Guidelines for genetic testing of inherited cardiac disorders
J Ingles, PR Zodgekar, L Yeates, I Macciocca… - Heart, Lung and …, 2011 - Elsevier
Inherited gene variants have been implicated increasingly in cardiac disorders but the
clinical impact of these discoveries has been variable. For some disorders, such as familial …
clinical impact of these discoveries has been variable. For some disorders, such as familial …
Atrial fibrillation in patients with inherited cardiomyopathies
C Yeung, A Enriquez, L Suarez-Fuster… - Ep …, 2019 - academic.oup.com
Atrial fibrillation (AF) often complicates the course of inherited cardiomyopathies and, in
some cases, may be the presenting feature. Each inherited cardiomyopathy has its own …
some cases, may be the presenting feature. Each inherited cardiomyopathy has its own …
Effects of mechanical stress and carvedilol in lamin A/C–deficient dilated cardiomyopathy
S Chandar, LS Yeo, C Leimena, JC Tan… - Circulation …, 2010 - Am Heart Assoc
Rationale: Mutations in the LMNA gene, which encodes the nuclear lamina proteins lamin A
and lamin C, are the most common cause of familial dilated cardiomyopathy (DCM) …
and lamin C, are the most common cause of familial dilated cardiomyopathy (DCM) …
Genetics and disease of ventricular muscle
D Fatkin, CE Seidman… - Cold Spring …, 2014 - perspectivesinmedicine.cshlp.org
Cardiomyopathies are a heterogeneous group of heart muscle diseases associated with
heart failure, arrhythmias, and death. Genetic variation has a critical role in the pathogenesis …
heart failure, arrhythmias, and death. Genetic variation has a critical role in the pathogenesis …
EH-myomesin splice isoform is a novel marker for dilated cardiomyopathy
R Schoenauer, MY Emmert, A Felley, E Ehler… - Basic research in …, 2011 - Springer
The M-band is the prominent cytoskeletal structure that cross-links the myosin and titin
filaments in the middle of the sarcomere. To investigate M-band alterations in heart disease …
filaments in the middle of the sarcomere. To investigate M-band alterations in heart disease …
Rbm20-deficient cardiogenesis reveals early disruption of RNA processing and sarcomere remodeling establishing a developmental etiology for dilated …
R Beraldi, X Li, A Martinez Fernandez… - Human molecular …, 2014 - academic.oup.com
Dilated cardiomyopathy (DCM) due to mutations in RBM20, a gene encoding an RNA-
binding protein, is associated with high familial penetrance, risk of progressive heart failure …
binding protein, is associated with high familial penetrance, risk of progressive heart failure …
Pharmacological Modulation of Calcium Homeostasis in Familial Dilated Cardiomyopathy: An In Vitro Analysis From an RBM20 Patient‐Derived iPSC Model
SP Wyles, SC Hrstka, S Reyes, A Terzic… - Clinical and …, 2016 - Wiley Online Library
For inherited cardiomyopathies, abnormal sensitivity to intracellular calcium (Ca2+), incurred
from genetic mutations, initiates subsequent molecular events leading to pathological …
from genetic mutations, initiates subsequent molecular events leading to pathological …
Evaluation of left ventricular enlargement as a marker of early disease in familial dilated cardiomyopathy
D Fatkin, T Yeoh, CS Hayward, V Benson… - Circulation …, 2011 - Am Heart Assoc
Background—Echocardiographic screening of families with dilated cardiomyopathy has
identified a subgroup of asymptomatic relatives with left ventricular enlargement (LVE). The …
identified a subgroup of asymptomatic relatives with left ventricular enlargement (LVE). The …
The cardiorenal syndrome in heart failure: cardiac? renal? syndrome?
F Triposkiadis, RC Starling, H Boudoulas… - Heart Failure …, 2012 - Springer
There has been increasing interest on the so-called cardiorenal syndrome (CRS), defined
as a complex pathophysiological disorder of the heart and kidneys whereby acute or chronic …
as a complex pathophysiological disorder of the heart and kidneys whereby acute or chronic …
[PDF][PDF] The cytoskeleton of the cardiac muscle cell
I Sarantitis, P Papanastasopoulos, M Manousi… - Hellenic J …, 2012 - hellenicjcardiol.org
The cytoskeleton of the cardiomyo-cyte has a special place among the subcellular biological
structures, due to its complexity, its exceptional organisation, and to the multiple roles it …
structures, due to its complexity, its exceptional organisation, and to the multiple roles it …