Calcium Release Channel Deficiency Syndrome
| Disorder | |
|---|---|
| OMIM #: | #604772 (Click to access OMIM database) |
| Disorder: | Calcium Release Channel Deficiency Syndrome |
| Also known as: | Exertion-Related Unexplained Sudden Cardiac Arrest Catecholaminergic polymorphic ventricular tachycardia 1 CPVT1 |
| Clinical | |
| Phenotype: | polymorphic ventricular tachycardia, syncope, cardiac node dysfunction, other cardiac irregularities, sudden cardiac arrest, exercise-associated sudden death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish | |
| Gene: | RYR2 |
| Base Change: | large duplication - 5′UTR/promoter, exons 1-4 |
| Amino Acid Change: | |
| Last updated: | 2022-11-02 |
| References |
|---|
| Tester DJ, Bombei HM, Fitzgerald KK, Giudicessi JR, Pitel BA, Thorland EC, Russell BG, Hamrick SK, Kim CSJ, Haglund-Turnquist CM, Johnsrude CL, Atkins DL, Ochoa Nunez LA, Law I, Temple J, Ackerman MJ. (2020) Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community. JAMA Cardiol Mar 1;5(3):13-18. PubMed ID: 31913406 |
| Tester DJ, Kim CSJ, Hamrick SK, Ye D, et al. (2020) Molecular characterization of the calcium release channel deficiency syndrome. JCI Insight Aug 6;5(15):e135952. PubMed ID: 32663189 |
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