Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing
DJ Tester, P Arya, M Will, CM Haglund, AL Farley… - Heart Rhythm, 2006 - Elsevier
BACKGROUND: Mutations in the RyR2-encoded cardiac ryanodine receptor/calcium
release channel and in CASQ2-encoded calsequestrin cause catecholaminergic …
release channel and in CASQ2-encoded calsequestrin cause catecholaminergic …
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: Disease penetrance and expression in cardiac ryanodine receptor mutation–carrying …
C van der Werf, I Nederend, N Hofman… - Circulation …, 2012 - Am Heart Assoc
Background—Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited
arrhythmia syndrome associated with mutations in the cardiac ryanodine receptor gene …
arrhythmia syndrome associated with mutations in the cardiac ryanodine receptor gene …
Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan
M Kawamura, S Ohno, N Naiki, I Nagaoka… - Circulation …, 2013 - jstage.jst.go.jp
Background: The genetic background of catecholaminergic polymorphic ventricular
tachycardia (CPVT) has been extensively investigated for the last decade in Western …
tachycardia (CPVT) has been extensively investigated for the last decade in Western …
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients
AV Postma, I Denjoy, J Kamblock, M Alders… - Journal of medical …, 2005 - jmg.bmj.com
Background: The aim of the study was to assess underlying genetic cause (s), clinical
features, and response to therapy in catecholaminergic polymorphic ventricular tachycardia …
features, and response to therapy in catecholaminergic polymorphic ventricular tachycardia …
[HTML][HTML] Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry
Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is often a life-
threatening arrhythmia disorder with variable penetrance and expressivity. Little is known …
threatening arrhythmia disorder with variable penetrance and expressivity. Little is known …
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia
Background—Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal,
rare hereditary disease with an estimated prevalence of 1: 10 000. The genetic variants that …
rare hereditary disease with an estimated prevalence of 1: 10 000. The genetic variants that …
Interpreting incidentally identified variants in genes associated with catecholaminergic polymorphic ventricular tachycardia in a large cohort of clinical whole-exome …
AP Landstrom, AL Dailey-Schwartz… - Circulation …, 2017 - Am Heart Assoc
Background—The rapid expansion of genetic testing has led to increased utilization of
clinical whole-exome sequencing (WES). Clinicians and genetic researchers are being …
clinical whole-exome sequencing (WES). Clinicians and genetic researchers are being …
The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry
TM Roston, Z Yuchi, PJ Kannankeril, J Hathaway… - Ep …, 2018 - academic.oup.com
Aims Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an ion
channelopathy characterized by ventricular arrhythmia during exertion or stress. Mutations …
channelopathy characterized by ventricular arrhythmia during exertion or stress. Mutations …
High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade …
KH Haugaa, IS Leren, KE Berge, J Bathen… - Europace, 2010 - academic.oup.com
Aim Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited cardiac
disease predisposing to life-threatening arrhythmias. We aimed to determine the prevalence …
disease predisposing to life-threatening arrhythmias. We aimed to determine the prevalence …
[HTML][HTML] Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia
A Marjamaa, P Laitinen-Forsblom, AM Lahtinen… - BMC medical …, 2009 - Springer
Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe
inherited cardiac disorder caused by mutations predominantly in the ryanodine receptor …
inherited cardiac disorder caused by mutations predominantly in the ryanodine receptor …
相关搜索
- phenotypic mimicry genotypic heterogeneity
- phenotypic mimicry ventricular tachycardia
- ventricular tachycardia genotypic heterogeneity
- ventricular tachycardia genetic background
- ventricular tachycardia ryr2 mutations
- ventricular tachycardia disease penetrance
- ventricular tachycardia high prevalence
- ventricular tachycardia familial evaluation
- ventricular tachycardia large cohort
- ventricular tachycardia genetic variants
- ventricular tachycardia receptor mutation
- ventricular tachycardia family members