An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition
| Title: | An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition |
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| Authors: | Roberts JD; Asaki SY; Mazzanti A; Bos JM; Tuleta I; Muir AR; Crotti L; Krahn AD; Kutyifa V; Shoemaker MB; Johnsrude CL; Aiba T; Marcondes L; Baban A; Udupa S; Dechert B; Fischbach P; Knight LM; Vittinghoff E; Kukavica D; Stallmeyer B; Giudicessi JR; Spazzolini C; Shimamoto K; Tadros R; Cadrin-Tourigny J; Duff HJ; Simpson CS; Roston TM; Wijeyeratne YD; El Hajjaji I; Yousif MD; Gula LJ; Leong-Sit P; Chavali N; Landstrom AP; Marcus GM; Dittmann S; Wilde AAM; Behr ER; Tfelt-Hansen J; Scheinman MM; Perez MV; Kaski JP; Gow RM; Drago F; Aziz PF; Abrams DJ; Gollob MH; Skinner JR; Shimizu W; Kaufman ES; Roden DM; Zareba W; Schwartz PJ; Schulze-Bahr E; Etheridge SP; Priori SG; Ackerman MJ. |
| Contributors: | Roberts, J; Asaki, S; Mazzanti, A; Bos, J; Tuleta, I; Muir, A; Crotti, L; Krahn, A; Kutyifa, V; Shoemaker, M; Johnsrude, C; Aiba, T; Marcondes, L; Baban, A; Udupa, S; Dechert, B; Fischbach, P; Knight, L; Vittinghoff, E; Kukavica, D; Stallmeyer, B; Giudicessi, J; Spazzolini, C; Shimamoto, K; Tadros, R; Cadrin-Tourigny, J; Duff, H; Simpson, C; Roston, T; Wijeyeratne, Y; El Hajjaji, I; Yousif, M; Gula, L; Leong-Sit, P; Chavali, N; Landstrom, A; Marcus, G; Dittmann, S; Wilde, A; Behr, E; Tfelt-Hansen, J; Scheinman, M; Perez, M; Kaski, J; Gow, R; Drago, F; Aziz, P; Abrams, D; Gollob, M; Skinner, J; Shimizu, W; Kaufman, E; Roden, D; Zareba, W; Schwartz, P; Schulze-Bahr, E; Etheridge, S; Priori, S; Ackerman, M |
| Publisher Information: | Lippincott Williams and Wilkins; US |
| Publication Year: | 2020 |
| Collection: | Università degli Studi di Milano-Bicocca: BOA (Bicocca Open Archive) |
| Subject Terms: | arrhythmia; genetic; long QT syndrome; penetrance; sudden cardiac death; Settore BIOS-14/A - Genetica; Settore MEDS-07/B - Malattie dell'apparato cardiovascolare |
| Description: | Background: Insight into type 5 long QT syndrome (LQT5) has been limited to case reports and small family series. Improved understanding of the clinical phenotype and genetic features associated with rare KCNE1 variants implicated in LQT5 was sought through an international multicenter collaboration. Methods: Patients with either presumed autosomal dominant LQT5 (N = 229) or the recessive Type 2 Jervell and Lange-Nielsen syndrome (N = 19) were enrolled from 22 genetic arrhythmia clinics and 4 registries from 9 countries. KCNE1 variants were evaluated for ECG penetrance (defined as QTc >460 ms on presenting ECG) and genotype-phenotype segregation. Multivariable Cox regression was used to compare the associations between clinical and genetic variables with a composite primary outcome of definite arrhythmic events, including appropriate implantable cardioverter-defibrillator shocks, aborted cardiac arrest, and sudden cardiac death. Results: A total of 32 distinct KCNE1 rare variants were identified in 89 probands and 140 genotype positive family members with presumed LQT5 and an additional 19 Type 2 Jervell and Lange-Nielsen syndrome patients. Among presumed LQT5 patients, the mean QTc on presenting ECG was significantly longer in probands (476.9±38.6 ms) compared with genotype positive family members (441.8±30.9 ms, P |
| Document Type: | article in journal/newspaper |
| File Description: | STAMPA |
| Language: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/31941373; info:eu-repo/semantics/altIdentifier/wos/WOS:000529201800007; volume:141; issue:6; firstpage:429; lastpage:439; numberofpages:11; journal:CIRCULATION; https://hdl.handle.net/10281/298112 |
| DOI: | 10.1161/CIRCULATIONAHA.119.043114 |
| Availability: | https://hdl.handle.net/10281/298112; https://doi.org/10.1161/CIRCULATIONAHA.119.043114 |
| Rights: | info:eu-repo/semantics/openAccess |
| Accession Number: | edsbas.3B614330 |
| Database: | BASE |