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Browse result for Romano-Ward syndrome
※ introduction Romano¨CWard syndrome is the most common form of congenital Long QT syndrome (LQTS), a genetic heart condition that affects the electrical properties of heart muscle cells. Those affected are at risk of abnormal heart rhythms which can lead to fainting, seizures, or sudden death. Romano¨CWard syndrome can be distinguished clinically from other forms of inherited LQTS as it affects only the electrical properties of the heart, while other forms of LQTS can also affect other parts of the body.
Romano¨CWard syndrome is caused by abnormal variants in the genes responsible for producing certain proteins used to transport charged particles (ion channels) within the heart. These abnormalities interfere with the electrical signals that heart cells use to coordinate contractions, causing the heart to take longer to recharge in between beats. The condition is usually diagnosed using an electrocardiogram, but other tests sometimes used include Holter monitoring, exercise testing, and genetic testing. It may be treated using medications such as beta-blockers, an implantable cardioverter-defibrillator, or surgery to disrupt the sympathetic nervous system. Romano¨CWard syndrome is estimated to affect 1 in every 7,000 people.
Reference
Wiki: Romano-Ward syndrome
Reference
Wiki: Romano-Ward syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD01065 | P0DP23 | 80180 | CALM1 | Calmodulin-1 | Homo sapiens |
| PTMD04006 | P0DP24 | 80180 | CALM2 | Calmodulin-2 | Homo sapiens |
