{"Name":"Aneurysm of sinus of Valsalva","DiseaseID__c":"GARD:0000670","id":670,"encodedName":"aneurysm-of-sinus-of-valsalva","IsDeleted":false,"Disease_Name_Full__c":"Aneurysm of sinus of Valsalva","Xref_IDs__c":"54160000; C2239253; MEDGEN:853730; MONDO:0015197; ORPHA:1054","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015197","Disease_Description__c":"A rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.","GARD_Name__c":"Aneurysm of sinus of Valsalva","GARD_Synonym__c":"sinus of valsalva aneurysm","Curated_Disease_Description_Source__c":"MONDO:0015197","Curated_Disease_Description__c":"A rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:1054","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015197","ORPHANET_ID__c":"ORPHA:1054","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aneurisma de senos de valsalva","Spanish_Description_Source__c":"ORPHA:1054","Spanish_Description__c":"Es una malformación cardíaca congénita poco frecuente de uno o más senos aórticos consistentes en una dilatación que suele ser asintomática mientras no se rompa. En caso de rotura, se presenta con disnea de esfuerzo progresiva, cansancio y dolor torácico, pudiendo derivar en insuficiencia cardíaca congestiva en ausencia de tratamiento.","Spanish_Disease_Name__c":"aneurisma de senos de valsalva","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 one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.","Curated_Disease_Description_Source__c":"MONDO:0015197","GARD_Synonym__c":"sinus of valsalva aneurysm","Name":"Aneurysm of sinus of Valsalva","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:1054"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/1054","Source__c":"C2239253; MONDO:0015197; ORPHA:1054","Xref__c":"ORPHA:1054"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2239253","Source__c":"C2239253","Xref__c":"C2239253"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=853730","Source__c":"C2239253","Xref__c":"MEDGEN:853730"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=54160000","Source__c":"MONDO:0015197","Xref__c":"54160000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015197","Source__c":"GARD:0000670","Xref__c":"MONDO:0015197"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1054","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1054","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100749","HPO_Synonym__c":"Chest pain; Thoracic pain","HPO_Name__c":"Chest pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1054","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1054","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Low output of urine, clinically classified as an output below 300-500ml/day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100520","HPO_Name__c":"Oliguria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1054","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":"ORPHA:1054","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006689","HPO_Synonym__c":"Infective endocarditis","HPO_Name__c":"Bacterial endocarditis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1054","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:1054","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1054","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001659","HPO_Synonym__c":"Aortic insufficiency; Aortic valve regurgitation","HPO_Name__c":"Aortic regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1054","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030148","HPO_Synonym__c":"Cardiac murmur; Cardiac murmurs; Heart murmur; Heart murmurs","HPO_Name__c":"Heart murmur","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1054","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011645","HPO_Synonym__c":"Aortic sinus aneurysm","HPO_Name__c":"Dilatation of the sinus of Valsalva","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cardiology","Congenital Heart Disease","Vascular Medicine"],"Disease Category":["Congenital Abnormality"]},"synonyms":["sinus of valsalva aneurysm"]}