Clinical Diagnosis, Imaging, and Genetics of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: JACC State-of-the-Art Review

E Gandjbakhch, A Redheuil, F Pousset… - Journal of the American …, 2018 - jacc.org
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited
cardiomyopathy that can lead to sudden cardiac death and heart failure. Our understanding …

Genetics of dilated cardiomyopathy: practical implications for heart failure management

AN Rosenbaum, KE Agre, NL Pereira - Nature Reviews Cardiology, 2020 - nature.com
Given the global burden of heart failure, strategies to understand the underlying cause or to
provide prognostic information are critical to reducing the morbidity and mortality associated …

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 …

Genetic and phenotypic landscape of peripartum cardiomyopathy

R Goli, J Li, J Brandimarto, LD Levine, V Riis… - Circulation, 2021 - Am Heart Assoc
Background: Peripartum cardiomyopathy (PPCM) occurs in≈ 1: 2000 deliveries in the
United States and worldwide. The genetic underpinnings of PPCM remain poorly defined …

Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies

R Walsh, JA Offerhaus, R Tadros… - Nature Reviews …, 2022 - nature.com
Hypertrophic cardiomyopathy (HCM) was traditionally described as an autosomal dominant
Mendelian disease but is now increasingly recognized as having a complex genetic …

Dilated cardiomyopathy: from epidemiologic to genetic phenotypes: a translational review of current literature

D Reichart, C Magnussen, T Zeller… - Journal of internal …, 2019 - Wiley Online Library
Dilated cardiomyopathy (DCM) is characterized by left ventricular dilatation and,
consecutively, contractile dysfunction. The causes of DCM are heterogeneous. DCM often …

Dilated cardiomyopathy: causes, mechanisms, and current and future treatment approaches

S Heymans, NK Lakdawala, C Tschöpe, K Klingel - The Lancet, 2023 - thelancet.com
Dilated cardiomyopathy is conventionally defined as the presence of left ventricular or
biventricular dilatation or systolic dysfunction in the absence of abnormal loading conditions …

Phenotypic expression, natural history, and risk stratification of cardiomyopathy caused by filamin C truncating variants

M Gigli, D Stolfo, SL Graw, M Merlo, C Gregorio… - Circulation, 2021 - Am Heart Assoc
Background: Filamin C truncating variants (FLNCtv) cause a form of arrhythmogenic
cardiomyopathy: the mode of presentation, natural history, and risk stratification of FLNCtv …

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 …

Arrhythmias as presentation of genetic cardiomyopathy

J Lukas Laws, MC Lancaster… - Circulation …, 2022 - Am Heart Assoc
There is increasing evidence regarding the prevalence of genetic cardiomyopathies, for
which arrhythmias may be the first presentation. Ventricular and atrial arrhythmias …