Cardiomyopathy in Children: Diagnosis and Management

Phenotypes, cut-offs, graded management, family screening and LGE patterns; adult values labelled

Age

Phenotype

HCM: hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM)

Diagnosis

Children Wall thickness z >2 (ESC 2023 §7.1.1.1). AHA/ACC 2024 §2.3 proposes z >2.5 if asymptomatic with no family history and z >2 with a definite family history or positive genetic test (traditionally z ≥2).
Adult ≥15 mm; 13–14 mm with supporting findings; ≥13 mm in an adult first-degree relative (ESC).
Obstruction: peak gradient ≥30 mm Hg; invasive treatment usually at ≥50 mm Hg (ESC §7.1.4.1; AHA/ACC §3.1). Systolic dysfunction: EF <50% (AHA/ACC 2024 Table 8, §8.3).

Work-up and red flags

Infants Exclude maternal diabetes, twin–twin transfusion and corticosteroids; with syndromic or metabolic red flags, look for RASopathy, Pompe disease, fatty acid oxidation or mitochondrial disease (ESC §6.9.1).
Echo with provocation, ECG, 24–48 h ambulatory ECG, CMR, pedigree and genetic testing. Echo Z-Scores

Management

AHA/ACC 2024 rows naming children, and key rows for all ages
Class	Recommendation	LOE
1	Children Exercise testing regardless of symptoms	B-NR
1	Children Sudden death risk at the first visit and every 1–2 years	B-NR
1	Children CMR for LGE extent when risk is borderline or the ICD decision uncertain	C-LD
2a	Children Under 16 years: 5-year risk estimate for ICD decisions (HCM Risk-Kids calculator)	B-NR
2a	Children ICD reasonable with ≥1 major risk factor	B-NR
2b	Children Extensive LGE and systolic dysfunction may be weighed in ICD decisions	B-NR
1	Children Recurrent ventricular arrhythmia despite beta-blockers: antiarrhythmic drugs (e.g. amiodarone, mexiletine, sotalol)	C-LD
3: Harm	Verapamil with severe rest dyspnea, hypotension or very high resting gradients (e.g. >100 mm Hg), and in all children <6 weeks	C-LD
2b	Earlier myectomy (NYHA II) at a comprehensive center, e.g. children and young adults with resting gradients >100 mm Hg	B-NR
1	Persistent obstructive symptoms despite beta-blockers or nondihydropyridine calcium channel blockers: add a myosin inhibitor (Adult only), or disopyramide with an AV-nodal blocker, or septal reduction at an experienced center	B-R
1	EF <50%: guideline-directed therapy for HF with reduced EF	C-LD

ESC 2023 Recommendation Tables 16, 19, 20, 23, 31
Class	Recommendation	LOE
I	Echo at rest, with Valsalva and standing, at the first visit	B
I	Symptomatic with a gradient <50 mm Hg: exercise echo	B
I	Symptomatic LVOTO: non-vasodilating beta-blocker, maximum tolerated dose	B
I	Beta-blocker not tolerated: verapamil or diltiazem	B
I	Add disopyramide (reduce the dose if QTc exceeds 500 ms)	B
IIa	Adult Add mavacamten, with echo surveillance of LVEF	A
I	Septal reduction: gradient ≥50 mm Hg, NYHA or Ross III–IV despite maximum therapy	B
I	Children Septal myectomy rather than alcohol septal ablation	C
I	Children Under 16 years: validated pediatric model (e.g. HCM Risk-Kids) for 5-year risk	B
I	Aged 16 years and over: HCM Risk-SCD	B
IIa	ICD should be considered at a 5-year risk ≥6%	B
IIb	ICD may be considered at a 5-year risk of ≥4% to <6%	B
IIb	Risk <4%: extensive LGE (≥15%) may be considered in shared ICD decision-making	B
IIb	Risk <4%: LVEF <50% may be considered in shared ICD decision-making	B
IIb	Low-risk mild HCM, no LVOTO or exercise-induced complex arrhythmia: high-intensity or competitive sport	B
III	High-intensity sport at high risk, or with LVOTO and exercise-induced complex arrhythmia	C

Family screening and follow-up

ECG and echo in asymptomatic first-degree relatives (AHA/ACC 2024 Table 7)
Relative	Start and repeat
Children	Genotype-positive or early-onset families: start at the family diagnosis; every 1–2 y
Children	All other children: any time after the family diagnosis, no later than puberty; every 2–3 y
Adult	At the family diagnosis; every 3–5 y

Follow-up (AHA/ACC 2024 §6.2–6.9)
Class	Recommendation	LOE
1	Genotype-positive, phenotype-negative: ECG and imaging every 1–2 years (children, adolescents), 3–5 years (adults)	B-NR
3: No Benefit	Ongoing screening of genotype-negative relatives (unless the variant is downgraded)	B-NR
1	No change in clinical status: echo every 1–2 years	B-NR children, C-LD adults
1	12-lead ECG at the first evaluation and every 1–2 years	B-NR
1	24–48 h ambulatory ECG at the first evaluation and every 1–2 years	B-NR
2b	Repeat contrast CMR every 3–5 years for sudden death risk	C-EO
2a	Genotype-positive, phenotype-negative: competitive sport of any intensity	B-NR

Sudden Cardiac Death Risk (HCM) · ICD indications, HCM

DCM: dilated cardiomyopathy

Dilated cardiomyopathy (DCM)

Diagnosis (ESC 2023 §3.2.2, §7.2.1)

LV end-diastolic dimension or volume z >2 with LVEF <50% or regional systolic dysfunction.
Children AHA 2019: LVEDD and LVESD z >2 with reduced systolic function (normal EF >55%, shortening fraction 28–38%). ISHLT 2025 Table 3: HFrEF EF ≤40%, HFmrEF 41–49%, HFpEF ≥50% with raised filling pressures.
Adult LVEDD >58 mm (male), >52 mm (female); LVEDV index ≥75 mL/m² (male), ≥62 mL/m² (female) by echo.
In a relative, isolated LV dilatation with preserved systolic function (including in a carrier of the familial variant) is enough for DCM (§7.2.1.2).

