Dilated cardiomyopathy: causes, family screening, recovery

• This page covers how dilated cardiomyopathy is defined, its genetic and acquired causes, the work-up, genetic testing and family screening, sudden death prevention and what LVEF recovery means.^[1][2]

• Heart failure drugs and devices are covered in Heart failure with reduced ejection fraction and ICD and CRT indications in heart failure; the ICD trials are in ICD primary prevention: the trial evidence.

• Myocarditis is covered in Myocarditis: presentation, biopsy criteria, management and amyloid in Cardiac amyloidosis: AL vs ATTR, imaging, tafamidis.

Definitions: DCM, NDLVC and familial disease

ESC 2023 defines dilated cardiomyopathy by LV dilatation and systolic dysfunction unexplained solely by abnormal loading conditions or CAD.^[1] LV dilatation means end-diastolic dimensions or volumes >2 z-scores above population means corrected for body size, sex and/or age.^[1]

• For adults by echo, that is an LV end-diastolic diameter >58 mm in males and >52 in females, and an LVEDV index of ≥75 mL/m² in males and ≥62 mL/m² in females.^[1]

Global LV systolic dysfunction is defined as LVEF <50%.^[1]

• ESC 2023 defines the non-dilated LV cardiomyopathy (NDLVC) phenotype by non-ischaemic LV scarring or fatty replacement without LV dilatation, with or without global or regional wall motion abnormalities, or by isolated global LV hypokinesia without scarring on LGE, unexplained solely by abnormal loading conditions (hypertension, valve disease) or CAD.^[1]
• The ESC 2022 ventricular arrhythmia rows use the term hypokinetic non-dilated cardiomyopathy (HNDCM), a category it says was proposed because the phenotype of genetic causes can change over time and may not meet standard criteria when disease first manifests.^[3]

In relatives

• Testing in relatives often shows mild, non-diagnostic changes that overlap with normal variation or mimic changes seen in other more common diseases such as hypertension and obesity (ESC 2023).^[1]
• In this context, the presence of isolated LV dilatation with preserved systolic function or in the presence of a familial causative variant is sufficient for a diagnosis of DCM in a relative.^[1]

Additional ECG or imaging abnormalities in a family with DCM are suggestive and warrant close follow-up.^[1]

• Without conclusive genetic information, ESC 2023 considers DCM familial if one or more first- or second-degree relatives have DCM, or if an otherwise unexplained SCD has occurred in a first-degree relative at any age with an established diagnosis of DCM.^[1]

^[1]

Causes: genetic, acquired and both

ESC 2023 calls the aetiology of DCM highly heterogeneous, with inherited (genetic or familial) and acquired causes.^[1] Direct causes include pathogenic gene variants, toxins, auto-immunity, infections, storage diseases and tachyarrhythmias.^[1]

Only 30–40% of DCM cases are attributable to pathogenic rare variants, with a substantial polygenic or common-variant contribution (ESC 2023).^[1] Causative variants occur in up to 40% of patients with DCM in contemporary cohorts and in 10–15% of chemotherapy-induced, alcoholic or peripartum DCM.^[1] They are commoner in familial DCM but are also found in over 20% of non-familial cases.^[1]

• ESC 2022 states that pathogenic variants are identified in 25–55% of patients with DCM; truncating titin (TTN) variants are the most frequent, followed by LMNA, sarcomeric and desmosomal variants.^[3]

Acquired modifiers such as pregnancy, hypertension, excessive alcohol use and other toxins may aggravate or trigger DCM.^[1]

• An acquired cause does not exclude an underlying causative variant, and a variant may need an additional acquired cause or modifier to manifest (ESC 2023).^[1]

^[1]

• AHA/ACC/HFSA 2022 notes that HF caused by sarcoidosis, hemochromatosis, thyroid disease, acromegaly, connective tissue disease, tachycardia-induced cardiomyopathy or an arteriovenous fistula, among others, requires specific therapeutic approaches.^[4]
• It defines peripartum cardiomyopathy as systolic dysfunction, typically LVEF <45%, often with LV dilation, in late pregnancy or early postpartum with no other identifiable cause, and recognises a genetic contribution, particularly titin variants.^[4]

^[1]

Diagnostic work-up

• ESC 2023 lists the key elements of the work-up for every patient with DCM as including clinical and family history, laboratory tests, ECG, Holter monitoring, cardiac imaging and genetic testing.^[1]

Echocardiography is central to diagnosis; CMR adds morphological and prognostic detail.^[1]

