2023 ESC Guidelines for the management of cardiomyopathies

Protonotarios, Alexandros; Gimeno-Blanes, Juan Ramón; Arbustini, Eloisa; Barriales‐Villa, Roberto; Basso, Cristina; Bezzina, Connie R.; Biagini, Elena; Blom, Nico A.; Boer, Rudolf A. de; Winter, Theresa; Elliott, Perry; Flather, Marcus; García‐Pavía, Pablo; Haugaa, Kristina H.; Ingles, Jodie; Jurcuţ, Ruxandra; Klaassen, Sabine; Limongelli, Giuseppe; Loeys, Bart; Mogensen, Jens; Olivotto, Iacopo; Pantazis, Antonios; Sharma, Sanjay; Tintelen, Peter van; Ware, James S.; Kaski, Juan Pablo; Charron, Philippe; Imazio, Massimo; Abdelhamid, Magdy; Aboyans, Victor; Arad, Michael; Asteggiano, Riccardo; Bilińska, Zofia T.; Bonnet, Damien; Bundgaard, Henning; Cardim, Nuno; Čelutkienė, Jelena; Čikeš, Maja; Ferrari, Gaetano Maria De; Dusi, Veronica; Falk, Volkmar; Fauchier, Laurent; Gandjbakhch, Estelle; Kotecha, Dipak; Landmesser, Ulf; Lazaros, George; Lewis, Basil S.; Linhart, Aleš; Løchen, Maja-Lisa; Meder, Benjamin; Moon, James; Petersen, Steffen E.; Sheppard, Mary N.; Sitges, Marta; Tfelt-Hansen, Jacob; Touyz, Rhian M.; Veltrop, Rogier; Veselka, Josef; Wilde, Arthur A.M.; Kichou, B.; Sisakian, Hamayak; Scherr, Daniel; Gerber, Bernhard; Džubur, Alen; Господинова, Мариана; Planinc, Ivo; Moustra, Hera Heracleous; Zemánek, David; Jensen, Morten Kvistholm; Samir, Ahmad; Palm, Kairit; Heliö, Tiina; Wahbi, Karim; Schulze‐Bahr, Eric; Haralambos, Vlachopoulos; Sepp, Róbert; Aðalsteinsdóttir, Berglind; Ward, Deirdre; Blich, Miry; Sinagra, Gianfranco; Poniku, Afrim; Lunegova, Olga; Rudzītis, Ainārs; Kassab, Roland; Barysienė, Jūratė; Huijnen, Steve; Felice, Tiziana; Vataman, Eleonora; Pavlović, Nikola; Doghmi, Nawal; Asselbergs, Folkert W.; Kostovska, Elizabeta Srbinovska; Almaas, Vibeke Marie; Biernacka, Katarzyna; Brito, Dulce; Roşca, Monica; Zavatta, Marco; Ristić, Arsen D.; Gonçalvesová, Eva; Šinkovec, Matjaž; Cañadas-Godoy, Victoria; Platonov, Pyotr G.; Saguner, Ardan M.; Saadi, Ahmad Rasheed Al; Kammoun, Ikram; Çelik, Ahmet; Nesukay, E. G.; Абдуллаев, Т. А.; Prescott, Eva; James, Stefan; Arbelo, Elena; Baigent, Colin; Borger, Michael A.; Buccheri, Sergio; Ibáñez, Borja; Køber, Lars; Koskinas, Konstantinos C.; McEvoy, John W.; Mihaylova, Borislava; Mindham, Richard; Neubeck, Lis; Nielsen, Jens Cosedis; Pasquet, Agnès; Rakisheva, Amina; Rocca, Bianca; Rosselló, Xavier; Vaartjes, Ilonca; Vrints, Christiaan J.; Witkowski, Adam; Zeppenfeld, Katja

doi:10.1093/eurheartj/ehad194

Cited by 308 publications

(289 citation statements)

References 1,169 publications

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“…1 When present in isolation, intermediate phenotypes may exist, namely isolated LV dilatation or non-dilated LV cardiomyopathy. 2 Rare variants in DCM genes are similarly prevalent amongst patients with non-dilated LV cardiomyopathy and DCM, supporting the notion that these phenotypes reflect a spectrum of the same disease. 3 Observational studies of patients with early-NICM are lacking.…”

