ICCnotes

Evidence-based clinical reference for inherited cardiac conditions, genetics, risk, treatment & guidelines

Dilated Cardiomyopathy (DCM)

Quick Summary

Definition: Left ventricular or biventricular dilatation and systolic dysfunction not explained by abnormal loading conditions or coronary artery disease.[1]

  • Prevalence: 1 in 250–400 (a common cause of HFrEF and a leading indication for heart transplantation)[1]
  • Key genes: TTN (truncating; commonest gene, 15–25% of familial DCM), LMNA (high arrhythmic risk), FLNC (arrhythmogenic)
  • Hallmark: LVEF <50% plus LV dilatation (LVEDD >58 mm males, >52 mm females), not explained by loading conditions or coronary disease
  • High-risk markers: LMNA/FLNC mutations, NSVT, LVEF <35%, extensive LGE
  • First-line Mx: Optimise foundational medical therapy (FMT, the 2026 ESC term for what was previously called GDMT) incl. ARNI/ACE-I/ARB + beta-blocker + MRA + SGLT2 inhibitor; ICD considered after optimized therapy and reassessment, integrating LVEF, genotype, scar and shared decision-making; transplant referral in appropriate cases if refractory to treatment

Aetiology

Monogenic (Mendelian): up to ~40% in contemporary cohorts, higher with a family history but over 20% without one (TTN, LMNA, FLNC)[1]

Acquired: common, exclude first: myocarditis, alcohol, tachycardia-mediated, peripartum, chemotherapy, thyroid, nutritional[1]

Complex (likely polygenic): part of "idiopathic" DCM after exclusion reflects polygenic susceptibility with environmental triggers[1]

Genetics

Inheritance: where a P/LP variant is found, predominantly autosomal dominant with age-related, incomplete penetrance (70–90% by age 70 in families with cardiomyopathy[1]; ≤30% in carriers identified in the general population[8]); some X-linked (e.g. DMD) and recessive forms

Genetic yield: P/LP variant in up to 40% of patients, higher in familial DCM but over 20% in non-familial DCM, and 10–15% in alcohol-, chemotherapy- or peripartum-associated DCM[1]; lower in patients of African ancestry (8% vs 26% of European ancestry in a US multicentre cohort)[39]

Major genes, arrhythmic risk and ESC 2023 ICD thresholds:[1]