Work-up and red flags

Infants Rule out hypocalcaemic vitamin D–dependent rickets, coarctation and ALCAPA (requiring immediate surgical management), and myocarditis (§6.9.1).
First-level labs, including vitamin D in children (Table 8).
CMR (LGE pattern: see the finder) and genetic testing for all; “age should not be a limiting factor” (§7.2.2.1).

Heart failure in children

ISHLT 2025 pediatric heart failure guideline
Class	Recommendation	LOE
I	Look for tachycardia-induced cardiomyopathy in every new DCM	B
I	Panel genetic testing for any cardiomyopathy subtype	C
I	Variant-specific testing of first-degree relatives once a (likely) pathogenic variant is found	C
IIa	Metabolic tests	C
I	BNP or NT-proBNP to follow known heart failure	B
I	Diuretics to euvolemia with fluid retention	C
I	ACE inhibitor routinely in LV systolic dysfunction unless contraindicated	B
IIa	ARB if an ACE inhibitor is not tolerated	C
IIa	ARNI instead of an ACE inhibitor or ARB in symptomatic systemic LV systolic dysfunction	B
IIa	Aldosterone antagonist in symptomatic systemic LV dysfunction	C
IIa	Beta-blocker in systemic LV systolic dysfunction	C
IIa	Ivabradine in stable heart failure when heart rate reduction is wanted	B
IIb	Digoxin for symptoms, at lower serum levels (e.g. 0.5–0.9 ng/ml)	C
IIb	SGLT2 inhibitor in symptomatic HFrEF (not systematically studied in children)	C
I	Anticoagulation for intracardiac thrombus	B
IIa	Anticoagulation with prior thrombus or thromboembolism and EF <25% (FS <15%)	C
IIa	Severe acute heart failure: transfer to a center with pediatric HF, transplant and mechanical support	C

AHA 2007 transplant indications (ISHLT 2025 refers to it)
Class	Indication for heart transplant	LOE
I	Stage D heart failure with systemic ventricular dysfunction	B
I	Stage C with severe activity limitation; if measurable, peak VO₂ <50% predicted for age and sex	C
I	Stage C with systemic ventricular dysfunction and significant growth failure from heart disease	B
I	Stage C with near sudden death and/or life-threatening arrhythmia not treatable with drugs or an ICD	C

Management

ESC 2023 Recommendation Tables 9, 10, 24, 31; §6.10.2.1
Class	Recommendation	LOE
IIb	Early DCM or NDLVC: first-line heart failure drugs (ACE inhibitor, ARB, beta-blocker, MRA) may be considered to prevent progression (class in the text)	C
I	Transplant for eligible patients with advanced heart failure (NYHA III–IV) or intractable ventricular arrhythmia	C
IIa	Mechanical circulatory support as a bridge in transplant-eligible advanced heart failure	B
IIa	Mechanical circulatory support when not transplant-eligible, without severe RV dysfunction	B
I	ICD after cardiac arrest or a haemodynamically unstable ventricular arrhythmia	B
IIa	ICD with symptomatic heart failure and LVEF ≤35% despite >3 months of optimal medical therapy	A
IIa	Use the genotype in estimating sudden death risk	B
IIa	High-risk genotype, LVEF >35% and additional risk factors: ICD should be considered	C
IIb	High-risk genotype, LVEF >35%, no additional risk factors: ICD may be considered	C
IIb	No high-risk genotype, LVEF >35% with additional risk factors: ICD may be considered	C
IIa	Exercise: genotype-positive, phenotype-negative (not LMNA, TMEM43): moderate and high intensity should be considered	C
IIb	Exercise: high intensity if asymptomatic, treated, LVEF ≥50%, no exercise-induced complex arrhythmia	C
IIb	Exercise: moderate intensity if asymptomatic, treated, LVEF 40–49%, no exercise-induced complex arrhythmia	C
III	Exercise: no high intensity if symptomatic, LVEF ≤40%, exercise-induced complex arrhythmia or LMNA/TMEM43 variant	C

Family screening

Unaffected first-degree relatives, ECG and echo (HFSA 2018 Table 2)
Age	DCM: repeat
0–5 y	Every year if a first-degree relative has DCM
6–12 y	Every 1–2 years if a first-degree relative has DCM
13–19 y	Every 1–3 years
20–50 y	Every 2–3 years; over 50, every 5 years

Pediatric Heart Failure (NT-proBNP by age) Experimental · ICD indications, dilated CM · Myocarditis · Echo Z-Scores

NDLVC: non-dilated left ventricular cardiomyopathy

Non-dilated left ventricular cardiomyopathy (NDLVC)

Diagnosis (ESC 2023 §3.2.3, §7.3.1)

Non-ischaemic LV scar or fatty replacement (LGE on CMR) without LV dilatation, or isolated global LV hypokinesia without scar; global dysfunction LVEF <50%.
Relatives: LV dysfunction, repolarization changes, low QRS voltage, >500 ventricular extrasystoles per 24 h or NSVT are highly suggestive (§7.3.1.2).

