{"Name":"Atrial septal defect, ostium secundum type","DiseaseID__c":"GARD:0005865","id":5865,"encodedName":"atrial-septal-defect-ostium-secundum-type","IsDeleted":false,"Disease_Name_Full__c":"Atrial septal defect, ostium secundum type","Xref_IDs__c":"C0344724; MEDGEN:91034; MONDO:0020434; ORPHA:99103","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"GARD:0005865","Disease_Description__c":"An Ostium secundum atrial septal defect is a type of congenital heart defect called an atrial septal defect (ASD). An ASD is a hole in the wall (septum) between the two upper chambers of the heart (the atria). ASDs can be classified by location. An ostium secundum ASD is a hole in the center of the atrial septum. Normally, the right side of the heart pumps oxygen-poor blood to the lungs, while the left side pumps oxygen-rich blood to the body. An ASD allows blood from both sides to mix, causing the heart to work less efficiently. A small hole may not cause any symptoms or problems. A larger hole can eventually cause symptoms such as shortness of breath, respiratory infections, fainting, irregular heart rhythms or fatigue after mild activity. Larger ASDs can also ultimately lead to pulmonary artery hypertension, right ventricular hypertrophy (enlargement); SVT, or heart failure. Most cases of ASD are not inherited and occur by chance. Some cases appear to have autosomal dominant inheritance.","GARD_Name__c":"Atrial septal defect, ostium secundum type","GARD_Synonym__c":"2 asd - secundum atrial septal defect; asd ii; asd ii - secundum atrial septal defect; asd, ostium secundum type; asd2 - secundum atrial septal defect; atrial septal defect of fossa ovalis; atrial septal defect within oval fossa; fossa ovalis defect; ostium secundum atrial septal defect; ostium secundum defect; ostium secundum type atrial septal defect; patent ostium secundum; secundum atrial septal defect","Curated_Disease_Description_Source__c":"GARD:0005865","Curated_Disease_Description__c":"A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:99103","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020434","ORPHANET_ID__c":"ORPHA:99103","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Comunicación interauricular, tipo ostium secundum","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"comunicación interauricular, tipo ostium secundum","Spanish_GARD_Synonym__c":"cia, tipo ostium secundum","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 kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.","Curated_Disease_Description_Source__c":"GARD:0005865","GARD_Synonym__c":"2 asd - secundum atrial septal defect; asd ii; asd ii - secundum atrial septal defect; asd, ostium secundum type; asd2 - secundum atrial septal defect; atrial septal defect of fossa ovalis; atrial septal defect within oval fossa; fossa ovalis defect; ostium secundum atrial septal defect; ostium secundum defect; ostium secundum type atrial septal defect; patent ostium secundum; secundum atrial septal defect","Name":"Atrial septal defect, ostium secundum type","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Heart Association","Website__c":"https://www.heart.org"},{"Account_Name__c":"The Children's Heart Foundation","Website__c":"https://www.childrensheartfoundation.org/"},{"Account_Name__c":"World Heart Federation","Website__c":"https://world-heart-federation.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":"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":"Infancy","Provided_By__c":"ORPHA:99103"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:99103"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:99103"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005865","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/99103","Source__c":"C0344724; MONDO:0020434; ORPHA:99103","Xref__c":"ORPHA:99103"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=91034","Source__c":"C0344724","Xref__c":"MEDGEN:91034"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0344724","Source__c":"C0344724","Xref__c":"C0344724"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=204315000","Source__c":"C0344724","Xref__c":"204315000"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001684","Source__c":"C0344724","Xref__c":"HP:0001684"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020434","Source__c":"GARD:0005865","Xref__c":"MONDO:0020434"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GATA6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TLL1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TBX20","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MYH6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/myh6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NKX2-5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ACTC1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GATA4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CITED2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:99103","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of any part of the lung parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002090","HPO_Synonym__c":"Pneumonia","HPO_Name__c":"Pneumonia","Feature_System__c":"Respiratory system; 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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:99103","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031664","HPO_Name__c":"Systolic heart murmur","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99103","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Obstruction of conducting airways of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006536","HPO_Synonym__c":"Obstructive lung disease; 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All atrial impulses reach the ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011705","HPO_Name__c":"First degree atrioventricular block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99103","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002092","HPO_Synonym__c":"Increased blood pressure in blood vessels of lungs; Pulmonary artery hypertension","HPO_Name__c":"Pulmonary arterial hypertension","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99103","HPO_Frequency__c":"Occasional (5-29%)","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:99103","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the mitral valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001633","HPO_Synonym__c":"Abnormality of the mitral valve","HPO_Name__c":"Abnormal mitral valve morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99103","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99103","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011710","HPO_Synonym__c":"Bundle-branch block","HPO_Name__c":"Bundle branch block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99103","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002718","HPO_Synonym__c":"Bacterial infections, recurrent; Frequent bacterial infections; Frequent pyogenic infections; Increased susceptibility to bacterial infections; Recurrent bacterial infections; Recurrent major bacterial infections; Recurrent pyogenic infections; Susceptibility to pyogenic infection","HPO_Name__c":"Recurrent bacterial infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99103","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sensation of breathlessness in the recumbent position, relieved by sitting or standing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012764","HPO_Name__c":"Orthopnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99103","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005162","HPO_Synonym__c":"Impaired left ventricular function; Left ventricular dysfunction; Left ventricular failure; Left ventricular impairment; Left-sided heart failure","HPO_Name__c":"Abnormal left ventricular function","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99103","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:99103","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005133","HPO_Synonym__c":"Dilated heart right ventricle","HPO_Name__c":"Right ventricular dilatation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99103","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Congenital Heart Disease","Pediatrics"]},"synonyms":["2 asd - secundum atrial septal defect"," asd ii"," asd ii - secundum atrial septal defect"," asd, ostium secundum type"," asd2 - secundum atrial septal defect"," atrial septal defect of fossa ovalis"," atrial septal defect within oval fossa"," fossa ovalis defect"," ostium secundum atrial septal defect"," ostium secundum defect"," ostium secundum type atrial septal defect"," patent ostium secundum"," secundum atrial septal defect"]}