^{[1] [4] [2]}

• In patients with established HF, the ESC 2026 heart failure rows apply; among the ESC guidelines checked for this topic, the ESC 2023 rows remain the rows for cardiomyopathy without established HF.^[2][1]

What CMR adds

• In DCM, ESC 2023 says CMR can show myocardial oedema, which may suggest a myocarditic or inflammatory cause, and LGE, whose presence, extent and distribution may exclude infarction and point to specific aetiologies.^[1]
• Its examples are subepicardial LGE after myocarditis, patchy LGE in sarcoidosis, extensive inferolateral LGE in dystrophinopathies, septal mid-wall LGE in LMNA carriers, and ring-like LGE in DSP and FLNC-truncating variant carriers.^[1]

LGE distribution and extent hold prognostic value for both arrhythmia and heart failure severity.^[1] FDG-PET with focal or focal-on-diffuse uptake, especially with extracardiac uptake, can be useful in suspected cardiac sarcoidosis.^[1]

Endomyocardial biopsy

^{[1] [2] [4]}

Genetic testing in the patient

• ESC 2023 says a causative variant allows better prediction of outcome and progression, may contribute to device indications, informs genetic counselling and allows family screening.^[1]

Genetic testing can therefore be beneficial in all patients with DCM, including children and those with alcohol- or chemotherapy-induced and peripartum DCM.^[1] Age should not be a limiting factor when deciding who is tested.^[1] Where resources are limited, scores such as the Madrid DCM Genotype Score may be considered to prioritise testing.^[1]

^{[1] [2] [4] [5]}

• ESC 2022 notes that LMNA variants make up 5–10% of all DCM and are associated with early atrial and ventricular arrhythmias, premature conduction disease, a high risk of SCD and progression to end-stage heart failure.^[3]
• ESC 2023 adds that conduction defects or arrhythmia may be an early presentation of certain genetic subtypes, so more detailed evaluation should be considered with variants such as LMNA, EMD or DES.^[1]

Family screening and cascade testing

ESC 2023 says all first-degree relatives of patients with cardiomyopathy should be offered clinical screening with ECG and cardiac imaging (echo and/or CMR).^[1] The next step depends on whether the proband carries a pathogenic or likely pathogenic (P/LP) variant.^[1]

^{[1] [1] [4]}

How often and for how long

• For carriers of P/LP variants associated with cardiomyopathies, or where familial disease is shown, ESC 2023 says cardiac screening should be offered from childhood to old age.^[1]
• Its proposed interval is every 1–3 years with ECG and echo (plus additional tests where considered appropriate) before 60 years of age, then every 3–5 years.^[1]
• ESC 2023 says these recommendations apply to families affected by cardiomyopathy; the penetrance of similar variants identified outside this context is likely to be much lower, and the benefits and harm of screening and surveillance remain under evaluation.^[1]

In families with confirmed genetic cardiomyopathies, disease-penetrance studies show a similar sigmoid pattern of expression throughout life.^[1]

• In these families, penetrance is about 5% in the first decade, then 10–20% per decade from the second to the seventh decade, flattening to 5–10% in the last decades.^[1]

Up to 25% of diagnoses can be made after 65 years in some populations.^[1] In most cardiomyopathies penetrance is incomplete, reaching 70–90% by age 70 in affected families.^[1] With some exceptions using the current diagnostic criteria, penetrance in women has been shown to be delayed by 10 years compared with men.^[1]

• In DCM, if the proband is the only affected family member, relatives follow the same age-based intervals; where no variant has been found, stopping surveillance could be considered in first-degree relatives ≥50 years old with normal ECG and imaging (ESC 2023).^[1]
• ESC 2023 says cardiac MRI should also be considered in relatives with normal function who carry variants linked to increased SCD risk, such as FLNC, DES, DSP, PLN, LMNA, TMEM43 or RBM20.^[1]

AHA/ACC/HFSA 2022 says first-degree relatives of affected probands should undergo periodic echo and ECG screening unless shown to be free of the familial variant.^[4]

• ESC 2026 heart failure suggests regular follow-up and cardiac screening for carriers of DCM, NDLVC or ARVC variants according to the ESC 2023 cardiomyopathy recommendations.^[2]

^[1]

Heart failure treatment and follow-up

• ESC 2023 says the recommendations of the ESC heart failure guidelines it cites are generally independent of aetiology, and its Task Force recommends applying the 2021 ESC heart failure guideline to symptom management in DCM; the rows below come from the newer ESC 2026 heart failure guideline.^[1]

It notes that symptoms of heart failure can appear many years after the first ECG or echo abnormalities.^[1] Recommendations for asymptomatic LV dysfunction or dilatation are scarce, a challenge in genetic DCM, where many patients are young and found through cascade screening.^[1]

^[2]

• The full drug and device pathway, including CRT, is in Heart failure with reduced ejection fraction and ICD and CRT indications in heart failure.