Work-up and red flags

CMR with LGE is the key test; genetic testing in every patient (§7.3.2).
Children Very rare in infants (mostly recessive forms with skin signs: Naxos disease, Carvajal syndrome); may present like acute myocarditis (§6.9.1).

Management

ESC 2023 Recommendation Tables 25, 26
Class	Recommendation	LOE
I	Ambulatory ECG every year, or with a change in clinical status	C
I	ICD after cardiac arrest or a haemodynamically unstable ventricular arrhythmia	C
IIa	ICD with heart failure symptoms and LVEF ≤35% despite >3 months of optimal medical therapy	A
IIa	Use the genotype in estimating sudden death risk	C
IIa	High-risk genotype, LVEF >35% and additional risk factors: ICD should be considered	C
IIb	High-risk genotype, LVEF >35%, no additional risk factors: ICD may be considered	C
IIb	No high-risk genotype, LVEF >35% with additional risk factors: ICD may be considered	C

ICD indications, dilated CM · ACM / ARVC

ARVC: arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Diagnosis

Predominantly RV dilatation and/or dysfunction with histological and/or ECG involvement: the 2010 Task Force criteria (ESC 2023 §3.2.4, §7.4.1.3); LV-predominant disease is NDLVC.
Children Pediatric criteria “remain to be established” (HRS 2019); 2010 reference values may not apply under 12 years; T-wave criteria only over 14 years (Marcus 2010).

Revised Task Force criteria, condensed (Marcus 2010 Table 1; derived in probands **≥12 y**; reference values may not apply under 12 y)
Category	Major	Minor
Echo (with regional RV akinesia, dyskinesia or aneurysm)	PLAX RVOT ≥32 mm (≥19 mm/m²), PSAX RVOT ≥36 mm (≥21 mm/m²) or FAC ≤33%	Akinesia or dyskinesia with PLAX ≥29 to <32 mm (≥16 to <19), PSAX ≥32 to <36 mm (≥18 to <21) or FAC >33 to ≤40%
CMR (with regional akinesia, dyskinesia or dyssynchrony)	RVEDV/BSA ≥110 mL/m² (male), ≥100 (female) or RVEF ≤40%	RVEDV/BSA ≥100 to <110 (male), ≥90 to <100 (female) or RVEF >40 to ≤45%
RV angiography	Regional RV akinesia, dyskinesia or aneurysm
Biopsy	Residual myocytes <60% (<50% estimated) with fibrous replacement of the RV free wall	60–75% (50–65% estimated)
Repolarization	T-wave inversion V1–V3 or beyond, age >14 y, no complete RBBB	V1–V2 at >14 y without complete RBBB, or V4–V6; V1–V4 at >14 y with complete RBBB
Depolarization	Epsilon wave V1–V3	SAECG late potentials (QRS <110 ms): filtered QRS ≥114 ms, low-amplitude signal duration ≥38 ms or RMS voltage of terminal 40 ms ≤20 µV; terminal activation duration ≥55 ms in V1–V3 without complete RBBB
Arrhythmia	Nonsustained or sustained VT of LBBB morphology with superior axis	Nonsustained or sustained VT of RV outflow configuration (inferior axis) or unknown axis; >500 ventricular extrasystoles per 24 h
Family	First-degree relative meeting criteria or proven at autopsy or surgery; pathogenic variant in the patient	First-degree relative history not assessable; premature sudden death (<35 y) from suspected ARVC in a first-degree relative; second-degree relative confirmed

Red flags

Palpitations, syncope or aborted sudden death in adolescents and young adults; frequent ectopy or VT of LBBB morphology; T-wave inversion V1–V3; RV dilatation on 2D echo (ESC 2023 §7.4.1.1).
Children About 15% present in childhood, with more severe disease and higher sudden death risk; may mimic myocarditis (ESC §6.9.1, §7.4.1.1).

Management and family screening

Relatives: every 1–2 y with ECG, echo and Holter (ESC 2023 §7.4.2); every 1–3 y from 10–12 y (HRS 2019 §3.9.1.3).

ESC 2023 Recommendation Tables 27, 28, 29, 31
Class	Recommendation	LOE
I	Ambulatory ECG every year	C
I	Beta-blocker with ventricular ectopy, NSVT or VT	C
IIa	Amiodarone if beta-blockers fail to control symptoms	C
IIa	Flecainide added to a beta-blocker when one drug fails	C
IIa	Ablation (3D mapping, epicardial access) for incessant VT or frequent ICD therapy despite beta-blockers	C
I	ICD after cardiac arrest or a haemodynamically unstable ventricular arrhythmia	A
IIa	ICD after haemodynamically tolerated VT	B
IIa	Use high-risk features in the individual ICD decision	B
IIa	Use the updated 2019 ARVC risk calculator in the ICD decision	B
III	Moderate or high-intensity exercise, including competitive sport, with ARVC	B
IIb	Genotype-positive, phenotype-negative: avoiding high-intensity exercise may be considered	C

HRS 2019 §3.8–3.12 (adult and pediatric patients)
Class	Recommendation	LOE
I	First-degree relatives: evaluation every 1–3 years from 10–12 years (earlier with early onset in the family or a known pathogenic variant)	B-NR
I	That evaluation: 12-lead ECG, ambulatory ECG and cardiac imaging	B-NR
IIb	Asymptomatic relatives without the familial pathogenic variant and with a normal evaluation may be released from screening	C-EO
I	Genetic testing of established genes in patients (and decedents) with ACM	C-EO
I	Adolescents and adults, gene-positive and phenotype-negative: counsel that competitive or frequent high-intensity endurance exercise raises the risk of disease and arrhythmia	B-NR
III: Harm	Competitive or frequent high-intensity endurance exercise with ARVC	B-NR
IIa	Beta-blocker in ACM without an ICD	C-EO

ICD indications, ACM / ARVC (PACES 2021)

RCM: restrictive cardiomyopathy

Restrictive cardiomyopathy (RCM)

Diagnosis (ESC 2023 §3.2.5, §7.5)

Restrictive LV and/or RV physiology with normal or reduced diastolic and systolic volumes and normal wall thickness; usually biatrial enlargement.

