{"Name":"Atrial conduction disease","DiseaseID__c":"GARD:0017729","id":17729,"encodedName":"atrial-conduction-disease","IsDeleted":false,"Disease_Name_Full__c":"Atrial conduction disease","Xref_IDs__c":"C4015285; MEDGEN:863722; MONDO:0014500; OMIM:616117; ORPHA:436242","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014500","Disease_Description__c":"Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted.","GARD_Name__c":"Atrial conduction disease","GARD_Synonym__c":"cardiac conduction disease with or without cardiomyopathy 1; cardiac conduction disease with or without dilated cardiomyopathy; familial atrial tachyarrhythmia-infra-hisian cardiac conduction disease","Curated_Disease_Description_Source__c":"ORPHA:436242","Curated_Disease_Description__c":"A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:436242","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014500","ORPHANET_ID__c":"ORPHA:436242","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de conducción cardíaca infrahisiana-taquiarritmia auricular hereditaria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de conducción cardíaca infrahisiana-taquiarritmia auricular hereditaria","Spanish_GARD_Synonym__c":null,"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":"A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood.","Curated_Disease_Description_Source__c":"ORPHA:436242","GARD_Synonym__c":"cardiac conduction disease with or without cardiomyopathy 1; cardiac conduction disease with or without dilated cardiomyopathy; familial atrial tachyarrhythmia-infra-hisian cardiac conduction disease","Name":"Atrial conduction disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:436242"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/436242","Source__c":"C4015285","Xref__c":"ORPHA:436242"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4015285","Source__c":"C4015285","Xref__c":"C4015285"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=863722","Source__c":"C4015285","Xref__c":"MEDGEN:863722"},{"URL__c":"https://www.omim.org/entry/616117","Source__c":"C4015285; ORPHA:436242","Xref__c":"OMIM:616117"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014500","Source__c":"GARD:0017729","Xref__c":"MONDO:0014500"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TNNI3K","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616117","Feature__r":{"HPO_Description__c":"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001644","HPO_Synonym__c":"Cardiomyopathy, dilated; Congestive cardiomyopathy; DCM; Stretched and thinned heart muscle","HPO_Name__c":"Dilated cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616117","Feature__r":{"HPO_Description__c":"A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005184","HPO_Name__c":"Prolonged QTc interval","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"OMIM:616117","Feature__r":{"HPO_Description__c":"An episodic form of supraventricular tachycardia with abrupt onset and termination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004763","HPO_Synonym__c":"Episodic supraventricular tachycardia; PSVT","HPO_Name__c":"Paroxysmal supraventricular tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616117","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616117","Feature__r":{"HPO_Description__c":"Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001688","HPO_Name__c":"Sinus bradycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616117","HPO_Frequency__c":"Uncommon (<1-4%)","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":"OMIM:616117","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":"OMIM:616117","Feature__r":{"HPO_Description__c":"A rapid heartrate that exceeds the range of the normal resting heartrate for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001649","HPO_Synonym__c":"Fast heart rate; Heart racing; Racing heart","HPO_Name__c":"Tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616117","Feature__r":{"HPO_Description__c":"Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006682","HPO_Synonym__c":"Extra heart beat; Premature ventricular beat; Premature ventricular contractions; Ventricular ectopics; Ventricular extrasystoles; Ventricular premature beat","HPO_Name__c":"Premature ventricular contraction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616117","Feature__r":{"HPO_Description__c":"Conduction block in the anterior division of the left bundle branch of the bundle of His.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011711","HPO_Synonym__c":"Left anterior hemiblock","HPO_Name__c":"Left anterior fascicular block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616117","Feature__r":{"HPO_Description__c":"A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011712","HPO_Synonym__c":"Right bundle branch block; Right bundle-branch block","HPO_Name__c":"Complete right bundle branch block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616117","Feature__r":{"HPO_Description__c":"A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001692","HPO_Name__c":"Atrial arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616117","Feature__r":{"HPO_Description__c":"A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004749","HPO_Name__c":"Atrial flutter","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Cardiology","Clinical Cardiac Electrophysiology"]},"synonyms":["cardiac conduction disease with or without cardiomyopathy 1"," cardiac conduction disease with or without dilated cardiomyopathy"," familial atrial tachyarrhythmia-infra-hisian cardiac conduction disease"]}