Phenotypes associated with the disease sick sinus syndrome 2, autosomal dominant (OMIM:163800):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: IEA. (OMIM:163800)
- Cardiac arrest (HP:0001695): An abrupt loss of heart function. Evidence: PCS. Frequency: 1/1. (PMID:15123648)
- Atrial fibrillation (HP:0005110): An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. Evidence: IEA. (OMIM:163800)
- Abnormal QT interval (HP:0031547): Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). Evidence: PCS. Frequency: 0/1. (PMID:25145518)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:25145518)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/1. (PMID:15123648)
- Chronotropic incompetence (HP:0033992): Inability of the heart to increase its rate commensurate with increased activity or demand. Evidence: PCS. Frequency: 1/1. (PMID:25145518)
- Torsade de pointes (HP:0001664): A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG. Evidence: PCS. Frequency: 1/1. (PMID:15123648)
- Paroxysmal atrial fibrillation (HP:0004757): Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously. Evidence: PCS. Frequency: 2/2. (PMID:12750403;PMID:25145518)
- 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. Frequency: 0/7. (PMID:17646576)
- Sinus bradycardia (HP:0001688): Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. Evidence: PCS. Frequency: 13/13. (PMID:12750403;PMID:17646576;PMID:15123648;PMID:25145518)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 7/7. (PMID:17646576)
- Ventricular fibrillation (HP:0001663): Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. Evidence: PCS. Frequency: 1/1. (PMID:15123648)
- 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. Frequency: 1/1. (PMID:15123648)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 1/1. (PMID:12750403)
- First degree atrioventricular block (HP:0011705): 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. Evidence: PCS. Frequency: 1/1. (PMID:25145518)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 1/1. (PMID:12750403)
- Left ventricular noncompaction (HP:0030682): Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer. Evidence: PCS. Frequency: 6/14. (OMIM:163800;PMID:25145518)
- T-wave inversion (HP:0010872): An inversion of the T-wave (which is normally positive). Evidence: PCS. Frequency: 1/1. (PMID:25145518)
- Prolonged QTc interval (HP:0005184): 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. Evidence: PCS. Frequency: 1/8. (PMID:17646576;PMID:15123648)
- Ventricular bigeminy (HP:0034306): An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat. Evidence: PCS. Frequency: 1/1. (PMID:25145518)
- Polymorphic ventricular tachycardia (HP:0031677): A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat). Evidence: PCS. Frequency: 1/1. (PMID:15123648)
- Early young adult onset (HP:0025708): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. Frequency: 1/1. (PMID:15123648)
- Left ventricular hypertrophy (HP:0001712): Enlargement or increased size of the heart left ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:163800)
- Aortic regurgitation (HP:0001659): An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:163800)
- 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. Frequency: 5/6. (PMID:12750403;PMID:15123648;PMID:25145518)
- Mitral valve prolapse (HP:0001634): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: PCS. Frequency: 6/14. (OMIM:163800;PMID:25145518)
- 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:12750403)