Phenotypes associated with the disease progressive familial heart block, type 1A (OMIM:113900):
- Left anterior fascicular block (HP:0011711): Conduction block in the anterior division of the left bundle branch of the bundle of His. Evidence: PCS. Frequency: 3/15. (PMID:10471492)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. (OMIM:113900)
- Complete right bundle branch block (HP:0011712): 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. Evidence: PCS. Frequency: 5/15. (PMID:10471492)
- Left posterior fascicular block (HP:0005172): Conduction block in the posterior division of the left bundle branch of the bundle of His. Evidence: PCS. Frequency: 3/15. (PMID:10471492)
- Complete heart block with broad QRS complexes (HP:0005170): A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex. Evidence: PCS. (OMIM:113900)
- Syncope (HP:0001279): 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. Evidence: PCS. (PMID:10471492)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:10471492)
- Sudden cardiac death (HP:0001645): The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). Evidence: PCS. (OMIM:113900)
- Prolonged PR interval (HP:0012248): Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex). Evidence: PCS. Frequency: 8/15. (PMID:10471492)
- Sudden death (HP:0001699): Rapid and unexpected death. Evidence: TAS. (OMIM:113900)