Red flags and prognosis

Children More than 50% at risk of death or transplant soon after diagnosis; PVR raised in up to 40%, can rise quickly (ESC §7.5.4).
Children AHA 2019: pathogenic or likely pathogenic variants in 50% (PCMR exome study); transplant by 5 years 58% (pure RCM) vs 30% (RCM-HCM). Infants: isolated RCM is rare, mixed RCM/HCM more common (ESC §6.9.1).
Children AHA 2023: follow PVR serially; any significant finding should prompt transplant evaluation.

Management

ESC 2023 Recommendation Table 30
Class	Recommendation	LOE
I	Multimodality imaging to separate RCM from HCM or DCM with restrictive physiology	C
I	Baseline cardiac and non-cardiac tests for neuromuscular or syndromic disease	C
I	Children Catheterization for pulmonary artery pressure and PVR at diagnosis and every 6–12 months	B
I	ICD after cardiac arrest or a haemodynamically unstable ventricular arrhythmia	C
IIa	Endomyocardial biopsy to exclude iron overload, storage disorders, mitochondrial cytopathies, amyloidosis and granulomatous disease, and to diagnose desmin myofibrillar disease	C
IIb	Children ICD with evidence of myocardial ischaemia and syncope	C

AHA 2007 transplant indications (no newer pediatric transplant-indication statement; ISHLT 2025 has no RCM rows)
Class	Indication for heart transplant	LOE
I	Stage C heart failure in pediatric RCM with reactive pulmonary hypertension	C
I	With another indication, feasible with PVRI >6 Woods units/m² and/or TPG >15 mm Hg if inotropes or pulmonary vasodilators bring PVRI below 6 or TPG below 15	B

Relatives (HFSA 2018 Table 2, RCM): yearly at 0–5 y and every 1–2 y at 6–12 y if a first-degree relative has RCM; every 2–3 y at 13–19; 3 y at 20–50; 5 y over 50.

PVR from catheter data: Cath Hemodynamics

LVNC: left ventricular noncompaction (hypertrabeculation)

Left ventricular noncompaction (LVNC)

What it is: the sources differ

ESC 2023 §3.3.1: not a cardiomyopathy in the general sense but a trait, prefers “hypertrabeculation”.
HRS 2019 §5.5: a genetic “noncompaction cardiomyopathy” within arrhythmogenic cardiomyopathy.
AHA 2019 (children): a phenotype, with the debate (disease or trait) recorded; no numeric criterion.

Red flags and outcome

Infants DCM with LV hypertrabeculation: consider mitochondrial or metabolic disease including Barth syndrome (ESC §6.9.1).
Children Outcome follows function and rhythm, not trabeculation; ECG abnormal in 80–90% (HRS 2019).
Adult Criteria are met by many healthy adults: CMR ratio >2.3 in at least one region in 43% (MESA, adults, mean age 68, as cited by HRS 2019). LGE can be hard to separate from deep recesses (Cummings 2009, adult case).

Published imaging criteria as quoted in HRS 2019 Table 5
Modality	Criterion, as printed
Echo (Chin 1990, n 8)	2 layers, excessively prominent ventricular trabeculations, progressively increased total myocardial wall thickness from mitral valve and toward the apex, CM/(NCM + CM) ≤0.5 at end-diastole (short-axis parasternal and/or apical views)
Echo (Jenni 2001, n 34)	2 layers, intertrabecular recesses by CFD, no co-existing structural abnormality, NC/C layer ≥2
Echo (Stöllberger 2002, n 62)	>3 trabeculations protruding from LV wall apically to papillary muscle. End-diastolic NC/C layer ≥2
CMR (Petersen 2005, n 7)	2 layers. End-diastolic NC/C >2.3
CMR (Thuny 2010, n 16, Adult)	Total LV trabeculated mass without papillary muscles. End-diastolic NC layer volume >20%

Management

HRS 2019 §5.5
Class	Recommendation	LOE
IIb	Echo or CMR noncompaction-to-compaction ratio (NC/C) may be reasonable for the diagnosis	B-NR
IIb	Suspected LVNC with ventricular arrhythmia: CMR or other advanced imaging for diagnosis and risk	B-NR
I	Proband with a disease-causing variant: clinical screening, genetic counselling and testing of first-degree relatives	B-NR
IIa	Pathologic LVNC: genetic counselling and testing	B-NR
I	ICD with ventricular tachyarrhythmia and syncope, or resuscitated sudden death, if survival >1 year is expected	B-NR
IIa	ICD with nonsustained VT and reduced EF	B-NR
I	Anticoagulation with atrial fibrillation or a previous embolic event	B-NR
IIb	Anticoagulation with ventricular dysfunction	B-NR