^[1]

• ESC 2026 cardiac rehabilitation recommends cognitive behaviour therapy for patients with CAD, HF and patients with an implanted ICD, to improve mental functioning (depression, anxiety, HRQoL) and reduce cardiovascular risk (Class I, Level B1).^[11]

Preventing sudden death

ESC 2023 says ICDs treat potentially lethal ventricular arrhythmias and prevent SCD but carry complications, particularly in young patients who will need several replacements.^[1] Randomized trials of primary prevention ICD in DCM included only patients with LVEF ≤35%, with conflicting results.^[1]

• ESC 2023 reports that a trial of ischaemic and non-ischaemic symptomatic HF showed lower mortality, whereas trials including only patients without CAD did not significantly improve overall mortality despite an absolute reduction in SCD, and subgroup analysis suggested a survival benefit in patients ≤70 years.^[1]
• ESC 2023 reports a recent meta-analysis of ICDs in DCM that found a survival benefit, although modest compared with patients with CAD and LVEF ≤35%.^[1]
• ESC 2022 reports that six RCTs tested primary prevention ICD in DCM with HFrEF; a meta-analysis of the five published in 2002–2005 (CAT, AMIOVIRT, DEFINITE, COMPANION and SCD-HeFT; 1854 patients with DCM) found a 31% lower all-cause mortality with ICD than with medical therapy (RR 0.69, 95% CI 0.55–0.87).^[3]

^[9]

• ESC 2023 says LVEF ≤35% is an independent marker of all-cause and cardiac death in DCM but only modestly identifies those at higher SCD risk, so other factors should be considered.^[1]
• ESC 2023 says recent natural history studies suggest that patients with disease-causing variants in PLN, DSP, LMNA, FLNC, TMEM43 and RBM20 have substantially higher rates of major arrhythmic events than other causes of DCM, regardless of LVEF.^[1]

ESC 2026 heart failure adds that fibrosis extent, genotype and other factors may help arrhythmic risk stratification in cardiomyopathies.^[2]

^{[1] [2] [4] [5]}

• For DCM with symptomatic HF and LVEF ≤35%, the ESC 2026 heart failure row is the newer ESC row; the ESC 2023 cardiomyopathy row for DCM, symptomatic HF and LVEF ≤35% despite >3 months of OMT carried Class IIa, Level A.^[2][1]
• Among the ESC guidelines checked for this topic, the ESC 2023 secondary prevention row remains the cardiomyopathy-guideline row; in patients with HF the ESC 2026 row (Class I, Level A) applies.^[1][2]

^[1]

• ESC 2023 says the use of validated SCD algorithms or scores, where available, as aids to shared decision-making when offering ICD implantation should be considered in patients with DCM (Class IIa, Level B); its footnote attributes the difference in class across phenotypes to the different performance of available models.^[1]

Its narrative adds that, where gene-specific risk scores exist, they should be used to guide primary prevention ICD implantation.^[1] In patients without a high-risk genotype and LVEF >35%, the presence and extent of LGE can help risk stratification.^[1]

• ESC 2022 had said an ICD should be considered in DCM or HNDCM with a pathogenic LMNA variant when the estimated 5-year risk of life-threatening ventricular arrhythmia is ≥10% and NSVT, LVEF <50% or AV conduction delay is present (Class IIa, Level B).^[3]
• ESC 2023 notes that 10% threshold but recommends shared decision-making based on real-world data and on the patient’s preferences, beliefs, circumstances and values, and its genotype rows above are the newer ESC rows.^[1]

^{[1] [2] [1]}

LMNA variants with conduction disease

^{[7] [1] [8]}

Ventricular arrhythmia in DCM

^[3]

Recovery, remission and stopping treatment

AHA/ACC/HFSA 2022 defines HF with improved EF (HFimpEF) as a previous LVEF ≤40% and a follow-up LVEF >40%.^[4] Its writing committee chose HFimpEF, a subgroup of HFrEF, rather than “recovered EF” or HFpEF, even when LVEF later exceeds 50%.^[4] ESC 2026 defines improved LVEF as an absolute increase of at least 10% to a value above 40% (often normal).^[2] Patients with HFrEF and improved LVEF have a more favourable prognosis but should still receive optimal medical therapy except in selected patients.^[2]

