2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of …

E Arbelo, A Protonotarios, JR Gimeno… - European heart …, 2023 - academic.oup.com
• The specific situation of the patient. Unless otherwise provided for by national regulations,
off-label use of medication should be limited to situations where it is in the patient's interest …

Epidemiology of the inherited cardiomyopathies

WJ McKenna, DP Judge - Nature Reviews Cardiology, 2021 - nature.com
In the absence of contemporary, population-based epidemiological studies, estimates of the
incidence and prevalence of the inherited cardiomyopathies have been derived from …

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

AR Harper, A Goel, C Grace, KL Thomson… - Nature …, 2021 - nature.com
Hypertrophic cardiomyopathy (HCM) is a common, serious, genetic heart disorder. Rare
pathogenic variants in sarcomere genes cause HCM, but with unexplained phenotypic …

Hypertrophic cardiomyopathy with left ventricular systolic dysfunction: insights from the SHaRe registry

P Marstrand, L Han, SM Day, I Olivotto, EA Ashley… - Circulation, 2020 - Am Heart Assoc
Background: The term “end stage” has been used to describe hypertrophic cardiomyopathy
(HCM) with left ventricular systolic dysfunction (LVSD), defined as occurring when left …

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 …

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

LR Lopes, S Garcia-Hernández… - European heart …, 2021 - academic.oup.com
Aims The aim of this study was to determine the frequency of heterozygous truncating
ALPK3 variants (ALPK3 tv) in patients with hypertrophic cardiomyopathy (HCM) and confirm …

Apical hypertrophic cardiomyopathy: the variant less known

RK Hughes, KD Knott, J Malcolmson… - Journal of the …, 2020 - Am Heart Assoc
Hypertrophic cardiomyopathy (HCM) is an umbrella term for a heterogeneous heart muscle
disease that was historically (and still is) defined by the detection of left ventricular (LV) …

Circulating biomarkers in hypertrophic cardiomyopathy

EL Matthia, ML Setteducato, M Elzeneini… - Journal of the …, 2022 - Am Heart Assoc
Hypertrophic cardiomyopathy is the most common genetic heart disease. Biomarkers,
molecules measurable in the blood, could inform the clinician by aiding in diagnosis …

Patterns of replacement fibrosis in hypertrophic cardiomyopathy

J Liu, S Zhao, S Yu, G Wu, D Wang, L Liu, J Song… - Radiology, 2022 - pubs.rsna.org
Background Myocardial replacement fibrosis is one of the major histologic features of
hypertrophic cardiomyopathy (HCM), but its characteristics have not been well delineated …

Temporal trend of age at diagnosis in hypertrophic cardiomyopathy: an analysis of the international sarcomeric human cardiomyopathy registry

M Canepa, C Fumagalli, G Tini… - Circulation: Heart …, 2020 - Am Heart Assoc
Background: Over the last 50 years, the epidemiology of hypertrophic cardiomyopathy
(HCM) has changed because of increased awareness and availability of advanced …