Diagnosis at a glance

Phenotype	Criteria	Source
HCM Children	LV wall thickness z-score >2	ESC 2023 §7.1.1.1
HCM Children	z >2.5 if asymptomatic with no family history; z >2 with a family history or positive gene test (proposed)	AHA/ACC 2024 §2.3
HCM Adult	≥15 mm; 13–14 mm with family history, gene or ECG support (ESC), in relatives or a positive gene test (AHA/ACC)	ESC 2023; AHA/ACC 2024
DCM	LV end-diastolic dimension or volume z >2 plus LVEF <50% or regional dysfunction	ESC 2023 §7.2.1.1
DCM Children	LVEDD and LVESD z >2 with reduced systolic function (normal EF >55%)	AHA 2019
NDLVC	Non-ischaemic LV scar or fat on CMR without dilatation, or isolated global hypokinesia without scar	ESC 2023 §7.3.1.1
ARVC	2010 Task Force criteria: definite with 2 major, 1 major + 2 minor or 4 minor from different categories; pediatric criteria not established; T-wave criteria only >14 y	ESC 2023 §7.4.1.3; Marcus 2010; HRS 2019
RCM	Restrictive physiology, normal or reduced ventricular volumes, normal wall thickness	ESC 2023 §3.2.5
LVNC	A trait (“hypertrabeculation”), not a cardiomyopathy (ESC 2023); a noncompaction cardiomyopathy within ACM (HRS 2019); a phenotype in children, with the debate recorded (AHA 2019)	ESC 2023 §3.3.1; HRS 2019 §5.5; AHA 2019

Every patient and family (all phenotypes)

ESC 2023 Recommendation Tables 1, 5, 8, 12–14
Class	Recommendation	LOE
I	Contrast CMR at the first evaluation	B
I	Genetic testing in patients who meet the criteria, when it helps diagnosis, prognosis, treatment, reproductive choices or the testing of relatives	B
IIa	Children Cascade genetic testing of at-risk child relatives once a pathogenic or likely pathogenic variant is known	B
I	Adult Cascade genetic testing of at-risk adult relatives once a pathogenic or likely pathogenic variant is known	B
I	Relatives carrying the familial variant: ECG, imaging and long-term follow-up	B
I	No variant found or no testing: first-degree relatives get an initial ECG and imaging (regular long-term review IIa C)	C
I	Stable patients: ECG and echo every 1–2 years, sooner with new symptoms	C
I	Sudden death risk assessment at the first evaluation and every 1–2 years	C
I	Children Planned transition to adult care, with joint clinics, for every adolescent	C

Screening relatives who carry the variant or have familial disease: ECG and echo every 1–3 years from childhood to 60 years, then every 3–5 years (ESC 2023 §6.11, ungraded).

LGE pattern finder (cardiac MRI)

Left ventricle, short axis. Adapted from Cummings 2009, Figure 17. Tap a region or a chip.

Where is the LGE?

A pattern narrows the differential; it does not make the diagnosis. Cummings 2009 (adult cases and one 7-month-old) and Mahrholdt 2005 (adult studies) are reviews; ESC 2023 Figure 7 lists features that “should raise the suspicion”, to be read with genetics and the clinical picture.

Subendocardial LGE in a coronary territory

Subendocardial, in a coronary territory

Source	Differential as listed
Cummings 2009 Fig 17 review Adult	Infarction (subendocardial, vascular). Ischemic LGE tends to be subendocardial or transmural and to follow a coronary territory; over 50% of wall thickness counts as transmural (viability after bypass grafting).
ESC 2023 Rec Table 6, §6.7.4, §6.9.1	CT-based imaging to exclude congenital or acquired coronary disease (IIa C, all ages). Children CT angiography can exclude anomalies such as ALCAPA, which is on the list to rule out in infants with DCM.
Mahrholdt 2005 Fig 13 review Adult	Ischaemic LGE always involves the subendocardium (subendocardial or transmural infarct) in a coronary territory.

Subendocardial LGE not in a coronary territory

Subendocardial, not in a coronary territory

Source	Differential as listed
Cummings 2009 Fig 17 review Adult	Vascular: infarction (listed first): see Subendocardial, coronary territory.
Cummings 2009 Fig 17 review Adult (histiocytoid: infant case)	Non-vascular: amyloid; hypereosinophilic syndrome; histiocytoid cardiomyopathy (infant case); cardiac transplant.
ESC 2023 Fig 7	HCM phenotype: diffuse subendocardial LGE with high native T1: amyloidosis. RCM phenotype: partial LV or RV apical obliteration with endocardial LGE: endomyocardial fibrosis or hypereosinophilia.
Mahrholdt 2005 Fig 13 review Adult	Global endocardial: amyloidosis; systemic sclerosis; after heart transplant.

Mid-wall (mesocardial) LGE

Mid-wall (mesocardial)

Source	Differential as listed
Cummings 2009 Fig 17 review Adult	HCM; DCM; pulmonary hypertension. Limited to the mid-septum: strongly consider HCM and DCM.
ESC 2023 Fig 7, §7.1.1.4, §7.2.1.5	Patchy mid-wall in hypertrophied areas: sarcomeric HCM (LGE in 65%, range 33–84%). Septal mid-wall: *laminopathy (LMNA). Subepicardial and mid-wall at the basal septum, ± inferolateral wall and RV insertion points: sarcoidosis. Subepicardial to mid-wall LV free wall with transmural RV LGE and fat: desmosomal variants* (ARVC).
Mahrholdt 2005 Fig 13 review Adult	Idiopathic DCM; myocarditis; HCM; RV pressure overload (e.g. congenital heart disease, pulmonary hypertension); sarcoidosis; Anderson–Fabry; Chagas.

