Arrhythmogenic right ventricular dysplasia 11
| Disorder | |
|---|---|
| OMIM #: | #610476 (Click to access OMIM database) |
| Disorder: | Arrhythmogenic right ventricular dysplasia 11 |
| Also known as: | ARVD11 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 11 (ARVC11) |
| Clinical | |
| Phenotype: | early onset biventricular arrhythmogenic cardiomyopathy; congenital aneurysms; ventricular tachycardia; sudden death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Hutterite | |
| Gene: | DSC2 |
| Base Change: | C>T, at nucleotide 1660 |
| Amino Acid Change: | gln 554 --> term |
| Last updated: | 2023-02-01 |
| References |
|---|
| Desai CK, Sheikh M, Klippenstein K, Boyle J, De Berg K, Pham S. (2021) A Case of Peripartum Ventricular Tachycardia due to Arrhythmogenic Right Ventricular Dysplasia. S D Med Jul;74(7):314-317. PubMed ID: 34449993 |
| Gerull B, Kirchner F, Chong JX, Tagoe J, Chandrasekharan K, Strohm O, Waggoner D, Ober C, Duff HJ. (2013) Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. Circ Cardiovasc Genet Aug;6(4):327-36. PubMed ID: 23863954 |
| Wong JA, Duff HJ, Yuen T, Kolman L, Exner DV, Weeks SG, Gerull B. (2014) Phenotypic analysis of arrhythmogenic cardiomyopathy in the Hutterite population: role of electrocardiogram in identifying high-risk desmocollin-2 carriers. J Am Heart Assoc Dec 11;3(6):e001407. PubMed ID: 25497880 |
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