Phenotypes associated with the disease short QT syndrome type 3 (OMIM:609622):
- Shortened QT interval (HP:0012232): Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). Evidence: PCS. Frequency: 4/4. (PMID:22155372;PMID:15761194;PMID:23440193)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/1. (PMID:15761194)
- Mildly reduced left ventricular ejection fraction (HP:0012663): A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent. Evidence: PCS. Frequency: 1/4. (PMID:22155372;PMID:15761194;PMID:23440193)
- Presyncope (HP:0031972): Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause. Evidence: PCS. Frequency: 1/4. (PMID:22155372;PMID:15761194;PMID:23440193)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: PCS. Frequency: 1/4. (PMID:22155372;PMID:15761194;PMID:23440193)
- 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: 2/4. (PMID:22155372;PMID:15761194;PMID:23440193)
- 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: 0/4. (PMID:22155372;PMID:15761194;PMID:23440193)
- 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:15761194)