ESC 2026 says LV function and structure do not fully normalize in most patients, and symptoms and biomarker abnormalities may persist or recur.^[2] Many patients deemed recovered relapse after FMT is withdrawn.^[2]

• LV function is more likely to improve in DCM caused by myocarditis or TTN variants (ESC 2022), and ESC 2023 cites data linking TTN-truncating variants with LVEF recovery.^[3][1]

^[10]

• ESC 2026 also reports CATHEDRAL-HF, a single-centre open-label pilot that randomized 60 similar patients to phased withdrawal of FMT (excluding carvedilol) or continued FMT, and in which withdrawal did not increase HFrEF relapse.^[2]

It concludes that there is no solid evidence that improvement reflects actual recovery rather than remission, which requires FMT to be maintained.^[2]

^{[2] [4]}

ESC 2026 says some causes of HF might be reversible, giving as examples Takotsubo syndrome, arrhythmia-associated HF, myocarditis and HF from abnormal cardiac conduction.^[2]

• Where a completely reversible cause is suspected and LV function, volume and natriuretic peptides have fully normalized after treating it, a gradual trial of FMT withdrawal might be considered, with caution and only in exceptional cases at the patient’s request.^[2]

ESC 2022 adds that cardiac function and clinical status must be re-evaluated after 3 months of OMT before a primary prevention ICD.^[3]

^{[4] [2] [10]}

Exercise and sport

^[1]

• The ESC 2022 row against high-intensity exercise and competitive sport in DCM or HNDCM with an LMNA variant (Class III, Level C) agrees with the newer ESC 2023 row for pathogenic LMNA variants.^[3][1]

Cardiac rehabilitation

ESC 2026 cardiac rehabilitation says specific data on CR outcomes in DCM are scarce and most data derive from CR for HF.^[11] It adds that there are no studies of the benefit of CR in laminopathies.^[11]

^[11]

• ESC 2026 heart failure, published at the same time, recommends personalized exercise training in the context of multidisciplinary exercise-based cardiac rehabilitation for all stable patients with HF, unless there are specific contraindications (Class I, Level B1), and outside it on a long-term basis (Class I, Level B2), to improve exercise capacity and QoL and reduce the risk of all-cause hospitalization.^[2]

• Beside these rows, ESC 2023 says high-intensity exercise, including competitive sport, is not recommended in symptomatic individuals, those with LVEF ≤40%, exercise-induced arrhythmias or pathogenic LMNA or TMEM43 variants (Class III, Level C).^[1]

Pregnancy

• ESC 2025 lists severe LV systolic dysfunction, NYHA class III/IV, RV failure, sustained ventricular arrhythmias, AF and severe mitral regurgitation as high-risk criteria for major adverse cardiovascular events during pregnancy in women with DCM or NDLVC.^[6]
• ESC 2025 says ACE-Is, ARBs, ARNIs, MRAs, ivabradine and SGLT2 inhibitors are not recommended during pregnancy due to adverse foetal effects (Class III, Level C).^[6]

^[6]

ESC 2025 recommends pre-conception genetic counselling in couples with heritable CVD, whether or not genetic testing is considered (Class I, Level C).^[6]

• ESC 2026 heart failure has the same beta-blocker row for pregnant women with HFrEF (Class I, Level C), adding that the switch is to reduce the risk of adverse foetal events and a lower birth weight.^[2]

• ESC 2025 says genetic counselling and testing should be considered in women with peripartum cardiomyopathy (Class IIa, Level C), as ESC 2023 did (Class IIa, Level C).^[6][1]

• When a reversible course of HF is assumed in peripartum cardiomyopathy, ESC 2025 says treatment in accordance with HF guidelines should be considered for at least 12 months after complete LV recovery (normalization of LV volumes and EF) (Class IIa, Level C).^[6]

• ESC 2025 reports variants in TTN, FLNC, BAG3 and DSP in up to 15% of women with peripartum cardiomyopathy, TTN-truncating variants being the most common.^[6]

• Peripartum cardiomyopathy and pregnancy care are covered in Cardiovascular disease in pregnancy.