Subepicardial LGE

Subepicardial

Source	Differential as listed
Cummings 2009 Fig 17 review Adult	Myocarditis (most common); sarcoid. Highly suggestive of myocarditis when confined to this layer, often the lateral wall; a repeat scan at 6–8 weeks can help separate severe myocarditis from infiltrative disease.
ESC 2023 Fig 7, Fig 3, §7.2.1.5	Subepicardial: post-myocarditis. Lateral wall epicardial (text: extensive inferolateral): dystrophinopathy. Ring-like and/or subepicardial: DSP, FLNC, DES variants (Fig 3 adds PLN). Basal septum with mid-wall: sarcoidosis.
Mahrholdt 2005 Fig 13 review Adult	Epicardial: sarcoidosis; myocarditis; Anderson–Fabry; Chagas. Myocarditis LGE sits in the epicardial quartile and may fade after healing.

Acute myocarditis criteria (updated Lake Louise): Myocarditis: Diagnosis and Imaging

Transmural LGE

Transmural

Source	Differential as listed
Cummings 2009 Fig 17 review Adult	Infarction (most common); myocarditis, severe; sarcoid, chronic.
ESC 2023 Fig 7, §7.1.1.4	Apical transmural: Chagas disease. Transmural RV with fat: desmosomal variants (ARVC). Advanced HCM: full-thickness LGE with wall thinning.
Mahrholdt 2005 review Adult	Transmural infarct; sarcoid can be transmural and mimic infarction.

Patchy or nodular LGE

Patchy or nodular

Source	Differential as listed
Cummings 2009 Fig 17 review Adult	Sarcoid; amyloid; myocarditis. Sarcoid is often patchy and nodular (text p 100).
Cummings 2009 text p 94 review	Histiocytoid cardiomyopathy (mainly girls under 2 years): enhancing subendocardial nodules (infant case).
ESC 2023 Fig 7, §7.2.1.5	Patchy mid-wall in hypertrophied areas: sarcomeric HCM. Patchy in DCM or NDLVC: sarcoidosis.
Mahrholdt 2005 review Adult	HCM: patchy, multifocal LGE in the middle third of hypertrophied walls.

LGE at the RV insertion points

RV insertion points

Source	Differential as listed
ESC 2023 §7.1.1.4, Fig 7	HCM: typical at the anterior and posterior RV insertion points, with patchy mid-wall LGE in hypertrophied segments. Sarcoidosis: basal septum, ± inferolateral wall and RV insertion points.
Cummings 2009 review	Not listed as a separate pattern.
Mahrholdt 2005 review Adult	HCM: every patient with LGE had it at the junctions of the septum and RV free wall (21 adults).

Ring-like LGE

Ring-like

Source	Differential as listed
ESC 2023 Fig 7, Fig 3, §7.2.1.5	NDLVC or DCM with ring-like (often subepicardial) LGE: DSP, FLNC (truncating) and DES variants; Fig 3 also shows PLN.
Cummings 2009 review	Not listed.

RV free wall LGE with fat

RV free wall, with fat

Source	Differential as listed
ESC 2023 Fig 7, §7.4.1.5	ARVC: fat and transmural RV LGE, with subepicardial to mid-wall LV free-wall LGE: desmosomal variants. Only contrast CMR shows LV involvement, which the 2010 Task Force criteria underestimate.
Cummings 2009 review	Not covered (LV patterns only).

No LGE

Source	What the source says
ESC 2023 §7.1.1.4, Fig 3, §3.2.3	Does not exclude a cardiomyopathy: LGE may be absent in HCM, particularly in young people and mild disease; TTN, BAG3, LMNA, DMD, RBM20 and myocarditis may show little or no scar; NDLVC includes isolated global LV hypokinesia without scar.
Cummings 2009 review Adult	Takotsubo cardiomyopathy shows no abnormal LGE (adult example); myocarditis LGE often resolves on follow-up.
Mahrholdt 2005 review Adult	A diffusely impaired ventricle without LGE: idiopathic DCM most likely (alcoholic or post-partum cardiomyopathy also possible); mid-wall septal stripes in up to 30% of idiopathic DCM.

Key points

Name the phenotype first (ESC 2023): HCM, DCM, NDLVC, ARVC or RCM, then search for the cause; LVNC is a trait for ESC, a cardiomyopathy for HRS 2019.
Children use z-scores. HCM: wall thickness z >2 (ESC 2023); AHA/ACC 2024 proposes >2.5 if asymptomatic with no family history, >2 with a family history or positive gene test. DCM: LV size z >2 with LVEF <50% or regional dysfunction. No pediatric ARVC criteria.
Every patient: contrast CMR; genetic testing when it helps diagnosis, prognosis, treatment, reproduction or relatives; three- to four-generation pedigree; ECG and echo every 1–2 years; sudden death risk every 1–2 years (HCM under 16: a pediatric model, e.g. HCM Risk-Kids; AHA/ACC 2024 cites two).
HCM relatives (AHA/ACC 2024): genotype-positive or early-onset families from the family diagnosis, every 1–2 years; other children from any time after it and no later than puberty, every 2–3 years.
ARVC relatives: every 1–2 years (ESC 2023) or every 1–3 years from 10–12 years (HRS 2019).
RCM in children: catheter PVR at diagnosis and every 6–12 months (ESC I B).
LGE patterns narrow the differential; they do not make the diagnosis.

