Phenotypes associated with the disease sick sinus syndrome 1 (OMIM:608567):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:14523039)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. (PMID:14523039)
- Sick sinus syndrome (HP:0011704): An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress. Evidence: PCS. (PMID:14523039)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. (PMID:14523039)
- Ventricular escape rhythm (HP:0005155): A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms). Evidence: PCS. (PMID:14523039)
- Absent P wave (HP:0033122): The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present. Evidence: PCS. (PMID:14523039)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:14523039)
- Prolonged QT interval (HP:0001657): Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). Evidence: PCS. (PMID:14523039)
- Atrioventricular block (HP:0001678): Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles. Evidence: PCS. (PMID:14523039)
- Sinus bradycardia (HP:0001688): Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. Evidence: PCS. (PMID:14523039)