Cardiomyopathy in children: classification and diagnosis: a scientific statement from the American Heart Association

SE Lipshultz, YM Law, A Asante-Korang, ED Austin… - Circulation, 2019 - ahajournals.org
In this scientific statement from the American Heart Association, experts in the field of
cardiomyopathy (heart muscle disease) in children address 2 issues: the most current …

The chaperone-assisted selective autophagy complex dynamics and dysfunctions

B Tedesco, L Vendredy, V Timmerman, A Poletti - Autophagy, 2023 - Taylor & Francis
Each protein must be synthesized with the correct amino acid sequence, folded into its
native structure, and transported to a relevant subcellular location and protein complex. If …

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy

JA Towbin, WJ McKenna, DJ Abrams, MJ Ackerman… - Heart rhythm, 2019 - Elsevier
Arrhythmogenic cardiomyopathy (ACM) is an arrhythmogenic disorder of the myocardium
not secondary to ischemic, hypertensive, or valvular heart disease. ACM incorporates a …

Genetics, clinical features, and long-term outcome of noncompaction cardiomyopathy

JI van Waning, K Caliskan, YM Hoedemaekers… - Journal of the American …, 2018 - jacc.org
Background: The clinical outcomes of noncompaction cardiomyopathy (NCCM) range from
asymptomatic to heart failure, arrhythmias, and sudden cardiac death. Genetics play an …

A mutation update for the FLNC gene in myopathies and cardiomyopathies

JAJ Verdonschot, EK Vanhoutte, GRF Claes… - Human …, 2020 - Wiley Online Library
Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally,
FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high …

Genetic and functional insights into the fractal structure of the heart

HV Meyer, TJW Dawes, M Serrani, W Bai, P Tokarczuk… - Nature, 2020 - nature.com
The inner surfaces of the human heart are covered by a complex network of muscular
strands that is thought to be a remnant of embryonic development,. The function of these …

Molecular insights into cardiomyopathies associated with desmin (DES) mutations

A Brodehl, A Gaertner-Rommel, H Milting - Biophysical reviews, 2018 - Springer
Increasing usage of next-generation sequencing techniques pushed during the last decade
cardiogenetic diagnostics leading to the identification of a huge number of genetic variants …

Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies

AG Jolfayi, E Kohansal, S Ghasemi, N Naderi… - Scientific Reports, 2024 - nature.com
The giant protein titin (TTN) is a sarcomeric protein that forms the myofibrillar backbone for
the components of the contractile machinery which plays a crucial role in muscle disorders …

Clinical risk prediction in patients with left ventricular myocardial noncompaction

G Casas, J Limeres, G Oristrell… - Journal of the American …, 2021 - jacc.org
Background Left ventricular noncompaction (LVNC) is a heterogeneous entity with uncertain
prognosis. Objectives This study sought to develop and validate a prediction model of major …

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies

F Mazzarotto, MH Hawley, M Beltrami, L Beekman… - Genetics in …, 2021 - nature.com
Purpose To characterize the genetic architecture of left ventricular noncompaction (LVNC)
and investigate the extent to which it may represent a distinct pathology or a secondary …