Sources and how this page was checked

Full text read

Arbelo E, Protonotarios A, Gimeno JR, et al.; ESC Scientific Document Group. 2023 ESC Guidelines for the management of cardiomyopathies. Eur Heart J 2023;44(37):3503-3626. doi:10.1093/eurheartj/ehad194. Publisher PDF; recommendation tables and figures read from the rendered pages. Classes I, IIa, IIb, III; levels A-C. Written for children and adults; its rows apply to all ages unless the row carries a Children or Adult label.
Correction to: 2023 ESC Guidelines for the management of cardiomyopathies. Eur Heart J 2026;47(38):5557. doi:10.1093/eurheartj/ehag645. Publisher PDF. It corrects two childhood HCM values in Table 4 and the iron-status T2* entry in Table 22; none of these is shown on this page.
Ommen SR, Ho CY, Asif IM, et al. 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR guideline for the management of hypertrophic cardiomyopathy. Circulation 2024;149(23):e1239-e1311. doi:10.1161/CIR.0000000000001250. Publisher PDF; classes and levels checked on the page images. The copy read includes its correction (next item).
Correction to: 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR guideline for the management of hypertrophic cardiomyopathy. Circulation 2024;150(8):e198. doi:10.1161/CIR.0000000000001277. Two adult mavacamten sentences.
Lipshultz SE, Law YM, Asante-Korang A, et al. Cardiomyopathy in children: classification and diagnosis: a scientific statement from the American Heart Association. Circulation 2019;140(1):e9-e68. doi:10.1161/CIR.0000000000000682. Archived publisher copy. Suggestions, no classes.
Irving C, Azeka E, Adorisio R, et al. The International Society for Heart and Lung Transplantation guidelines for the management of pediatric heart failure (update from 2014). J Heart Lung Transplant 2025;44(10):e21-e71. doi:10.1016/j.healun.2025.06.003. Society-hosted PDF (corrected proof); the final issue version (e21-e71) was not read. It replaces the 2014 ISHLT guideline (Kirk 2014, doi:10.1016/j.healun.2014.06.002), read for comparison only.
Bogle C, Colan SD, Miyamoto SD, et al. Treatment strategies for cardiomyopathy in children: a scientific statement from the American Heart Association. Circulation 2023;148(2):174-195. doi:10.1161/CIR.0000000000001151. Archived publisher copy, corrected version. No classes, no doses.
Canter CE, Shaddy RE, Bernstein D, et al. Indications for heart transplantation in pediatric heart disease: a scientific statement from the American Heart Association. Circulation 2007;115(5):658-676. doi:10.1161/CIRCULATIONAHA.106.180449. Archived publisher copy. Classes I-III; levels B-C.
Towbin JA, McKenna WJ, Abrams DJ, et al. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm 2019;16(11):e301-e372. doi:10.1016/j.hrthm.2019.05.007. Publisher PDF. For adult and pediatric patients. Classes I, IIa, IIb, III; levels B-NR, C-LD, C-EO in the rows used.
Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Circulation 2010;121(13):1533-1541. doi:10.1161/CIRCULATIONAHA.108.840827. Read in the simultaneous Eur Heart J publication (next item) and the NIH author manuscript; the Circulation version of record was not read.
Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J 2010;31(7):806-814. doi:10.1093/eurheartj/ehq025. Open access (PMC2848326).
Corrado D, Anastasakis A, Basso C, et al. Proposed diagnostic criteria for arrhythmogenic cardiomyopathy: European Task Force consensus report. Int J Cardiol 2024;395:131447. doi:10.1016/j.ijcard.2023.131447. Open-access article-in-press copy; its supplementary figure on borderline and possible diagnoses was not available.
Corrado D, Perazzolo Marra M, Zorzi A, et al. Diagnosis of arrhythmogenic cardiomyopathy: the Padua criteria. Int J Cardiol 2020;319:106-114. doi:10.1016/j.ijcard.2020.06.005. Open-access copy.
Cummings KW, Bhalla S, Javidan-Nejad C, Bierhals AJ, Gutierrez FR, Woodard PK. A pattern-based approach to assessment of delayed enhancement in nonischemic cardiomyopathy at MR imaging. RadioGraphics 2009;29(1):89-103. doi:10.1148/rg.291085052. Publisher PDF. An education exhibit (review) illustrated with adult cases and one 7-month-old (histiocytoid cardiomyopathy); its Figure 17 is the basis of the redrawn short-axis diagram (our drawing, not the published figure; locations only).
Hershberger RE, Givertz MM, Ho CY, et al. Genetic evaluation of cardiomyopathy: a Heart Failure Society of America practice guideline. J Card Fail 2018;24(5):281-302. doi:10.1016/j.cardfail.2018.03.004. NIH author manuscript (the typeset version was not read); its Table 2 gives the screening intervals.
Hershberger RE, Givertz MM, Ho CY, et al. Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2018;20(9):899-909. doi:10.1038/s41436-018-0039-z. Publisher PDF; the companion ACMG version, without grades.
Wilde AAM, Semsarian C, Márquez MF, et al. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus statement on the state of genetic testing for cardiac diseases. Europace 2022;24(8):1307-1367. doi:10.1093/europace/euac030. Open access (also J Arrhythm 2022;38(4):491-553). Graded with “should do / may do / do not do” symbols, not classes.
Mahrholdt H, Wagner A, Judd RM, Sechtem U, Kim RJ. Delayed enhancement cardiovascular magnetic resonance assessment of non-ischaemic cardiomyopathies. Eur Heart J 2005;26(15):1461-1474. doi:10.1093/eurheartj/ehi258. Archived publisher copy; a review of adult studies (labelled Adult). Its Figure 13 is reprinted from a textbook chapter (Shah 2005, not read).