Pitfalls

• Stopping at an acquired cause: in ESC 2023, finding one does not exclude an underlying causative variant, and genetic testing can benefit patients with alcohol- or chemotherapy-induced and peripartum DCM.^[1]
• Testing a phenotype-negative relative with no confident genetic diagnosis in the family: diagnostic genetic testing is not recommended (ESC 2023, Class III, Level C).^[1]
• Discharging relatives after one normal screen when no variant is known: regular long-term clinical evaluation of first-degree relatives should be considered (ESC 2023, Class IIa, Level C).^[1]
• Using LVEF alone for sudden death risk: ESC 2023 says the genotype should be considered in estimating SCD risk in DCM (Class IIa, Level B), and notes that recent natural history studies suggest patients with disease-causing variants in PLN, DSP, LMNA, FLNC, TMEM43 and RBM20 have a substantially higher rate of major arrhythmic events than other causes of DCM, regardless of LVEF.^[1]
• Stopping heart failure drugs after LVEF improves: continuation of FMT at the highest tolerated doses is recommended (ESC 2026, Class I, Level C); in TRED-HF, an open-label pilot randomised trial in asymptomatic patients with previous DCM whose LVEF had recovered from <40% to ≥50% with normalised LVEDV and NT-proBNP <250 ng/L, 44% of those assigned to phased withdrawal met the relapse endpoint over the first 6 months, compared with none of those who continued treatment.^[2][10]
• Implanting an ICD for primary prevention before re-assessing cardiac function and clinical status after 3 months of OMT (ESC 2022).^[3]
• Routine endomyocardial biopsy in every HF work-up: AHA/ACC/HFSA 2022 says it should not be performed because of the risk of complications (3: Harm, C-LD).^[4]

Evidence, guidelines and regional differences

^{[2] [1] [4]}

• The two bodies differ on primary prevention ICD in non-ischaemic disease with LVEF ≤35% and NYHA class II–III symptoms: ESC 2026 says it should be considered despite ≥3 months of optimal FMT, provided patients are expected to survive longer than 1 year with good functional status (Class IIa), whereas AHA/ACC/HFSA 2022 recommends it on chronic GDMT when there is a reasonable expectation of meaningful survival for >1 year (COR 1).^[2][4]
• When LVEF is above 35%, ESC 2023 weighs the genotype and additional risk factors: with a high-risk genotype, an ICD should be considered in the presence of additional risk factors, for which it points to the gene-specific predictors of its Table 21 (Class IIa, Level C); without one, an ICD may be considered in the presence of additional risk factors, which include syncope and LGE on CMR (Class IIb, Level C).^[1]

In Australia and New Zealand

• NHFA/CSANZ 2018 says genetic testing may be considered in DCM with conduction disease, for prognostic stratification and to guide ICD decisions (weak recommendation for; low quality of evidence).^[5]
• It says an ICD may be considered for primary prevention in HFrEF with DCM and LVEF ≤35%, to decrease mortality (weak recommendation for; low quality of evidence).^[5]
• Its rationale reports that DANISH randomised 556 patients with DCM and LVEF ≤35% to ICDs vs medical therapy and found no significant difference in total mortality, and that meta-analyses showed lower all-cause mortality with ICDs in DCM, with the greatest benefit in younger patients without CRT.^[5]
• As practice advice, it says CMR with LGE may be considered in DCM to provide prognostic information and guide ICD decisions.^[5]
• The CSANZ Position Statement on the Diagnosis and Management of Familial Dilated Cardiomyopathy (Heart Lung Circ 2017, PMID 28655534) has no PubMed abstract and is not held as text, so it was not checked for this topic.
• A 2020 Med J Aust item clarifying the Australian heart failure guideline recommendation on primary prevention defibrillators in non-ischaemic cardiomyopathy (PMID 32200548) has no PubMed abstract and is not held as text, so it was not checked for this topic.

Guidelines checked for this topic

• Rows on this page come from the ESC 2023 cardiomyopathies, ESC 2026 heart failure, ESC 2022 ventricular arrhythmias, ESC 2021 pacing, ESC 2025 pregnancy and ESC 2026 cardiac rehabilitation guidelines.^{[1][2][3][7][6][11]}

• North American rows come from the 2022 AHA/ACC/HFSA heart failure guideline (JACC version) and the 2018 ACC/AHA/HRS bradycardia guideline; the ANZ rows come from the NHFA/CSANZ 2018 heart failure guideline.^[4][8][5]

• Trial results are quoted from the PubMed abstracts of DANISH and TRED-HF.^[9][10]

• A row called the newer one is so among the guidelines in the census below (census 2026-10-23).

