A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular …
Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an ion
channelopathy usually caused by gain-of-function mutations ryanodine receptor type-2 …
channelopathy usually caused by gain-of-function mutations ryanodine receptor type-2 …
Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction
S Ohno, M Omura, M Kawamura, H Kimura, H Itoh… - Europace, 2014 - academic.oup.com
Aims Ryanodine receptor gene (RYR2) mutations are well known to cause
catecholaminergic polymorphic ventricular tachycardia (CPVT). Recently, RYR2 exon 3 …
catecholaminergic polymorphic ventricular tachycardia (CPVT). Recently, RYR2 exon 3 …
Co-phenotype of left ventricular non-compaction cardiomyopathy and atypical catecholaminergic polymorphic ventricular tachycardia in association with R169Q, a …
Y Nozaki, Y Kato, K Uike, K Yamamura, M Kikuchi… - Circulation …, 2020 - jstage.jst.go.jp
Background: Left ventricular non-compaction (LVNC) is a cardiomyopathy characterized by
prominent trabeculae and intertrabecular recesses. We present the cases of 3 girls with the …
prominent trabeculae and intertrabecular recesses. We present the cases of 3 girls with the …
Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac …
MJ Campbell, RJ Czosek, RB Hinton… - American journal of …, 2015 - Wiley Online Library
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a highly malignant genetic
channelopathy associated with exertional syncope and reproducible polymorphic ventricular …
channelopathy associated with exertional syncope and reproducible polymorphic ventricular …
Increased Ca2+ Transient Underlies RyR2-Related Left Ventricular Noncompaction
Background: A loss-of-function cardiac ryanodine receptor (RyR2) mutation, I4855M+/–, has
recently been linked to a new cardiac disorder termed RyR2 Ca2+ release deficiency …
recently been linked to a new cardiac disorder termed RyR2 Ca2+ release deficiency …
Primary electrical disorder or primary cardiomyopathy? A case with a unique association of noncompaction cardiomyopathy and cathecolaminergic polymorphic …
Z Szentpáli, T Szili-Torok, K Caliskan - Circulation, 2013 - Am Heart Assoc
Discussion In this report we present a unique case with presenting with both classic CPVT
with ryanodine receptor mutation and classic morphological features of NCCM. CPVT is …
with ryanodine receptor mutation and classic morphological features of NCCM. CPVT is …
A large deletion in RYR2 exon 3 is associated with nadolol and flecainide refractory catecholaminergic polymorphic ventricular tachycardia
U Kohli, Z Aziz, AD Beaser… - Pacing and Clinical …, 2019 - Wiley Online Library
We report a 17‐year‐old boy with a large RYR2 exon 3 deletion who has a severe
catecholaminergic polymorphic ventricular tachycardia (CPVT) phenotype characterized by …
catecholaminergic polymorphic ventricular tachycardia (CPVT) phenotype characterized by …
Suppression-of-function mutations in the cardiac ryanodine receptor: emerging evidence for a novel arrhythmia syndrome?
Over the past 4 decades, advancements in our clinical and genetic testing capabilities have
redefined so called idiopathic ventricular fibrillation (VF) as a collection of disorders related …
redefined so called idiopathic ventricular fibrillation (VF) as a collection of disorders related …
Pathogenic mechanism of a catecholaminergic polymorphic ventricular tachycardia causing-mutation in cardiac calcium release channel RyR2
J Xiong, X Liu, Y Gong, P Zhang, S Qiang… - Journal of Molecular and …, 2018 - Elsevier
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition that is
characterized by an abnormal heart rhythm in response to physical or emotional stress. The …
characterized by an abnormal heart rhythm in response to physical or emotional stress. The …
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 …
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