Molecular mechanisms of arrhythmogenic cardiomyopathy

KM Austin, MA Trembley, SF Chandler… - Nature Reviews …, 2019 - nature.com
Arrhythmogenic cardiomyopathy is a genetic disorder characterized by the risk of life-
threatening arrhythmias, myocardial dysfunction and fibrofatty replacement of myocardial …

Systematic review of genotype‐phenotype Correlations in Noncompaction Cardiomyopathy

JI van Waning, J Moesker, D Heijsman… - Journal of the …, 2019 - Am Heart Assoc
Background A genetic cause can be identified in 30% of noncompaction cardiomyopathy
patients (NCCM) with clinical features ranging from asymptomatic cardiomyopathy to heart …

Basic and clinical insights in catecholaminergic (familial) polymorphic ventricular tachycardia

MF Márquez, A Totomoch-Serra, A Rueda… - Revista de …, 2019 - medigraphic.com
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially lethal
disease, whose characteristic ventricular tachycardias are adrenergic-dependent. Although …

Register of adult patients with noncompact left ventricular myocardium: classification of clinical forms and a prospective assessment of progression

EV Pavlenko, OV Blagova… - Russian Journal of …, 2019 - russjcardiol.elpub.ru
Aim. To study clinical forms of noncompact myocardium (NCM) in adults, the features of their
manifestation, course and progression. Material and methods. The study included 116 adult …

Регистр взрослых больных с некомпактным миокардом левого желудочка: классификация клинических форм и проспективная оценка их прогрессирования

ЕВ Павленко, ОВ Благова, НВ Вариончик… - Российский …, 2019 - cyberleninka.ru
Цель. Изучить спектр клинических форм некомпактного миокарда (НКМ) у взрослых,
особенности их проявления, течения и прогрессирования в процессе проспективного …

[图书][B] Gene editing in patient derived stem cells to explore the pathogenicity of the RyR2 variant R4790

M Lettieri - 2019 - search.proquest.com
Introduction: Advances in next generation sequencing technology has created a new clinical
challenge by identifying increasing numbers of variants of unknown significance (VUS). A …