Gene / protein% of DCM patients†PenetranceArrhythmic riskKey featuresESC 2023 predictors of SCD, and ICD threshold
LMNALamin A/C0.7–2.3%†[42]Phenotype in 61% of asymptomatic relatives over ~4 years[11]HighConduction disease before DCM; VT with preserved LVEF; mid-wall septal LGEAnnual SCD rate 5–10%. ESC directs risk estimation to the validated LMNA risk score (lmna-risk-vta.fr; Wahbi 2019), see Risk section, rather than a factor count[1]
FLNC (truncating)Filamin C2–4%[44]>97% over age 40[45]HighRing-like/circumferential LGE; VT with mild LV dysfunctionAnnual SCD rate 5–10%. ESC predictors: LGE on CMR, LVEF <45%. Consider at a higher LVEF than the standard HFrEF threshold, in specialist risk assessment[1]
TMEM43Transmembrane protein 43Rare; founder p.Ser358Leu[52]Full in p.Ser358Leu families[52]HighStrongly male-predominant; also classified within the ARVC spectrum, see that pageAnnual SCD rate 5–10%. ESC predictors: male sex alone; in females, any of LVEF <45%, NSVT, LGE on CMR, or >200 ventricular ectopics per 24h Holter[1]
DSPDesmoplakin1.4–1.9%†[42]Incomplete, age-dependentHighLV-dominant or biventricular; ring-like LGE; ARVC overlapAnnual SCD rate 3–5%. ESC predictors: LGE on CMR, LVEF <45%. Consider at a lower threshold than standard HFrEF criteria where VT and LV dysfunction coexist, in specialist risk assessment[1]
PLN p.Arg14delPhospholamban≤0.4%†*[42]Major event 43–70% and a risk feature 84–100% by age 70[50]Mod-HighFounder variant (Netherlands); low voltage ECG; variable progressionAnnual SCD rate 3–5%. ESC directs risk estimation to the variant-specific PLN risk score (plnriskcalculator.shinyapps.io); listed predictors are LVEF <45%, LGE on CMR and NSVT[1]
RBM20RNA-binding motif 20~3%[46]66% of carriers in affected families, age-related[47]Mod-HighEarly onset; high rates of atrial and ventricular arrhythmias; rapid progressionAnnual SCD rate 3–5%. ESC predictors: LGE on CMR, LVEF <45%[1]
DESDesmin1.4%[33]64% of carrier relatives[30]Mod-HighAV block / conduction disease in ~40%, often the first sign; subepicardial or ring-like LGE in case series; skeletal (myofibrillar) myopathy in a proportion; phenotype spans DCM, RCM and ACMSustained VA ~16% and HF events ~19% in pooled data; risk is carried by males (VA HR 2.3), whose outcomes match LMNA-tv and FLNC-tv. Not among the ESC 2023 tabulated high-risk genotypes; individualise ICD decisions on male sex, NSVT and LVEF ≤50%[30][31][33]
SCN5ANav1.5 (Na⁺ channel)1.7% of DCM families[48]Arrhythmia in 14 of 15 carriers; DCM age-related[48]ModerateConduction diseaseStandard (LVEF ≤35%)
TTN (A-band truncating)Titin12–25%[54]>95% over age 40 in affected families[43]StandardMost common; lower arrhythmic risk; reverse remodelling possibleStandard (LVEF ≤35%)
MYH7β-myosin heavy chain1.6–3.0%†[42]Incomplete, age-dependentStandard–Standard (LVEF ≤35%)
TNNT2Cardiac troponin T1.1–2.3%†[42]Incomplete, age-dependentStandard–Standard (LVEF ≤35%)
BAG3BAG cochaperone0.3–1.6%†[42]80% over age 40[49]StandardHF progression rather than arrhythmic risk; skeletal myopathyStandard (LVEF ≤35%)
Dystrophin (DMD)DystrophinNot estimated; X-linkedLV dysfunction inevitable in Duchenne males; female carriers 7–17% lifetime[53]StandardSee DMD/BMD sectionStandard (LVEF ≤35%)

†Excess of rare variants in DCM over a reference population, an estimate of the share of cases attributable to the gene: lower figure from an adult outpatient cohort (London and Singapore, n = 1,040), higher from a diagnostic referral cohort enriched for familial and early-onset DCM (up to n = 1,498)[42]; other frequencies are from the single cohorts cited. *15% of Dutch DCM index patients carry p.Arg14del, a founder variant[51]. Penetrance figures come from affected families and carrier registries; in carriers identified in the general population, combined clinical and subclinical penetrance was ≤30%[8]. – no gene-specific estimate.

Arrhythmic risk by genotype:

  • Annual SCD rates and predictors in the table are those tabulated for the ESC high-risk genotypes[1]
  • Where a validated variant-specific risk score exists (LMNA, PLN), it guides primary-prevention ICD implantation rather than a count of risk factors[1]
  • TTN, BAG3, SCN5A, MYH7, TNNT2 and dystrophin are not high-risk genotypes[1]

TTN truncating variants (TTNtv):

  • Interpretation is challenging; TTNtv in highly expressed (A-band) exons are the pathogenic class
  • Also carried by about 1.4% of a reference population, so a TTNtv alone does not establish disease[1]
  • Over-represented in alcohol-related (13.5% vs 2.9% of controls) and peripartum cardiomyopathy (10% vs 1.4%), and associated with LVEF recovery on treatment[1]

Pathophysiology:

  • Cytoskeleton: TTN, FLNC
  • Nuclear envelope: LMNA
  • Sarcomere: MYH7, TNNT2
  • RNA splicing: RBM20
  • Shared end-point: progressive cardiomyocyte loss, fibrosis, chamber dilatation and contractile dysfunction
LMNA Cardiomyopathy: Natural History (Hasselberg et al, Eur Heart J 2018[11])

