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Cardiomyopathies are diseases of the heart muscle itself, which can become enlarged, thickened or stiff and pump less effectively. They may be inherited or caused by other conditions, and can lead to breathlessness, tiredness, palpitations or swelling — though some people have no symptoms. Diagnosis uses scans and heart tracings, and because some types run in families, relatives may be screened. Treatment includes medicines, devices, lifestyle measures and carefully guided exercise. This page explains the cardiomyopathies and how they are managed.
The non-ischaemic cardiomyopathies are a heterogeneous group of primary heart muscle diseases distinct from coronary, valvular, hypertensive, and congenital heart disease. Each has specific genetic, imaging, and management considerations, and several have particular implications for exercise prescription, family screening, and shared decision-making about implantable cardiac devices.
Definition and classification
Cardiomyopathies are classified phenotypically as dilated (DCM), hypertrophic (HCM), restrictive (RCM), arrhythmogenic right ventricular (ARVC) or arrhythmogenic left ventricular cardiomyopathy (ALVC), and unclassified (including non-compaction and stress cardiomyopathy / Takotsubo). The 2023 ESC cardiomyopathy guideline emphasises an integrated genetic-imaging-clinical framework rather than purely morphological classification.
Pathophysiology
DCM: LV dilatation with systolic dysfunction, with diverse aetiologies including familial (titin truncating variants, lamin A/C, others), myocarditis, peripartum, alcohol-related, chemotherapy-induced, and idiopathic.
HCM: LV hypertrophy not explained by loading conditions, classically with asymmetric septal thickening, often with outflow tract obstruction. Sarcomere gene mutations (MYH7, MYBPC3 most common) underlie a majority.
ARVC/ALVC: fibrofatty replacement of myocardium, predominantly right ventricle (ARVC) or left ventricle (ALVC), with ventricular arrhythmia risk; desmosomal gene mutations underlie most cases.
RCM: impaired ventricular filling with preserved or near-preserved systolic function, from infiltrative (amyloid, sarcoid), storage (Fabry, haemochromatosis), endomyocardial, or idiopathic causes.
Co-morbidities
Heart failure, atrial and ventricular arrhythmias, systemic thromboembolism, sudden cardiac death risk, and (in inherited cardiomyopathies) the psychosocial implications of a genetic diagnosis affecting family members.
Prevalence
HCM: approximately 1 in 500 of the general population. DCM: approximately 1 in 250–500. ARVC: approximately 1 in 1000–5000, with higher prevalence in some geographic populations. Cardiac amyloidosis (predominantly transthyretin amyloid cardiomyopathy in older patients) is now recognised as substantially more common than previously appreciated.
Causes
Genetic: familial in approximately 30–50% of DCM and the majority of HCM, ARVC/ALVC; cascade family screening is recommended once a proband is identified.
Acquired: myocarditis (viral, autoimmune, post-vaccination, immune checkpoint inhibitor-related), peripartum, toxin-related (alcohol, anthracyclines, trastuzumab, cocaine, methamphetamine), nutritional (selenium, thiamine), endocrine (thyroid, acromegaly, phaeochromocytoma), and infiltrative.
Symptoms
Variable: many patients are asymptomatic at diagnosis (identified through family screening or incidental finding). Symptomatic presentations include heart failure (dyspnoea, fatigue, oedema), arrhythmias (palpitations, syncope), chest pain, and sudden cardiac arrest.
Diagnosis
Why diagnosis matters
Accurate phenotypic and genetic diagnosis enables targeted disease-specific therapy (e.g. mavacamten in obstructive HCM, tafamidis in transthyretin amyloid, enzyme replacement in Fabry), individualised arrhythmic risk stratification, evidence-based decisions about implantable defibrillators, and family cascade screening.1,2
Imaging
Echocardiography is the principal screening modality. Cardiac MRI is central to phenotype definition, with late gadolinium enhancement and T1/T2 mapping providing tissue characterisation that distinguishes ischaemic from non-ischaemic, identifies infiltrative disease, and quantifies fibrosis. Cardiac CT and nuclear imaging (pyrophosphate scan for transthyretin amyloid) have specific roles.
Genetic testing and family screening
Genetic testing is recommended for most patients with HCM, DCM with features suggesting a familial cause, ARVC/ALVC, and unexplained cardiomyopathy with red flags. Cascade screening of first-degree relatives is offered when a pathogenic variant is identified. Genetic counselling is integral to the process and is available through Australian cardiac genetics services.
