3286","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004756","HPO_Name__c":"Ventricular tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Cardiology","Clinical Cardiac Electrophysiology","Pediatrics"]},"synonyms":["bidirectional tachycardia induced by catecholamine"," bidirectional ventricular tachycardia induced by catecholamine"," catecholamine-induced polymorphic ventricular tachycardia"," cpvt"," cvpt"," double tachycardia induced by catecholamines"," malignant paroxysmal ventricular tachycardia"," multifocal ventricular premature beats"," polymorphic ventricular tachycardia induced by catecholamines"," ventricular tachycardia, catecholaminergic polymorphic"]}