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 …

A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular …

TM Roston, W Guo, AD Krahn, R Wang… - Journal of …, 2017 - Elsevier
Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an ion
channelopathy usually caused by gain-of-function mutations ryanodine receptor type-2 …

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 …

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 …

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 …

[PDF][PDF] Non-compaction cardiomyopathy presented with atrial fibrillation: a case report and literature review

T Li, L Mendoza, W Chan, IM McFarlane - Am J Med Case Rep, 2020 - researchgate.net
Background: Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital
cardiomyopathy characterized by increased trabeculation in one or more segments of the …

Catheter ablation of ventricular arrhythmias in left ventricular noncompaction cardiomyopathy

JJS Muñoz, C Muñoz-Esparza, PP Verdú, JM Sánchez… - Heart Rhythm, 2021 - Elsevier
Background There are limited data on ventricular arrhythmias (VAs) associated with left
ventricular noncompaction (LVNC) cardiomyopathy. Objectives This study aims to analyze …

Targeted panel sequencing in adult patients with left ventricular non‐compaction reveals a large genetic heterogeneity

P Richard, F Ader, M Roux, E Donal, JC Eicher… - Clinical …, 2019 - Wiley Online Library
Left ventricular non‐compaction (LVNC) is a cardiomyopathy that may be of genetic origin;
however, few data are available about the yield of mutation, the spectrum of genes and …

[HTML][HTML] Genetic profile of left ventricular noncompaction cardiomyopathy in children—a single reference center experience

D Piekutowska-Abramczuk, A Paszkowska, E Ciara… - Genes, 2022 - mdpi.com
Background: Left ventricular noncompaction cardiomyopathy (LVNC) is a rare cardiac
disorder characterised by the presence of a two-layer myocardium with prominent …

RBM20 mutations in left ventricular non-compaction cardiomyopathy

A Gaertner, B Klauke, A Brodehl, H Milting - Pediatric Investigation, 2020 - mednexus.org
Development. subtypes including benign LVNC with preserved systolic and diastolic
function, dilated, hypertrophic, restrictive, and arrhythmogenic LVNC. 16 The reasons for the …