• The 2026 correction to the ESC 2023 cardiomyopathy guideline (PMID 42605809) corrects childhood HCM values in its Table 4 and an iron-status cell in its Table 22; neither is used on this page.

• The held guidelines below were checked, and no row from them is used here; each line gives the reason.

• Within the ESC 2022 ventricular arrhythmia guideline, the DCM/HNDCM rows on genetic testing, CMR, primary prevention ICD and screening of relatives are not used because the ESC 2023 cardiomyopathy rows on the same questions are newer.^[3][1]

• ESC 2020 sports cardiology (PMID 32860412): its recommendation table on exercise in DCM is held only as an image, and the ESC 2023 cardiomyopathy exercise rows used here are newer.

• AHA/ACC 2025 competitive sports participation (PMID 39973614): a scientific statement, so its sports-participation considerations for athletes with DCM or a DCM variant are not given a class here; the ESC 2023 exercise rows are used instead.

• ESC 2025 myocarditis and pericarditis (PMID 40878297) and the myocarditis statements (ACC 2024 expert consensus decision pathway, PMID 39665703; AHA 2021 myocarditis in children, PMID 34229446; AHA 2020 fulminant myocarditis, PMID 31902242): their rows concern patients with myocarditis, covered in the myocarditis topic.

• ESC 2021 pacing (PMID 34455430): only its LMNA row is used; its CRT and pacing rows in heart failure are covered in the devices topic.

• AHA/ACC/HRS 2017 ventricular arrhythmias (PMID 29084731, not on the register): it has nonischemic cardiomyopathy sections, but its rows are not used; the US rows here come from the 2022 AHA/ACC/HFSA heart failure and 2018 bradycardia guidelines, and for primary prevention ICD the 2022 heart failure row is the newer US row.

• NHFA/CSANZ 2018 heart failure summary in Med J Aust (PMID 30067937): a summary of the Heart Lung Circ guideline whose rows are used here.

• ESC 2019 supraventricular tachycardia (PMID 31504425): tachycardia-induced cardiomyopathy appears in its narrative as a reversible cause of DCM, with no DCM row; ACC/AHA 2020 valvular heart disease (PMID 33332150): DCM appears in narrative on secondary mitral and tricuspid regurgitation, with no DCM row.

• ACC/AHA/HRS 2018 bradycardia (PMID 30412709): only its lamin A/C row is used; its cardiac MRI row in LBBB names other dilated cardiomyopathies among suspected causes in patients with normal LV function, a population outside this page; AHA/ACC 2023 chronic coronary disease (PMID 37471501): CCTA in suspected nonischemic cardiomyopathy is a coronary work-up question, outside this topic.

• AHA/ACC 2024 hypertrophic cardiomyopathy (PMID 38718139), the cardiac amyloidosis documents (ESC 2021 working group, PMID 33825853; Australia–New Zealand 2024, PMID 38570258), the syncope guidelines (ESC 2018, PMID 29562304; ACC/AHA/HRS 2017, PMID 28280231), HRS/APHRS/LAHRS 2023 physiologic pacing (PMID 37283271), the 2024 EHRA/HRS/APHRS/LAHRS consensus (PMID 38587017), ESC 2015 pericardial diseases (PMID 26320112) and ACC/AHA/HRS 2015 SVT (PMID 26399663): other diseases or devices, outside this topic.

• Rhythm guidelines (ESC 2024, PMID 39210723, and ACC/AHA/ACCP/HRS 2023, PMID 38033089, atrial fibrillation) and ESC 2020 adult congenital heart disease (PMID 32860028): DCM appears only in passing, with no DCM row.

• Coronary guidelines (ESC 2024 chronic coronary syndromes, PMID 39210710; ESC 2023, PMID 37622654, and ACC/AHA 2025, PMID 40014670, acute coronary syndromes; the NHFA/CSANZ 2025 ACS summary, PMID 41693087; AHA/ACC/ASE/CHEST/SAEM/SCCT/SCMR 2021 chest pain, PMID 34709879) and the Fourth (PMID 30571511) and Fifth (PMID 42661425) universal definitions of MI: coronary disease, outside this topic.