Single-centre longitudinal study of 79 LMNA genotype-positive patients (mean age 42±16 yrs, EF 45±13%):

  • LMNA mutations found in 6.2% of familial DCM in Norway
  • Asymptomatic LMNA carriers: 9% annual incidence of newly documented cardiac phenotype; 61% developed phenotype by 4.4 years follow-up[11]
  • Of early-phenotype carriers: 95% had conduction/arrhythmic disease before DCM, AV block (32%), AF (23%), non-sustained VT (39%)
  • 72% overall developed AV block; 37% became pacemaker-dependent
  • Sustained ventricular arrhythmia predicted by: AV block (log-rank P=0.03) and LVEF <45%, AV block negative predictive value for VA = 100%
  • Heart transplantation in 19% of this cohort over 7.8±6.3 years, higher than typically seen in other DCM aetiologies[11]

Clinical implications: Early and regular follow-up of asymptomatic LMNA carriers from point of genetic diagnosis; ECG/Holter at every review; ICD consideration before LVEF falls to standard HFrEF threshold

Prevalence

1 in 250–400 individuals in the general population[1]

About 30% of probands have familial DCM when all living first-degree relatives are screened (12% with the incomplete screening usual in practice)[40]; a pathogenic or likely pathogenic variant is identifiable in up to 40% of patients[1]

Most common indication for cardiac transplantation

Wide age range at presentation (childhood to elderly)

Population-level epidemiology (UK Biobank, Shah et al 2022[8]): Among 18,665 individuals who underwent whole-exome sequencing, ECG and CMR, 7.8% carried ≥1 putative pathogenic variant in 44 DCM genes; over 90% of these carriers had no known history of DCM. Combined clinical/subclinical penetrance was ≤30% across all three variant-filtering strategies. The most common early DCM manifestation was arrhythmia or conduction disease (15.2%), occurring before ventricular dilation or dysfunction, highlighting the importance of ECG surveillance in variant carriers.

Diagnosis

Diagnostic Criteria (2023 ESC): both features are required.

  • LV systolic dysfunction: LVEF <50%, global or regional[1]
  • LV dilatation: LV end-diastolic dimension or volume more than 2 z-scores above the population mean, corrected for body size, sex and age. In adults this corresponds to an LV end-diastolic diameter >58 mm in males and >52 mm in females, or an LV end-diastolic volume index ≥75 mL/m² in males and ≥62 mL/m² in females on echocardiography[1]
  • Not explained solely by abnormal loading conditions (hypertension, valve disease, congenital heart disease) or coronary artery disease[1]

Related definitions:

  • Isolated left ventricular dilatation: LV dilatation with a normal ejection fraction, in the absence of athletic remodelling or another environmental cause. This is not itself a cardiomyopathy, but may represent an early manifestation of DCM[1]
  • Right ventricular involvement: RV dilatation and dysfunction may be present but are not required for the diagnosis. Where dilatation or wall motion abnormality is confined to, or predominantly affects, the right ventricle, consider ARVC instead[1]
  • Diagnosis in a first-degree relative: the threshold is lower than in the index patient. Isolated LV dilatation with preserved systolic function, or LV dilatation in the presence of the familial causative variant, is sufficient for a diagnosis of DCM in a relative. Lesser electrocardiographic or imaging abnormalities in the context of a family history are suggestive of disease and warrant close follow-up rather than a diagnosis[1]

Clinical Presentation:

  • Heart failure symptoms: dyspnea, fatigue, edema
  • Arrhythmias: AF, VT, heart block
  • Thromboembolic events
  • Sudden cardiac death (particularly in LMNA and FLNC)
  • May be asymptomatic with incidental finding

Investigations

First-line:[1]

  • 12-lead ECG: AF, LBBB, Q waves; AV block (LMNA, DES, sarcoidosis); low limb-lead voltages (PLN, DSP)
  • Transthoracic echocardiography (LVEF, chamber dimensions, valves, RV function)
  • NT-proBNP
  • 24-hour or longer ambulatory monitoring (NSVT, AF, AV block)

Aetiological work-up (acquired causes first):[1]

