{"Name":"Isolated right ventricular hypoplasia","DiseaseID__c":"GARD:0004721","id":4721,"encodedName":"isolated-right-ventricular-hypoplasia","IsDeleted":false,"Disease_Name_Full__c":"Isolated right ventricular hypoplasia","Xref_IDs__c":"718135001; C1848587; C535682; MEDGEN:336377; MONDO:0010179; OMIM:277200; ORPHA:439","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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010179","Disease_Description__c":"Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation (see this term) characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication (see these terms) and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.","GARD_Name__c":"Isolated right ventricular hypoplasia","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0010179","Curated_Disease_Description__c":"Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:439","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010179","ORPHANET_ID__c":"ORPHA:439","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipoplasia ventricular derecha aislada","Spanish_Description_Source__c":"ORPHA:439","Spanish_Description__c":"Es una malformación cardíaca congénita poco frecuente caracterizada por un escaso desarrollo del ventrículo derecho, junto con foramen oval permeable o comunicación interauricular, y válvulas pulmonares y tricúspides normales. Se manifiesta con cianosis, insuficiencia cardíaca congestiva y, en casos graves, con fallecimiento en la primera infancia.","Spanish_Disease_Name__c":"hipoplasia ventricular derecha aislada","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":"Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.","Curated_Disease_Description_Source__c":"MONDO:0010179","Name":"Isolated right ventricular hypoplasia","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:439"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:439"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=336377","Source__c":"C1848587","Xref__c":"MEDGEN:336377"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718135001","Source__c":"C1848587; MONDO:0010179","Xref__c":"718135001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1848587","Source__c":"C1848587","Xref__c":"C1848587"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535682","Source__c":"MONDO:0010179","Xref__c":"C535682"},{"URL__c":"https://www.orpha.net/en/disease/detail/439","Source__c":"C1848587; MONDO:0010179; ORPHA:439","Xref__c":"ORPHA:439"},{"URL__c":"https://www.omim.org/entry/277200","Source__c":"C1848587; MONDO:0010179; ORPHA:439","Xref__c":"OMIM:277200"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010179","Source__c":"GARD:0004721","Xref__c":"MONDO:0010179"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:439","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally low level of blood oxygen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012418","HPO_Synonym__c":"Low blood oxygen level","HPO_Name__c":"Hypoxemia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:439","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001655","HPO_Synonym__c":"Persistent foramen ovale; PFO","HPO_Name__c":"Patent foramen ovale","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:439","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:439","HPO_Frequency__c":"Frequent (30-79%)","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:439","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:439","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001694","HPO_Name__c":"Right-to-left shunt","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:439","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001217","HPO_Synonym__c":"Clubbing of fingers and toes; Digital clubbing","HPO_Name__c":"Clubbing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:439","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:439","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000961","HPO_Synonym__c":"Blue discoloration of the skin","HPO_Name__c":"Cyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:439","HPO_Frequency__c":"Occasional (5-29%)","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:439","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001708","HPO_Synonym__c":"Impaired right ventricular function; Right ventricular impairment; Right-sided heart failure","HPO_Name__c":"Right ventricular failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:439","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011623","HPO_Synonym__c":"Type 4 ventricular septal defect","HPO_Name__c":"Muscular ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:439","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:439","HPO_Frequency__c":"Very frequent (80-99%)","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:439","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010741","HPO_Synonym__c":"Edema of the lower limbs; Fluid accumulation in lower limbs; Leg edema; Lower leg swelling; Peripheral edema of lower extremity","HPO_Name__c":"Pedal edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:439","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:439","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:439","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012383","HPO_Name__c":"Bidirectional shunt","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:439","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An impairment of the electrical continuity between the atria and ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005150","HPO_Name__c":"Abnormal atrioventricular conduction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cardiology","Congenital Heart Disease","Pediatrics"],"Disease Category":["Congenital Abnormality"]},"synonyms":[""]}