Section: Introductionmentioning

confidence: 74%

“…There are limited data characterizing phenotype, disease progression and stratifying risk. 2 Accordingly, there remains uncertainty regarding optimal management and limited consensus in guidelines. 4,5 Many patients with new-onset symptomatic DCM respond well to contemporary heart failure (HF) therapies, resulting in high rates of LV reverse remodelling.…”

Section: Introductionmentioning

confidence: 99%

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Phenotype, outcomes and natural history of early‐stage non‐ischaemic cardiomyopathy

Hammersley,

Jones,

Owen

et al. 2023

European J of Heart Fail

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AimsTo characterise the phenotype, clinical outcomes and rate of disease progression in patients with early‐stage non‐ischaemic cardiomyopathy (early‐NICM).Methods and resultsWe conducted a prospective observational cohort study of patients with early‐NICM assessed by late‐gadolinium‐enhancement cardiovascular magnetic resonance. Cases were classified into the following subgroups: isolated left ventricular dilation (early‐NICM H‐/D+), non‐dilated left ventricular cardiomyopathy (early‐NICM H+/D‐) or early dilated cardiomyopathy (early‐NICM H+/D+). Clinical follow‐up for major adverse cardiovascular events (MACE) included non‐fatal life‐threatening arrhythmia, unplanned cardiovascular hospitalisation or cardiovascular death. A subset of patients (n=119) underwent a second CMR to assess changes in cardiac structure and function.Of 254 patients with early‐NICM (median age 46 years [interquartile range 36‐58], 94 [37%] women, median LVEF 55% [52‐59]), myocardial fibrosis was present in 65 (26%). There was no difference in the prevalence of fibrosis between subgroups (p=0.90), however fibrosis mass was lowest in early‐NICM H‐/D+, higher in early‐NICM H+/D‐ and highest in early‐NICM H+/D+ (p=0.03). Over a median follow‐up of 7.9 (5.5‐10.0) years, 28 patients (11%) experienced MACE. Non‐sustained ventricular tachycardia (hazard ratio [HR] 5.1, 95% confidence interval [CI] 2.36‐11.00, p<0.001), myocardial fibrosis (HR 3.77, 95% CI 1.73‐8.20, p<0.001) and diabetes mellitus (HR 5.12, 95% CI 1.73‐15.18, p=0.003) were associated with MACE in a multivariable model. Only 8% of patients progressed from early‐NICM to DCM with LVEF <50% over a median of 16 (11‐34) months.ConclusionEarly‐NICM is not benign. Fibrosis develops early in the phenotypic course. In‐depth characterisation enhances risk stratification and might aid clinical management.This article is protected by copyright. All rights reserved.

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Section: Introductionmentioning

confidence: 74%

Section: Introductionmentioning

confidence: 99%

Phenotype, outcomes and natural history of early‐stage non‐ischaemic cardiomyopathy

Hammersley,

Jones,

Owen

et al. 2023

European J of Heart Fail

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“…Genetic testing and counselling should be offered to all patients with DCM (and other cardiomyopathies) as it can aid in diagnosis, risk assessment, prognostication and reproductive decisions, and serve to initiate cascade genetic screening of the relatives. 27 Currently there is a paucity of validated risk stratification schemes for SCD which include the knowledge of a pathogenic gene variant. A notable exception is a SCD risk prediction score for the highly penetrant LMNA gene mutations associated with premature conduction abnormalities, a high risk of SCD and progression to advanced HF (https://lmna-riskvta.fr/).…”

Section: Genetic Backgroundmentioning

confidence: 99%

“…78 Current European Society of Cardiology (ESC) guidelines recommend primary ICD implantation in patients with DCM according to the indications outlined in Table 3. 4,27,79 The recent 2023 Guidelines for the management of cardiomyopathies stress the importance of SCD risk assessment beyond LVEF by suggesting that patients with high-risk genetic background (e.g. LMNA, TMEM43, DSP, RBM20, PLN, FLNC-truncating variants) should be considered for primary prevention ICD implantation with LVEF thresholds >35%, particularly in the presence of additional risk factors (e.g.…”

Section: Role Of Implantable Cardioverter-defibrillatorsmentioning

confidence: 99%

“…significant LGE on CMR, unexplained syncope, NSVT, frequent ventricular premature complexes, positive PES) (Table 3). 27 A shared decision-making is advised considering patients' preferences, beliefs and values, with a thorough discussion of gaps in evidence, competing risks and device-related complications. 27 Furthermore, intense exercise should be avoided in individuals with DCM and a history of cardiac arrest/unexplained syncope, LVEF <45%, frequent ventricular arrhythmias on ambulatory electrocardiogram, extensive LGE on CMR and high-risk genotype.…”