  • History: alcohol and drug use, chemotherapy (anthracyclines, trastuzumab) and immune checkpoint inhibitors, recent viral illness, pregnancy, and sustained tachyarrhythmia
  • Blood tests: thyroid function, ferritin and transferrin saturation, renal and liver function, HbA1c, CK (neuromuscular disease, dystrophinopathy, DES, LMNA), and HIV or other infection where relevant
  • Coronary assessment to exclude ischaemic heart disease: CT coronary angiography, or invasive angiography where the pre-test probability is higher

Cardiac MRI (recommended at baseline):[1][9]

  • Volumes and LVEF
  • LGE pattern: septal mid-wall fibrosis is typical of non-ischaemic DCM and prognostic. Subepicardial or ring-like LGE is associated with DSP and FLNC (also DMD)[35][36][37]; inferolateral subepicardial LGE is typical of PLN p.Arg14del[41]; LMNA may show septal mid-wall LGE but without a genotype-specific distribution. In one multicentre cohort LGE was rare with RBM20, TNNT2 and MYH7 (5%, 0% and 20%), despite the arrhythmic risk of RBM20[37]. Subendocardial or transmural LGE in a coronary territory indicates ischaemic scar
  • T2 and T1 mapping: oedema suggests myocarditis, diagnosed on CMR by at least one T2-based and one T1-based criterion; recurrent inflammatory episodes are a feature of DSP cardiomyopathy[34][36]
  • LGE presence, location and extent inform SCD risk beyond LVEF (see Risk Stratification)[9]

Specialist investigations:

  • Genetic testing (R132 panel), recommended in patients meeting DCM criteria because it affects arrhythmic risk and family screening[1]
  • FDG-PET when cardiac sarcoidosis is suspected (AV block, VT, patchy LGE, extracardiac disease)[1]
  • Endomyocardial biopsy in selected cases: fulminant or suspected giant-cell myocarditis, sarcoidosis, or infiltrative disease
  • CPET for advanced heart failure and transplant assessment
  • Screening for metabolic/storage diseases if indicated

Treatments

1. General measures:

  • Treat any identified reversible/acquired cause (e.g. alcohol cessation, rate control of a tachyarrhythmia, correction of nutritional deficiency)
  • Fluid and weight monitoring, dietary sodium advice, routine heart-failure vaccination (influenza, pneumococcal)
  • Structured exercise-based cardiac rehabilitation where available
  • Genetic counselling and family cascade testing, see the Genetic Testing page

