{"Name":"Short QT syndrome","DiseaseID__c":"GARD:0016650","id":16650,"encodedName":"short-qt-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Short QT syndrome","Xref_IDs__c":"698272007; C2348199; C580439; C71060; DOID:0050793; MEDGEN:378835; MONDO:0000453; OMIMPS:609620; ORPHA:51083","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:0000453","Disease_Description__c":"A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified","GARD_Name__c":"Short QT syndrome","GARD_Synonym__c":"familial short qt syndrome; genetic short qt syndrome; sqts; ventricular arrhythmia associated with short qt syndrome","Curated_Disease_Description_Source__c":"ORPHA:51083","Curated_Disease_Description__c":"Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia). In people with this condition, the heart (cardiac) muscle takes less time than usual to recharge between beats. The term 'short QT' refers to a specific pattern of heart activity that is detected with an electrocardiogram (EKG), which is a test used to measure the electrical activity of the heart. In people with this condition, the part of the heartbeat known as the QT interval is abnormally short. If untreated, the arrhythmia associated with short QT syndrome can lead to a variety of signs and symptoms, from dizziness and fainting (syncope) to cardiac arrest and sudden death. These signs and symptoms can occur any time from early infancy to old age. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year. However, some people with short QT syndrome never experience any health problems associated with the condition.","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:51083","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0000453","ORPHANET_ID__c":"ORPHA:51083","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de qt corto congénito","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de qt corto congénito","Spanish_GARD_Synonym__c":"sqtc congénito","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":"Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia). In people with this condition, the heart (cardiac) muscle takes less time than usual to recharge between beats. The term 'short QT' refers to a specific pattern of heart activity that is detected with an electrocardiogram (EKG), which is a test used to measure the electrical activity of the heart. In people with this condition, the part of the heartbeat known as the QT interval is abnormally short. If untreated, the arrhythmia associated with short QT syndrome can lead to a variety of signs and symptoms, from dizziness and fainting (syncope) to cardiac arrest and sudden death. These signs and symptoms can occur any time from early infancy to old age. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year. However, some people with short QT syndrome never experience any health problems associated with the condition.","Curated_Disease_Description_Source__c":"ORPHA:51083","GARD_Synonym__c":"familial short qt syndrome; genetic short qt syndrome; sqts; ventricular arrhythmia associated with short qt syndrome","Name":"Short QT syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"SADS Foundation","Website__c":"https://www.sads.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":"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":"All ages","Provided_By__c":"ORPHA:51083"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050793","Source__c":"MONDO:0000453","Xref__c":"DOID:0050793"},{"URL__c":"https://www.orpha.net/en/disease/detail/51083","Source__c":"C2348199; MONDO:0000453; ORPHA:51083","Xref__c":"ORPHA:51083"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS609620","Source__c":"MONDO:0000453","Xref__c":"OMIMPS:609620"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=698272007","Source__c":"C2348199; MONDO:0000453","Xref__c":"698272007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=378835","Source__c":"C2348199","Xref__c":"MEDGEN:378835"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2348199","Source__c":"C2348199","Xref__c":"C2348199"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C580439","Source__c":"MONDO:0000453","Xref__c":"C580439"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C71060","Source__c":"C2348199; MONDO:0000453","Xref__c":"C71060"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0000453","Source__c":"GARD:0016650","Xref__c":"MONDO:0000453"},{"URL__c":"https://medlineplus.gov/genetics/condition/short-qt-syndrome","Source__c":"GARD:0016650","Xref__c":"https://medlineplus.gov/genetics/condition/short-qt-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC4A3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KCNH2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnh2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CACNA2D1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KCNJ2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnj2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KCNQ1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kcnq1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:51083","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:51083","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:51083","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:51083","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:51083","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012232","HPO_Name__c":"Shortened QT interval","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"ORPHA:51083","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A slower than normal heart rate (in adults, slower than 60 beats per minute).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001662","HPO_Synonym__c":"Brachycardia; Slow heartbeats","HPO_Name__c":"Bradycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51083","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:51083","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001678","HPO_Synonym__c":"Interruption of electrical communication between upper and lower chambers of heart","HPO_Name__c":"Atrioventricular block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51083","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004308","HPO_Synonym__c":"Ventricular arrhythmias","HPO_Name__c":"Ventricular arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Cardiology","Clinical Cardiac Electrophysiology","Pediatrics"]},"synonyms":["familial short qt syndrome"," genetic short qt syndrome"," sqts"," ventricular arrhythmia associated with short qt syndrome"]}