Section: Role Of Implantable Cardioverter-defibrillatorsmentioning

confidence: 99%

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Incidence, risk assessment and prevention of sudden cardiac death in cardiomyopathies

Polovina,

Tschöpe,

Rosano

et al. 2023

European J of Heart Fail

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Cardiomyopathies are a significant contributor to cardiovascular morbidity and mortality, mainly due to the development of heart failure and increased risk of sudden cardiac death (SCD). Despite improvement in survival with contemporary treatment, SCD remains an important cause of mortality in cardiomyopathies. It occurs at a rate ranging between 0.15% and 0.7% per year (depending on the cardiomyopathy), which significantly surpasses SCD incidence in the age‐ and sex‐matched general population. The risk of SCD is affected by multiple factors including the aetiology, genetic basis, age, sex, physical exertion, the extent of myocardial disease severity, conduction system abnormalities, and electrical instability, as measured by various metrics. Over the past decades, the knowledge on the mechanisms and risk factors for SCD has substantially improved, allowing for a better‐informed risk stratification. However, unresolved issues still challenge the guidance of SCD prevention in patients with cardiomyopathies. In this review, we aim to provide an in‐depth discussion of the contemporary concepts pertinent to understanding the burden, risk assessment and prevention of SCD in cardiomyopathies (dilated, non‐dilated left ventricular, hypertrophic, arrhythmogenic right ventricular, and restrictive). The review first focuses on SCD incidence in cardiomyopathies and then summarizes established and emerging risk factors for life‐threatening arrhythmias/SCD. Finally, it discusses validated approaches to the risk assessment and evidence‐based measures for SCD prevention in cardiomyopathies, pointing to the gaps in evidence and areas of uncertainties that merit future clarification.

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Natural history and outcomes in paediatric RASopathy‐associated hypertrophic cardiomyopathy

Boleti,

Norrish,

Field

et al. 2024

ESC Heart Failure

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AimsThis study aimed to describe the natural history and predictors of all‐cause mortality and sudden cardiac death (SCD)/equivalent events in children with a RASopathy syndrome and hypertrophic cardiomyopathy (HCM).Methods and resultsThis is a retrospective cohort study from 14 paediatric cardiology centres in the United Kingdom and Ireland. We included children <18 years with HCM and a clinical and/or genetic diagnosis of a RASopathy syndrome [Noonan syndrome (NS), NS with multiple lentigines (NSML), Costello syndrome (CS), cardiofaciocutaneous syndrome (CFCS), and NS with loose anagen hair (NS‐LAH)]. One hundred forty‐nine patients were recruited [111 (74.5%) NS, 12 (8.05%) NSML, 6 (4.03%) CS, 6 (4.03%) CFCS, 11 (7.4%) Noonan‐like syndrome, and 3 (2%) NS‐LAH]. NSML patients had higher left ventricular outflow tract (LVOT) gradient values [60 (36–80) mmHg, P = 0.004]. Over a median follow‐up of 197.5 [inter‐quartile range (IQR) 93.58–370] months, 23 patients (15.43%) died at a median age of 24.1 (IQR 5.6–175.9) months. Survival was 96.45% [95% confidence interval (CI) 91.69–98.51], 90.42% (95% CI 84.04–94.33), and 84.12% (95% CI 75.42–89.94) at 1, 5, and 10 years, respectively, but this varied by RASopathy syndrome. RASopathy syndrome, symptoms at baseline, congestive cardiac failure (CCF), non‐sustained ventricular tachycardia (NSVT), and maximal left ventricular wall thickness were identified as predictors of all‐cause mortality on univariate analysis, and CCF, NSVT, and LVOT gradient were predictors for SCD or equivalent event.ConclusionsThese findings highlight a distinct category of patients with Noonan‐like syndrome with a milder HCM phenotype but significantly worse survival and identify potential predictors of adverse outcome in patients with RASopathy‐related HCM.

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2023 ESC Guidelines for the management of cardiomyopathies

Cited by 308 publications

References 1,169 publications

Phenotype, outcomes and natural history of early‐stage non‐ischaemic cardiomyopathy

Phenotype, outcomes and natural history of early‐stage non‐ischaemic cardiomyopathy

Incidence, risk assessment and prevention of sudden cardiac death in cardiomyopathies

Natural history and outcomes in paediatric RASopathy‐associated hypertrophic cardiomyopathy

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