SCN5A overlap syndromes: An open-minded approach

被引：5

作者：

Porretta, Alessandra P. ^{[1
,2
]}

Probst, Vincent ^{[3
]}

Bhuiyan, Zahurul A. ^{[4
]}

Davoine, Emeline ^{[4
]}

Deliniere, Antoine ^{[5
]}

Pascale, Patrizio ^{[1
]}

Schlaepfer, Juerg ^{[1
]}

Superti-Furga, Andrea ^{[4
,6
]}

Pruvot, Etienne ^{[1
]}

机构：

[1] CHU Vaudois, Serv Cardiol, Lausanne, Switzerland

[2] Univ Pavia, Dept Clin Surg Diagnost & Pediat Sci, Pavia, Italy

[3] CHU Nantes, Hop Nord, Serv Cardiol, Inst Thorax, Nantes, France

[4] Lausanne Univ Hosp, Div Genet Med, Lausanne, Switzerland

[5] Hosp Civils Lyon, Hop Cardiol Louis Pradel, Serv Rhythmol, Lyon, France

[6] Univ Lausanne, Lausanne, Switzerland

来源：

HEART RHYTHM | 2022年 / 19卷 / 08期

关键词：

Cardiogenetics; Channelopathies; Polygenic inheritance; SCN5A gene; SCN5A overlap syndrome; SICK SINUS SYNDROME; BRUGADA-SYNDROME; CONDUCTION DISEASE; HIGH-RISK; LONG-QT; MUTATION; MANIFESTATIONS; PREDOMINANCE; TESTOSTERONE; TRAFFICKING;

D O I：

10.1016/j.hrthm.2022.03.1223

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

SCN5A overlap syndromes are clinical entities that express a phenotype combining aspects of different canonical SCN5A-related arrhythmia syndromes or a variable arrhythmic phenotype among individuals carrying the same SCN5A mutation. Here we review the literature addressing SCN5A overlap syndromes as well as the principal mechanisms currently proposed. Among others, a multifactorial determination encompassing an interaction between SCN5A variant(s), other genetic polymorphisms, and possibly environmental factors seems the most plausible hypothesis.

引用

页码：1363 / 1368

页数：6

共 50 条

[41] Sex-Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome
Aizawa, Yoshiyasu
Fujisawa, Taishi
Katsumata, Yoshinori
Kohsaka, Shun
Kunitomi, Akira
Ohno, Seiko
Sonoda, Keiko
Hayashi, Hidemori
Hojo, Rintaro
Fukamizu, Seiji
Nagase, Satoshi
Ito, Shogo
Nakajima, Kazuaki
Nishiyama, Takahiko
Kimura, Takehiro
Kurita, Yasuo
Furukawa, Yoshiko
Takatsuki, Seiji
Ogawa, Satoshi
Nakazato, Yuji
Sumiyoshi, Masataka
Kosaki, Kenjiro
Horie, Minoru
Fukuda, Keiichi
JOURNAL OF THE AMERICAN HEART ASSOCIATION, 2018, 7 (18):
[42] Novel SCN5A variants identified in a group of Iranian Brugada syndrome patients
Ghaffari, Taraneh
Motlagh, Naser Mirhosseini
Daraei, Abdolreza
Tafrihi, Majid
Saravi, Mehrdad
Sabour, Davood
FUNCTIONAL & INTEGRATIVE GENOMICS, 2021, 21 (3-4) : 331 - 340
[43] Novel SCN5A variants identified in a group of Iranian Brugada syndrome patients
Taraneh Ghaffari
Naser Mirhosseini Motlagh
Abdolreza Daraei
Majid Tafrihi
Mehrdad Saravi
Davood Sabour
Functional & Integrative Genomics, 2021, 21 : 331 - 340
[44] Founder mutations in the Netherlands SCN5a 1795insD, the first described arrhythmia overlap syndrome and one of the largest and best characterised families worldwide
Postema, P. G.
Van den Berg, M. P.
Van Tintelen, J. P.
Van den Heuvel, F.
Grundeken, M.
Hofman, N.
Van der Roest, W. P.
Nannenberg, E. A.
Krapels, I. P. C.
Bezzina, C. R.
Wilde, A. A. M.
NETHERLANDS HEART JOURNAL, 2009, 17 (11) : 422 - 428
[45] Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1
Wahbi, Karim
Algalarrondo, Vincent
Becane, Henri Marc
Fressart, Veronique
Beldjord, Cherif
Azibi, Kamel
Lazarus, Arnaud
Berber, Nawal
Radvanyi-Hoffman, Helene
Stojkovic, Tanya
Behin, Anthony
Laforet, Pascal
Eymard, Bruno
Hatem, Stephane
Duboc, Denis
ARCHIVES OF CARDIOVASCULAR DISEASES, 2013, 106 (12) : 635 - 643
[46] Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A
Tfelt-Hansen, Jacob
Jespersen, Thomas
Hofman-Bang, Jacob
Rasmussen, Hanne Borger
Cedergreen, Pernille
Skovby, Flemming
Abriel, Hugues
Svendsen, Jesper Hastrup
Olesen, Soren-Peter
Christiansen, Michael
Haunso, Stig
CANADIAN JOURNAL OF CARDIOLOGY, 2009, 25 (03) : 156 - 160
[47] SCN5A variant type-dependent risk prediction in Brugada syndrome
Aizawa, Takanori
Makiyama, Takeru
Huang, Hai
Imamura, Tomohiko
Fukuyama, Megumi
Sonoda, Keiko
Kato, Koichi
Hisamatsu, Takashi
Nakamura, Yuko
Hoshino, Kenji
Ozawa, Junichi
Suzuki, Hiroshi
Yasuda, Kazushi
Aoki, Hisaaki
Kurita, Takashi
Yoshida, Yoko
Suzuki, Tsugutoshi
Nakamura, Yoshihide
Ogawa, Yoshiharu
Yamagami, Shintaro
Morita, Hiroshi
Yuasa, Shinsuke
Fukuda, Masakazu
Ono, Makoto
Kondo, Hidekazu
Takahashi, Naohiko
Ohno, Seiko
Nakagawa, Yoshihisa
Ono, Koh
Horie, Minoru
EUROPACE, 2025, 27 (02):
[48] A novel familial SCN5A exon 20 deletion is associated with a heterogeneous phenotype
Kohli, Utkarsh
Sriram, Chenni S.
Nayak, Hemal M.
JOURNAL OF ELECTROCARDIOLOGY, 2021, 66 : 131 - 135
[49] H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters
Hiroya Matsumura
Yukiko Nakano
Hidenori Ochi
Yuko Onohara
Akinori Sairaku
Takehito Tokuyama
Shunsuke Tomomori
Chikaaki Motoda
Michitaka Amioka
Naoya Hironobe
Masaaki Toshishige
Shinya Takahashi
Katsuhiko Imai
Taijiro Sueda
Kazuaki Chayama
Yasuki Kihara
Journal of Biomedical Science, 24
[50] Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A
Medeiros-Domingo, Argelia
Tan, Bi-Hua
Iturralde-Torres, Pedro
Tester, David J.
Tusie-Luna, Teresa
Makielski, Jonathan C.
Ackerman, Michael J.
HEART RHYTHM, 2009, 6 (08) : 1170 - 1175

← 1 2 3 4 5 →