{"Name":"Congenital heart block","DiseaseID__c":"GARD:0006164","id":6164,"encodedName":"congenital-heart-block","IsDeleted":false,"Disease_Name_Full__c":"Congenital heart block","Xref_IDs__c":"46619002; C0149530; C535758; DOID:990; MEDGEN:57432; MONDO:0009326; OMIM:234700; ORPHA:60041; Q24.6","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009326","Disease_Description__c":"Heart block that occurs on or before 28 days of life.","GARD_Name__c":"Congenital heart block","GARD_Synonym__c":"congenital atrioventricular block","Curated_Disease_Description_Source__c":"GARD:0006164","Curated_Disease_Description__c":"Congenital heart block is a rare condition that affects the heart's electrical system, which controls and coordinates its pumping function. In infants affected by this condition, the electrical signal that spreads across the heart and causes it to contract and pump blood, is slowed or completely interrupted. This can interfere with the heart's normal rate and rhythm and may significantly limit the ability of the heart to pump blood to the rest of the body. Congenital heart block generally develops between 18 and 33 weeks of pregnancy. The underlying cause of the condition is poorly understood. However, mothers with lupus or another autoimmune diseases and parents with congenital heart disorders have an increased risk of having a child with a Congenital heart block.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:60041","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009326","ORPHANET_ID__c":"ORPHA:60041","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Bloqueo auriculoventricular completo congénito","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"bloqueo auriculoventricular completo congénito","Spanish_GARD_Synonym__c":"bloqueo atrioventricular congénito; bloqueo cardíaco congénito","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":"Congenital heart block is a rare condition that affects the heart's electrical system, which controls and coordinates its pumping function. In infants affected by this condition, the electrical signal that spreads across the heart and causes it to contract and pump blood, is slowed or completely interrupted. This can interfere with the heart's normal rate and rhythm and may significantly limit the ability of the heart to pump blood to the rest of the body. Congenital heart block generally develops between 18 and 33 weeks of pregnancy. The underlying cause of the condition is poorly understood. However, mothers with lupus or another autoimmune diseases and parents with congenital heart disorders have an increased risk of having a child with a Congenital heart block.","Curated_Disease_Description_Source__c":"GARD:0006164","GARD_Synonym__c":"congenital atrioventricular block","Name":"Congenital heart block","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Fetal Health Foundation","Website__c":"https://www.fetalhealthfoundation.org/"},{"Account_Name__c":"Autoimmune Association","Website__c":"https://autoimmune.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":"Clinical Cardiac Electrophysiology","Tag_Category__c":"Specialist","curated_tag_name":"Clinical cardiac electrophysiology"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:60041"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:60041"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0149530"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/234700","Source__c":"C0149530; MONDO:0009326; ORPHA:60041","Xref__c":"OMIM:234700"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0149530","Source__c":"C0149530","Xref__c":"C0149530"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A990","Source__c":"MONDO:0009326","Xref__c":"DOID:990"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535758","Source__c":"MONDO:0009326","Xref__c":"C535758"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q24.6","Source__c":"MONDO:0009326","Xref__c":"Q24.6"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=46619002","Source__c":"C0149530; MONDO:0009326","Xref__c":"46619002"},{"URL__c":"https://www.orpha.net/en/disease/detail/60041","Source__c":"C0149530; MONDO:0009326; ORPHA:60041","Xref__c":"ORPHA:60041"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=57432","Source__c":"C0149530","Xref__c":"MEDGEN:57432"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009326","Source__c":"GARD:0006164","Xref__c":"MONDO:0009326"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:60041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A slower than normal heart rate (in adults, slower than 60 beats per minute).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001662","HPO_Synonym__c":"Brachycardia; Slow heartbeats","HPO_Name__c":"Bradycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60041","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any functional abnormality of a cardiac valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031653","HPO_Name__c":"Abnormal heart valve physiology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001612","HPO_Name__c":"Weak cry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diminished amniotic fluid volume in pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001562","HPO_Synonym__c":"Low levels of amniotic fluid; Maternal oligohydramnios","HPO_Name__c":"Oligohydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Vaginal birth after Caesarean (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030365","HPO_Name__c":"Vaginal birth after Caesarean","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60041","HPO_Frequency__c":"Occasional (5-29%)","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:60041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003546","HPO_Synonym__c":"Decreased ability to exercise; Inability to exercise; Low exercise endurance; Poor exercise tolerance","HPO_Name__c":"Exercise intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60041","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001709","HPO_Synonym__c":"Complete heart block","HPO_Name__c":"Third degree atrioventricular block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60041","HPO_Frequency__c":"Uncommon (<1-4%)","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:60041","HPO_Frequency__c":"Occasional (5-29%)","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:60041","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:60041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally pale skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000980","HPO_Name__c":"Pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60041","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:60041","HPO_Frequency__c":"Occasional (5-29%)","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:60041","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033113","HPO_Synonym__c":"Triple rhythm","HPO_Name__c":"Gallop rhythm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60041","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001706","HPO_Name__c":"Endocardial fibroelastosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60041","HPO_Frequency__c":"Always (100%)","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:60041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60041","HPO_Frequency__c":"Occasional (5-29%)","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:60041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001789","HPO_Name__c":"Hydrops fetalis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60041","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). 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:60041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030830","HPO_Synonym__c":"Crepitations; Rales","HPO_Name__c":"Crackles","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60041","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:60041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011706","HPO_Name__c":"Second degree atrioventricular block","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60041","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid within the pericardium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001698","HPO_Synonym__c":"Fluid around heart; Pericardial effusions","HPO_Name__c":"Pericardial effusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Cardiology","Clinical Cardiac Electrophysiology","Pediatrics"]},"synonyms":["congenital atrioventricular block"]}