Abstract only, or as cited

Smedsrud MK, Chivulescu M, Forså MI, et al. Highly malignant disease in childhood-onset arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 2022;43(45):4694-4703. doi:10.1093/eurheartj/ehac485. Abstract only.
Values marked “as cited by HRS 2019” (Brescia 2013 pediatric LVNC outcomes; the MESA trabeculation figure; the LVNC imaging criteria of Chin 1990, Jenni 2001, Stöllberger 2002, Petersen 2005 and Thuny 2010 in its Table 5) are taken from HRS 2019; the original studies were not read.

How it was checked

ESC 2023 content on this page has been checked against ESC’s 2026 correction to the guideline (doi:10.1093/eurheartj/ehag645).
Cut-offs, classes and levels are copied from the sources (October 2026); wording is condensed. Phenotype names follow ESC 2023 (HCM, DCM, NDLVC, ARVC, RCM; “hypertrabeculation”); each table keeps its own source’s class labels (ESC I-III with A-C; AHA/ACC 1, 2a, 2b, 3: No Benefit, 3: Harm with B-R, B-NR, C-LD, C-EO; HRS, ISHLT and AHA 2007 I-III). Rows limited to adults are labelled Adult. Drug doses are not reproduced.
Convention: the newest society guidelines lead (ESC 2023 for phenotypes and all-ages rows, AHA/ACC 2024 for HCM, ISHLT 2025 for pediatric heart failure); ESC 2023 keeps the 2010 Task Force criteria for ARVC, so the 2020 and 2024 proposals are shown as proposals.
Differences between sources, as printed: pediatric HCM thresholds (ESC z >2; AHA/ACC 2024 z ≥2 traditionally, proposing >2.5 or >2; AHA 2019 z equivalents of the adult criteria, 6-7 and 4-6; AHA 2023 gives 5 and 3-4); LVNC as a trait (ESC 2023) or a cardiomyopathy (HRS 2019; AHA 2019 records the debate); ARVC relative screening every 1-2 years (ESC 2023) or every 1-3 years from 10-12 years (HRS 2019), with Smedsrud 2022 abstract arguing for earlier screening; DCM in children (ESC 2023 LV size z >2 with LVEF <50% or regional dysfunction; AHA 2019 LVEDD and LVESD z >2 with reduced function, normal EF >55%; ISHLT 2025 EF classes ≤40, 41-49, ≥50%); cascade testing of children (ESC 2023 IIa B at any age; EHRA/HRS/APHRS/LAHRS 2022 “should do” from 10-12 years, “may do” earlier; HRS 2019 usually deferred until features are likely, no class); aldosterone antagonists in pediatric heart failure (ISHLT 2014 Class I, ISHLT 2025 IIa C).
Inside single sources, as printed: ESC 2023 Figure 16 gives extensive LGE as >15%, Recommendation Table 23 as ≥15%; Figure 17 gives LVEF <35%, Recommendation Table 24 ≤35%; Recommendation Table 31 places LVEF 40% in both the 40-49% and ≤40% bands; Recommendation Table 29 says arrhythmic syncope, Figure 18 cardiac syncope. AHA/ACC 2024 Figure 1 refers to Table 6 for screening intervals that are in Table 7. The Marcus 2010 author manuscript prints the SAECG voltage criterion as ≥20 µV; the Eur Heart J version and HRS 2019 Figure 6 print ≤20 µV.
The LV short-axis diagram is redrawn from Cummings 2009 Figure 17 and shows only its five locations; the publisher’s figure is not reproduced. ESC 2023 Figure 7 entries are restated as text.

Not covered on this page

Drug doses; device programming and detailed ICD indications (see ICD Indications in Children); myocarditis criteria (see Myocarditis); amyloidosis, Anderson-Fabry disease and other syndromic or metabolic cardiomyopathies in detail; pregnancy; acute decompensated heart failure management; physical activity advice beyond the ESC 2023, AHA/ACC 2024 and HRS 2019 rows.

Hypertrophic cardiomyopathy (HCM)

Diagnosis

Work-up and red flags

Management

Family screening and follow-up

Dilated cardiomyopathy (DCM)

Diagnosis (ESC 2023 §3.2.2, §7.2.1)

Work-up and red flags

Heart failure in children

Management

Family screening

Non-dilated left ventricular cardiomyopathy (NDLVC)

Diagnosis (ESC 2023 §3.2.3, §7.3.1)

Work-up and red flags

Management

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Diagnosis

Red flags

Management and family screening

Restrictive cardiomyopathy (RCM)

Diagnosis (ESC 2023 §3.2.5, §7.5)

Red flags and prognosis

Management

Left ventricular noncompaction (LVNC)

What it is: the sources differ

Red flags and outcome

Management

Diagnosis at a glance

Every patient and family (all phenotypes)

LGE pattern finder (cardiac MRI)

Subendocardial, in a coronary territory

Subendocardial, not in a coronary territory

Mid-wall (mesocardial)

Subepicardial

Transmural

Patchy or nodular

RV insertion points

Ring-like

RV free wall, with fat

No LGE

Key points

Related on HeartCalc

Full text read

Abstract only, or as cited

How it was checked

Not covered on this page