{"Name":"Familial idiopathic dilatation of the right atrium","DiseaseID__c":"GARD:0018735","id":18735,"encodedName":"familial-idiopathic-dilatation-of-the-right-atrium","IsDeleted":false,"Disease_Name_Full__c":"Familial idiopathic dilatation of the right atrium","Xref_IDs__c":"716773002; C4274283; MEDGEN:901482; MONDO:0015666; ORPHA:1677","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015666","Disease_Description__c":"A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.","GARD_Name__c":"Familial idiopathic dilatation of the right atrium","GARD_Synonym__c":"familial idiopathic dilatation of right atrium; familial idiopathic dilatation of the right atrium (disease); familial idiopathic dilation of right atrium","Curated_Disease_Description_Source__c":"MONDO:0015666","Curated_Disease_Description__c":"A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.","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:1677","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015666","ORPHANET_ID__c":"ORPHA:1677","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Dilatación idiopática de la aurícula derecha","Spanish_Description_Source__c":"ORPHA:1677","Spanish_Description__c":"Es una malformación cardíaca congénita poco frecuente de etiología desconocida caracterizada por una aurícula derecha extremadamente dilatada, que suele ser asintomática y se detecta de manera incidental en una ecocardiografía o radiografía torácica. Puede estar asociada ocasionalmente con otras anomalías tales como arritmias auriculares (p. ej., flúter o fibrilación auricular, taquicardia supraventricular), insuficiencia tricuspídea grave o trombo auricular que pueden derivar en complicaciones tromboembólicas potencialmente mortales.","Spanish_Disease_Name__c":"dilatación idiopática de la aurícula derecha","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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 congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.","Curated_Disease_Description_Source__c":"MONDO:0015666","GARD_Synonym__c":"familial idiopathic dilatation of right atrium; familial idiopathic dilatation of the right atrium (disease); familial idiopathic dilation of right atrium","Name":"Familial idiopathic dilatation of the right atrium","estimateUsa":""}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"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:1677"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/1677","Source__c":"C4274283; MONDO:0015666; ORPHA:1677","Xref__c":"ORPHA:1677"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716773002","Source__c":"C4274283; MONDO:0015666","Xref__c":"716773002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274283","Source__c":"C4274283","Xref__c":"C4274283"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=901482","Source__c":"C4274283","Xref__c":"MEDGEN:901482"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015666","Source__c":"GARD:0018735","Xref__c":"MONDO:0015666"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1677","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1677","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012664","HPO_Synonym__c":"Reduced ejection fraction","HPO_Name__c":"Reduced left ventricular ejection fraction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Imaging_Echocardiogram"}},{"Provided_By__c":"ORPHA:1677","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012398","HPO_Name__c":"Peripheral edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1677","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1677","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031665","HPO_Name__c":"Midsystolic murmur","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1677","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A heart murmur that occurs during the entire systolic phase from S1 to S2.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031667","HPO_Name__c":"Holosystolic murmur","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1677","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:1677","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005180","HPO_Synonym__c":"Tricuspid insufficiency; Tricuspid valve regurgitation","HPO_Name__c":"Tricuspid regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1677","HPO_Frequency__c":"Frequent (30-79%)","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:1677","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011995","HPO_Name__c":"Atrial septal dilatation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1677","HPO_Frequency__c":"Frequent (30-79%)","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:1677","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004757","HPO_Synonym__c":"Atrial fibrillation, paroxysmal; Intermittent atrial fibrillation; Paroxysmal AF","HPO_Name__c":"Paroxysmal atrial fibrillation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1677","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001667","HPO_Synonym__c":"Heart right ventricle hypertrophy","HPO_Name__c":"Right ventricular hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1677","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1677","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005345","HPO_Name__c":"Abnormal vena cava morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1677","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1677","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001640","HPO_Synonym__c":"Enlarged heart; Increased heart size","HPO_Name__c":"Cardiomegaly","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1677","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of a jugular vein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:3000042","HPO_Synonym__c":"Abnormality of jugular vein","HPO_Name__c":"Abnormal jugular vein morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1677","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the cardiac ventricular function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030872","HPO_Name__c":"Abnormal cardiac ventricular function","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1677","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the hepatic vasculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006707","HPO_Synonym__c":"Abnormality of liver blood vessels; Abnormality of the liver vasculature","HPO_Name__c":"Abnormality of the hepatic vasculature","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1677","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:1677","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increase in size of the right atrium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030718","HPO_Synonym__c":"Dilated right atrium; Enlarged heart right atrium; Right atrial dilatation","HPO_Name__c":"Right atrial enlargement","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1677","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an excessive amount of fluid in the pleural cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002202","HPO_Synonym__c":"Fluid around lungs","HPO_Name__c":"Pleural effusion","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1677","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005178","HPO_Name__c":"Complete heart block with narrow QRS complexes","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Congenital Heart Disease","Pediatrics"]},"synonyms":["familial idiopathic dilatation of right atrium"," familial idiopathic dilatation of the right atrium (disease)"," familial idiopathic dilation of right atrium"]}