Article
The Yield of Genetic Testing and Putative Genetic Factors of Disease Heterogeneity in Long QT Syndrome Patients.
International journal of molecular sciences - 7 Nov 2024
Bukaeva Anna, Ershova Alexandra, Kharlap Maria, Kiseleva Anna, Kutsenko Vladimir, Sotnikova Evgeniia, Divashuk Mikhail, Pokrovskaya Maria, Garbuzova Elizaveta, Blokhina Anastasia, Kopylova Oksana, Zotova Evgenia, Petukhova Anna, Zharikova Anastasia, Ramensky Vasily, Zaicenoka Marija, Vyatkin Yuri, Meshkov Alexey, Drapkina Oxana
Abstract excerpt
Genetic overdiagnosis of long QT syndrome (LQTS) becomes a critical concern due to the high clinical significance of DNA diagnosis. Current guidelines for LQTS genetic testing recommend a limited scope and strict referral based on the Schwartz score. Nevertheless, LQTS may be underdiagnosed in patients with borderline phenotypes. We aimed to evaluate the total yield of rare variants in cardiac genes in LQTS...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.