• Other register guidelines (ESC 2022 non-cardiac surgery, PMID 36017553; AHA/ACC 2024 perioperative, PMID 39316661; ESC/EACTS 2025 valvular heart disease, PMID 40878295; ESC 2023 endocarditis, PMID 37622656, and diabetes, PMID 37622663; ESC 2024 and AHA/ACC 2025 hypertension, PMIDs 39210715 and 40811497; ESC 2021 prevention, PMID 34458905; ESC/EAS 2019 and 2025 and ACC/AHA 2026 lipids, PMIDs 31504418, 40878289 and 41824552; ESC 2019 and AHA/ACC 2026 pulmonary embolism, PMIDs 31504429 and 41712677; ESC/ERS 2022 and the 2024 pulmonary hypertension documents, PMIDs 36017548, 39209475 and 39209476; ESC 2024 and ACC/AHA 2022 aortic disease, PMIDs 39210722 and 36322642; ACC/AHA/HRS/ISACHD/SCAI 2025 adult congenital heart disease, PMID 41411375; AHA/ACC/ADA/ASN 2026 cardiovascular-kidney-metabolic, PMID 42263157): no DCM row, outside this topic.

• The documents in this list are not used; each line gives the held status recorded in the census for this topic.

• The 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure (PMID 34447992) are not held as text in the evidence caches, so they were not checked for this topic.

• The 2023 Focused Update of the 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure (PMID 37622666) are not held as text in the evidence caches, so they were not checked for this topic.

• The 2022 ESC Guidelines on cardio-oncology (PMID 36017568) are not held as text in the evidence caches, so they were not checked for this topic.

• The 2020 ESC Guidelines for the diagnosis and management of atrial fibrillation (PMID 32860505) are not held as text in the evidence caches, so they were not checked for this topic.

• The Guidelines for the diagnosis and management of hypertrophic cardiomyopathy (PMID 22000299) are not held as text in the evidence caches, so they were not checked for this topic.

• Only the PubMed abstract of the Workup and management of rhythm disorders in myocarditis and inflammatory cardiomyopathy: a clinical consensus statement of the European Heart Rhythm Association and the Heart Failure Association of the ESC, the ESC Working Group on Myocardial & Pericardial Diseases, the European Association of Preventive Cardiology of the ESC, the Heart Rhythm Society, the Asian Pacific Heart Rhythm Society, and the Latin American Heart Rhythm Society (PMID 42669046) is held; its full text is not held and was not checked for this topic.

• The NHFA/CSANZ Australian Clinical Guidelines for the Diagnosis and Management of Atrial Fibrillation 2018 (PMID 30077228) are not held as text in their version of record, so they were not checked for this topic.

• The NHFA/CSANZ Comprehensive Australian Clinical Guideline for Diagnosing and Managing Acute Coronary Syndromes 2025 (PMID 40180468) is not held as text in its version of record, so it was not checked for this topic.

• The 2026 ESC Guidelines for the management of cardiovascular disease and chronic kidney disease, in collaboration with the European Renal Association (ERA) (PMID 42661426) are not held as text in their version of record, so they were not checked for this topic.

• Only the PubMed abstract of the 2026 AHA/ACC/ACS/ASNC/HRS/SCA/SCCT/SCMR/SVM Guideline for Perioperative Cardiovascular Management for Noncardiac Surgery (PMID 42804570) is held; its full text is not held and was not checked for this topic.

• The 2018 ESC/EACTS Guidelines on myocardial revascularization (PMID 30165437) are not held as text in the evidence caches, so they were not checked for this topic.

• The 2019 ESC Guidelines for the diagnosis and management of chronic coronary syndromes (PMID 31504439) are not held as text in the evidence caches, so they were not checked for this topic.

• The 2020 ESC Guidelines for the management of acute coronary syndromes in patients presenting without persistent ST-segment elevation (PMID 32860058) are not held as text in the evidence caches, so they were not checked for this topic.

• The 2021 ESC/EACTS Guidelines for the management of valvular heart disease (PMID 34453165) are not held as text in the evidence caches, so they were not checked for this topic.

• The 2021 ACC/AHA/SCAI Guideline for Coronary Artery Revascularization (PMID 34882435) is not held as text in the evidence caches, so it was not checked for this topic.

• Only the PubMed abstract of the 2024 ACC/AHA/AACVPR/APMA/ABC/SCAI/SVM/SVN/SVS/SIR/VESS Guideline for the Management of Lower Extremity Peripheral Artery Disease (PMID 38743805) is held; its full text is not held and was not checked for this topic.

• The 2024 CSANZ Position Statement on Indications, Assessment and Monitoring of Structural and Valvular Heart Disease With Transthoracic Echocardiography in Adults (PMID 38749800) is not held as text in its version of record, so it was not checked for this topic; only its PubMed abstract is quotable.