2. Medical therapy:

  • Foundational medical therapy: RAS inhibitor or ARNI, beta-blocker, MRA and SGLT2 inhibitor[26]
  • Ejection fraction bands: HFrEF is LVEF <50%, HFpEF ≥50%[26]. Foundational medical therapy applies across the HFrEF range, though no randomised trial has tested beta-blockers or ACE-I/ARNI/ARB exclusively at LVEF 41–49%; the doses below are those from the trials that established them[26]. LVEF <50% is also the diagnostic threshold for DCM itself[1], so the same figure carries two meanings here — one defines the disease, the other the group treated for heart failure.
  • Therapy that extends beyond the HFrEF range: an MRA is recommended in symptomatic heart failure independent of LVEF — steroidal in HFrEF, steroidal or non-steroidal in HFpEF (Class I)[26]. Semaglutide or tirzepatide should be considered at LVEF ≥45% with BMI ≥30 kg/m², regardless of diabetes status, to reduce weight and improve exercise capacity and quality of life — not for mortality or hospitalisation (Class IIa)[26]. Digoxin/digitoxin, durable mechanical circulatory support and transcatheter edge-to-edge mitral repair also carry stronger recommendations[26]. These derive from general heart-failure populations and do not extend automatically to a sarcomeric, infiltrative or genetic phenotype; hypertrophic cardiomyopathy and cardiac amyloidosis are managed under their own pathways[26].
  • Early disease expression versus an unaffected carrier: in a relative with early disease, first-line heart-failure therapy (ACE inhibitor or ARB, beta-blocker, MRA) may be considered to slow progression of LV dilatation and dysfunction (Class IIb[1]). In a genotype-positive relative with no phenotype there is no evidence supporting any drug to prevent disease developing, and none should be started; the EARLY-Gene trial is testing this question. Surveillance, not treatment, is the intervention[1]. A carrier with a structurally normal heart and normal biomarkers is Stage A (at risk): surveillance and control of modifiable risk factors, no drug therapy[26]. Structural change, abnormal function or a raised natriuretic peptide makes them Stage B (pre-heart failure) while still asymptomatic. Once the LVEF is reduced, Stage B is treated as asymptomatic LV systolic dysfunction: a beta-blocker is recommended at LVEF <50% and an ACE inhibitor (or ARB) at LVEF ≤40% (Class I[26]).
  • ACE inhibitor / ARB / ARNI:
    • Ramipril: start 1.25–2.5 mg once daily; uptitrate every 2 weeks → target 10 mg once daily (or 5 mg bd)
    • Lisinopril: start 2.5–5 mg once daily → target 20–35 mg once daily[7]
    • Sacubitril/valsartan (Entresto®)[2][12] (PARADIGM-HF), PREFERRED if LVEF ≤40%, tolerating ACEi/ARB:
      • Start 24/26 mg twice daily; leave 36-hour washout after last ACEi dose
      • Double dose every 2–4 weeks as tolerated → target 97/103 mg twice daily
      • Monitor BP, K⁺ and eGFR; eGFR <30 ml/min/1.73m² is not an automatic stop (UK SmPC: use with caution, starting at 24/26 mg twice daily); reduce or interrupt for symptomatic hypotension, hyperkalaemia or significant renal decline
    • Candesartan (if ACEi-intolerant), start 4–8 mg once daily → target 32 mg once daily
  • Beta-blockers (mortality benefit established by MERIT-HF[17], CIBIS-II[18] and COPERNICUS[19]):
    • Bisoprolol: start 1.25 mg once daily; uptitrate every 2 weeks → target 10 mg once daily
    • Carvedilol: start 3.125 mg twice daily; uptitrate every 2 weeks → target 25 mg twice daily (50 mg bd if >85 kg)
    • Metoprolol succinate (CR/XL): start 12.5–25 mg once daily → target 200 mg once daily
    • Only initiate when euvolaemic; do not start in acutely decompensated HF
  • Mineralocorticoid receptor antagonist (MRA) (RALES[15], EMPHASIS-HF[16]):
    • Eplerenone: start 25 mg once daily → target 50 mg once daily; preferred post-MI or in males (avoids gynaecomastia)
    • Spironolactone: start 25 mg once daily → target 25–50 mg once daily
    • Monitor K⁺ and eGFR at 1–2 weeks after initiation; halve the dose if K⁺ >5.5 mmol/L or eGFR falls below 30, stop if K⁺ >6.0 mmol/L, and review with specialist input rather than stopping on eGFR alone
  • SGLT2 inhibitor:
    • Dapagliflozin 10 mg once daily (DAPA-HF[13]; NICE TA679[5])
    • Empagliflozin 10 mg once daily (EMPEROR-Reduced[14]; NICE TA773[6])
    • Fixed doses, no uptitration required; initiation thresholds are eGFR ≥20 ml/min/1.73m² (empagliflozin) or ≥25 (dapagliflozin), and established treatment can generally be continued if eGFR later falls below these (see product labels); interrupt temporarily in acute illness
    • Interrupt 3–5 days before planned surgery; advise sick-day rules

3. Device therapy:

  • ICD for primary prevention if LVEF ≤35% after ≥3 months of foundational medical therapy, NYHA II–III, life expectancy >1 year (SCD-HeFT[20], MADIT-II[21]; note DANISH[25] showed no overall mortality benefit of primary-prevention ICD in non-ischaemic cardiomyopathy, so device decisions are individualised, weighing arrhythmic risk markers such as LGE and genotype)
  • CRT-D if LVEF ≤35%, LBBB morphology, QRS ≥130 ms (greatest benefit QRS ≥150 ms) (COMPANION[22], CARE-HF[23], RAFT[24])

