Phenotypes associated with the disease ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (OMIM:115000):
- 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. (PMID:33536282)
- Aborted sudden cardiac death (HP:0031628): Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it. Evidence: PCS. (PMID:33536282)
- Polymorphic and polytopic ventricular extrasystoles (HP:0006696). Evidence: PCS. (PMID:14115011)
- Left ventricular noncompaction cardiomyopathy (HP:0011664): Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates. Evidence: PCS. Frequency: 2/46. (PMID:33536282)
- 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: 1/46. (PMID:33536282)
- 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:33536282)
- 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. (PMID:33536282)