• The JCS/JPCPHS 2025 Guideline on Pulmonary Hypertension and Pulmonary Embolism/Deep Vein Thrombosis (PMID 42386545) is not held as text in the evidence caches, so it was not checked for this topic.

• Only the PubMed abstract of the European Respiratory Society clinical practice guidelines update for the treatment of pulmonary arterial hypertension (PMID 42705705) is held; its full text is not held and was not checked for this topic.

• Only the PubMed abstract of the Pulmonary hypertension associated with left heart disease (PMID 39209478) is held; its full text is not held and was not checked for this topic.

• Only the PubMed abstract of the 2023 Australian guideline for assessing and managing cardiovascular disease risk (PMID 38623719) is held; its full text is not held and was not checked for this topic.

• Only the PubMed abstract of the A summary of the 2023 Society of Obstetric Medicine of Australia and New Zealand (SOMANZ) hypertension in pregnancy guideline (PMID 38763516) is held; its full text is not held and was not checked for this topic.

Exam pearls

• DCM thresholds in adults by echo (ESC 2023): LV end-diastolic diameter >58 mm in males, >52 in females; LVEDV index ≥75 mL/m² in males, ≥62 mL/m² in females; LVEF <50%.^[1]
• Familial DCM without conclusive genetics: a first- or second-degree relative with DCM, or unexplained SCD in a first-degree relative with established DCM (ESC 2023).^[1]
• Variant yield: up to 40% of DCM patients in contemporary cohorts, 10–15% of chemotherapy-induced, alcoholic or peripartum DCM, and over 20% of non-familial DCM (ESC 2023).^[1]
• Proposed screening interval for carriers of P/LP variants associated with cardiomyopathies, or familial disease, in families affected by cardiomyopathy: every 1–3 years with ECG and echo (plus additional tests where appropriate) before 60, then every 3–5 years (ESC 2023).^[1]
• High-risk genes for SCD in ESC 2023 Table 21: LMNA, FLNC-truncating and TMEM43 at 5–10% a year; PLN, DSP and RBM20 at 3–5% a year.^[1]
• DANISH (randomised controlled trial; symptomatic systolic HF not caused by coronary artery disease; median follow-up 67.6 months): prophylactic ICD was not associated with a significantly lower rate of death from any cause (HR 0.87; 95% CI 0.68 to 1.12), but sudden cardiac death was lower (4.3% versus 8.2%; HR 0.50).^[9]
• HFimpEF (AHA/ACC/HFSA 2022): previous LVEF ≤40% and follow-up LVEF >40%; ESC 2026 improved LVEF: absolute rise of at least 10% to above 40%.^[4][2]

References11ShowHide

1. [1]Arbelo E, et al. 2023 ESC Guidelines for the management of cardiomyopathies. Eur Heart J, 2023.PMID 37622657
2. [2]Køber L, et al. 2026 ESC Guidelines for the management of heart failure. Eur Heart J, 2026.PMID 42661420
3. [3]Zeppenfeld K, et al. 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J, 2022.PMID 36017572
4. [4]Heidenreich PA, et al. 2022 AHA/ACC/HFSA Guideline for the Management of Heart Failure: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. J Am Coll Cardiol, 2022.PMID 35379503
5. [5]Atherton JJ, et al. National Heart Foundation of Australia and Cardiac Society of Australia and New Zealand: Guidelines for the Prevention, Detection, and Management of Heart Failure in Australia 2018. Heart Lung Circ, 2018.PMID 30077227
6. [6]De Backer J, et al. 2025 ESC Guidelines for the management of cardiovascular disease and pregnancy. Eur Heart J, 2025.PMID 40878294
7. [7]Glikson M, et al. 2021 ESC Guidelines on cardiac pacing and cardiac resynchronization therapy. Eur Heart J, 2021.PMID 34455430
8. [8]Kusumoto FM, et al. 2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society. J Am Coll Cardiol, 2019.PMID 30412709
9. [9]Køber L, et al. Defibrillator Implantation in Patients with Nonischemic Systolic Heart Failure. N Engl J Med, 2016.PMID 27571011
10. [10]Halliday BP, et al. Withdrawal of pharmacological treatment for heart failure in patients with recovered dilated cardiomyopathy (TRED-HF): an open-label, pilot, randomised trial. Lancet, 2019.PMID 30429050
11. [11]Bäck M, et al. 2026 ESC Guidelines on cardiac rehabilitation. Eur Heart J, 2026.PMID 42661418