4. Advanced heart failure and/or transplant referral:

  • Heart transplantation assessment, refer if NYHA III–IV, peak VO₂ <12–14 ml/kg/min despite foundational medical therapy
  • LVAD as bridge to transplant or destination therapy

5. If the ejection fraction improves (HFimpEF):

  • Definition. Heart failure with improved ejection fraction requires all three: antecedent HFrEF, a ≥10-point increase in LVEF, and a new LVEF >40%[27].
  • Remission, not cure. These patients remain susceptible to recurrent left ventricular dysfunction and need continued medical therapy and longitudinal surveillance[27]. A normalised ejection fraction is not a reason to stop treatment.
  • Withdrawal of therapy. TRED-HF randomised 51 patients with recovered DCM to phased withdrawal of heart-failure therapy or continuation. Within 6 months 45.7% of the withdrawal group relapsed, and none of the continuation group did[28].
  • Longer term. At a median 6 years, 33 of the 51 (65%) had relapsed; of the 41 who restarted therapy, 18 (44%) relapsed again, and only 5 remained off treatment and asymptomatic. The authors describe a relapsing–remitting course and conclude that heart-failure therapy at robust doses should be continued[29].
  • Recovery does not neutralise genotype. In LMNA, FLNC, PLN, DSP and RBM20 the arrhythmic risk exceeds what LVEF predicts[1], so an improved ejection fraction is not on its own a reason to revisit an ICD decision or to relax surveillance in a high-risk genotype.

Gene-specific considerations:

  • LMNA: ICD decisions should be guided by the validated LMNA ventricular-tachyarrhythmia risk calculator (Wahbi 2019), which estimates an individual 5-year VTA probability from male sex, NSVT, LVEF (entered as a number, not a threshold), non-missense variant type and AV block (none, first-degree, or higher-degree), rather than a simple count of risk factors; the resulting risk estimate should be combined with phenotype, specific variant, competing risks and shared decision-making, not applied as a fixed universal threshold (ESC 2023[1])
  • FLNC: truncating variants carry a higher arrhythmic risk that may justify ICD consideration at an LVEF above conventional thresholds when additional risk factors are present, this is a risk-modifying consideration rather than a fixed rule for every truncating-variant carrier
  • DES: conduction disease is the commonest first manifestation and usually precedes ventricular dysfunction, so keep a low threshold for ambulatory monitoring and pacing assessment; sustained ventricular arrhythmia and heart-failure events are frequent and male sex is the strongest predictor; ask about proximal or distal weakness and check CK (normal in a third) with neurology referral if myopathy is suspected[30][31][32]
Related Resources

Complications

  • Progressive heart failure: the dominant clinical course, advancing to refractory heart failure, LVAD or transplant[1]
  • Ventricular arrhythmia and sudden cardiac death: can precede severe systolic dysfunction in arrhythmogenic genotypes (LMNA, FLNC, PLN, DSP)[1]
  • Conduction disease and high-grade AV block: especially with LMNA variants, which can demand pacing or ICD before the ejection fraction falls
  • Atrial fibrillation.
  • Intracardiac (LV) thrombus and systemic embolism: in low-flow, severely impaired ventricles
  • Functional mitral regurgitation: from annular dilatation, worsening the heart failure spiral

Risk Stratification

ICD:[1]

  • Class I: after cardiac arrest or a haemodynamically unstable ventricular arrhythmia[3]
  • Class IIa: symptomatic heart failure with LVEF ≤35% despite more than 3 months of optimal medical therapy
  • Class IIa: include the genotype in the SCD risk estimate
  • Class IIa: high-risk genotype with LVEF >35% and additional risk factors (syncope, LGE)
  • Class IIb: high-risk genotype with LVEF >35% and no additional risk factors
  • Class IIb: no high-risk genotype, LVEF >35%, with additional risk factors

High-risk genotypes (annual SCD rate; predictors of SCD):[1]

  • LMNA: ICD decisions should be guided by the validated LMNA ventricular-tachyarrhythmia risk calculator (Wahbi 2019), which computes an individual 5-year VTA probability from male sex, NSVT, LVEF (entered as a number, not a threshold), non-missense variant type and AV block (none, first-degree, or higher-degree), combined with phenotype, competing risks and shared decision-making rather than a simple count of risk factors[1]. Additionally, LMNA variants localising to the IgD domain (C-terminal immunoglobulin-like domain, e.g. p.Arg471His, p.Arg541His) present a distinct apical pseudo-infarct LGE pattern (transmural fibrosis) and independently predict major ventricular arrhythmias (HR 2.39, 95% CI 1.05–5.46; Castrichini et al 2025[10]); these variants may carry higher thromboembolic risk (emerging variant-specific evidence); individualise anticoagulation with MDT input where apical fibrosis/aneurysm, AF, intracardiac thrombus, or severe LV dysfunction are present
  • LMNA with a pacing indication: in carriers who meet conventional criteria for a pacemaker, or who have a prolonged PR interval with LBBB, an ICD with pacing capability should be considered rather than a pacemaker, if survival of at least 1 year is expected (Class IIa)[38]. A pacemaker alone does not reduce the risk of sudden death in LMNA disease[38]
  • FLNC (truncating variants; 5–10%): LGE, LVEF <45%
  • TMEM43 (5–10%): male sex; in women, LVEF <45%, NSVT, LGE or >200 ventricular ectopics on 24-hour Holter
  • PLN (3–5%): PLN p.Arg14del risk calculator; LVEF <45%, LGE, NSVT
  • DSP (3–5%): LGE, LVEF <45%
  • RBM20 (3–5%): LGE, LVEF <45%
CMR Late Gadolinium Enhancement (LGE) and Prognosis in DCM (Halliday et al, JACC Imaging 2018[9])

In 874 DCM patients followed for a median of 4.9 years, 34.3% had nonischemic LGE. Even small LGE amounts predicted substantially higher SCD risk:

  • LGE 0–2.55%: SCD adjusted HR 2.79 (95% CI 1.42–5.49)
  • LGE 2.55–5.10%: SCD adjusted HR 3.86 (95% CI 2.09–7.13)
  • LGE >5.10%: SCD adjusted HR 4.87 (95% CI 2.78–8.53)
  • Septal + free-wall LGE combined = highest SCD risk (the combination outperforms extent or pattern alone)
  • Predictive models using LGE presence and location were superior to models based on LVEF alone

CMR with LGE should be performed in all DCM patients, LGE presence, location (septal vs free-wall), and extent all independently inform ICD decision-making beyond LVEF.

Heart transplant referral considerations:

  • NYHA Class III-IV despite optimal therapy
  • Peak VO2 <12-14 ml/kg/min
  • Recurrent hospitalizations for heart failure
  • Refractory arrhythmias
  • Seattle Heart Failure Model or HFSS can aid prognostication

Pregnancy Management

mWHO class II–III or above: refer to a Pregnancy Heart Team before conception (see Pregnancy).

Pregnancy in DCM - individualized risk assessment (2025 ESC Pregnancy Heart Team approach)

Pregnancy risk in DCM rises with lower LVEF and worse functional class, and a history of peripartum cardiomyopathy carries a recognised risk of recurrence, but there is no single validated LVEF or NYHA cut-off that makes pregnancy universally contraindicated; risk should be assessed individually by a Pregnancy Heart Team using baseline LVEF, functional capacity, NT-proBNP, arrhythmia history and genotype where known. For reference, the mWHO classification used by the ESC pregnancy guideline places severe LV dysfunction (LVEF <30% or NYHA III–IV) and previous peripartum cardiomyopathy with more than mild residual LV impairment in the highest-risk category (mWHO IV); EF 30–45%, or previous PPCM with no more than mild residual impairment, is mWHO III; this frames counselling about very high risk rather than dictating the decision.[1][4]

Medication: ACE inhibitors, ARBs, sacubitril/valsartan, mineralocorticoid receptor antagonists and SGLT2 inhibitors are contraindicated in pregnancy and are stopped before conception, with close monitoring; beta-blockers are continued, with monitoring of fetal growth. Therapeutic-dose LMWH is used for AF at elevated thromboembolic risk, intracardiac thrombus or EF <35%.[4]

Monitoring: surveillance frequency (clinical review, echocardiography, NT-proBNP) should be individualized to the patient's baseline severity and trajectory rather than a fixed universal monthly or fortnightly schedule; the threshold for admission should likewise be set by the treating team based on the individual's trend rather than a fixed absolute LVEF drop.

Delivery: vaginal delivery is recommended in most women; caesarean section is for obstetric indications, severe heart failure (EF <30% and/or NYHA III/IV) or uncontrolled arrhythmias (Class I). Timing, invasive monitoring and any pulmonary-artery catheterisation are decided by the Pregnancy Heart Team on haemodynamic status at the time.[4]

Postpartum: the early postpartum period carries a recognised risk of haemodynamic decompensation from autotransfusion and fluid shifts; the intensity and duration of monitoring should be individualized to the patient's severity rather than a fixed universal CCU/HDU admission for all. Pre-existing DCM can also deteriorate postpartum in a pattern that overlaps with peripartum cardiomyopathy, so a low threshold for reassessment if symptoms worsen is reasonable.

Genetic considerations: where a pathogenic variant is identified (e.g. LMNA, FLNC), this should inform counselling about arrhythmic risk in the patient and transmission risk to offspring, but does not by itself dictate a fixed monitoring or delivery protocol.

Contraception and future pregnancy: discuss the full range of options through non-directive counselling; a prior peripartum cardiomyopathy history carries a recognised recurrence risk with a further pregnancy, and this should be discussed with the decision led by the patient.

Follow-up

Based on ESC 2023 Cardiomyopathy & ESC Heart Failure guidelines[1][2].

Advanced / complicated = LVEF <35%, NYHA III–IV symptoms, recurrent arrhythmia, high-risk genotype (LMNA, FLNC, RBM20, PLN, DSP), or a device in situ.

Genotype-positive / phenotype-negative (G+/P−) = a confirmed pathogenic-variant carrier with no overt disease expression yet.

Genotype+ / Phenotype−Uncomplicated / StableAdvanced / Complicated
FrequencyEvery 2–3 yrs (annual if LMNA/FLNC)Every 1–2 yearsEvery 3–6 months
Clinical reviewSymptoms, BPSymptoms, NYHA, BP, weightAs above + fluid status, device check
ECGEach screening visitAnnual 12-leadEach visit
EchocardiographyEach screening visit (early dysfunction)Every 1–2 years (LVEF, dimensions)6-monthly
Holter / ambulatoryIf high-risk genotype (LMNA/FLNC)Every 1–2 years (more often if LMNA/FLNC)6-monthly
BloodsNT-proBNP if indicatedAnnual (renal function, NT-proBNP)Each visit
CMRConsider (early fibrosis)Baseline; repeat if phenotype changesAs clinically indicated
Family screening–Cascade ECG + echo (genotype-guided)–

Disclaimer: This table is general guidance based on published guidelines and does not replace clinical judgement. The responsible clinician is accountable for determining the appropriate, individualised follow-up plan for each patient.

Key Points

  • TTN truncating variants require phenotype- and variant-level interpretation; not all TTN variants are pathogenic
  • Address reversible causes: thyroid, nutritional deficiency, toxins
  • Screen first-degree relatives (clinical + genetic if variant identified)
  • Ensure optimal medical therapy before considering devices (wait 3-6 months on foundational medical therapy)[1]
  • LMNA carriers - do NOT wait for LVEF ≤35% to consider ICD[1]
  • Anticoagulation for AF/flutter, LV thrombus, prior systemic embolism or another standard indication; not routine for low LVEF alone in sinus rhythm[1]
  • Excess alcohol should be avoided; complete abstinence is recommended where alcohol-related cardiomyopathy is suspected
  • Preconception counselling essential - LVEF <30% or NYHA III–IV places pregnancy in the very-high-risk mWHO IV category; counsel accordingly, with the decision made by the patient after Pregnancy Heart Team review

References & Review Date

Last reviewed: October 2026

Key studies in DCM · the landmark studies, drawn to scale with the other inherited cardiac conditions.

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