Risk stratification
HCM sudden cardiac death risk stratification uses validated calculators (HCM Risk-SCD, HCM Risk-Kids). DCM and ARVC have their own emerging multi-parametric risk tools incorporating arrhythmic burden, LV function, fibrosis on CMR, and genetic variant.
Management
Treatment goals
Symptom relief, prevention of sudden cardiac death, prevention of heart failure progression, management of arrhythmia and thromboembolism, and (in inherited cardiomyopathies) identification and surveillance of at-risk family members.
Phenotype-specific therapy
HCM with LVOT obstruction: beta-blockers, non-dihydropyridine CCBs, disopyramide; mavacamten (cardiac myosin inhibitor) is now PBS-listed for symptomatic obstructive HCM; septal reduction therapy (myectomy or alcohol septal ablation) for refractory symptoms.3
Transthyretin amyloid cardiomyopathy: tafamidis is established disease-modifying therapy; newer agents (acoramidis, vutrisiran, patisiran) expand the treatment landscape.
DCM: standard heart failure therapy with the four-pillar approach (ARNI/ACEi/ARB, beta-blocker, MRA, SGLT2i); withdrawal of toxins; treatment of myocarditis if identified.
Implantable cardiac devices
Implantable cardioverter-defibrillator (ICD) is recommended for primary prevention in selected patients based on phenotype-specific risk scores, and for secondary prevention following sustained ventricular arrhythmia or aborted sudden death. Cardiac resynchronisation therapy (CRT) is indicated in selected patients with HFrEF, LBBB, and QRS ≥ 130 ms.
Heart transplantation and mechanical support
For advanced disease refractory to medical therapy, heart transplantation and durable mechanical circulatory support (LVAD) are considered through national specialist services. Australian transplant outcomes are excellent for selected patients.4
Exercise prescription — phenotype-specific
Exercise recommendations vary by phenotype and are an active area of evolving guidance. The traditional blanket avoidance of high-intensity exercise in inherited cardiomyopathies has been refined by recent shared-decision frameworks (2020 ESC sports cardiology guideline, 2024 update). Most patients can and should engage in moderate-intensity exercise; high-intensity and competitive sport require specialist multidisciplinary review.5,6,7,8
ARVC remains the cardiomyopathy with the strongest evidence for exercise-induced disease progression; structured prescription with avoidance of high-intensity endurance training is generally advised.
Identifying acute deterioration
New syncope, sustained palpitations with haemodynamic compromise, chest pain, or rapid decompensation of heart failure warrant emergency presentation. Patients and families should be educated in basic life support and access to community AEDs where appropriate.
Medications
Phenotype-specific agents
Mavacamten for obstructive HCM; tafamidis (and emerging agents acoramidis, vutrisiran) for transthyretin amyloid; enzyme replacement therapy or chaperone therapy (migalastat) for Fabry disease; venglustat in selected lysosomal storage disorders.
Heart failure therapy
For DCM and other cardiomyopathies with reduced EF, full guideline-directed therapy (ARNI/ACEi/ARB, beta-blocker, MRA, SGLT2i) at target doses, with adjustment for haemodynamic tolerance.
Antiarrhythmic and anticoagulant therapy
Beta-blockers are a mainstay across most cardiomyopathies. Class III antiarrhythmics (amiodarone, sotalol) are used for ventricular arrhythmia management. Anticoagulation for concurrent AF or LV thrombus follows standard principles.
Medications to avoid
In obstructive HCM, avoid agents that reduce preload or afterload acutely (high-dose nitrates, ACEi/ARB in some contexts, dihydropyridine CCBs alone). In amyloid cardiomyopathy, beta-blockers and ACEi/ARB are often poorly tolerated and may need to be withheld or used at low doses.
Multi-system manifestations
Family implications
Inherited cardiomyopathy diagnosis carries significant implications for first-degree relatives — including children — who require cascade screening, genetic counselling, and (where indicated) longitudinal cardiac surveillance.
Systemic features of specific cardiomyopathies
Amyloidosis: carpal tunnel syndrome (often years before cardiac diagnosis), spinal stenosis, autonomic neuropathy, GI symptoms. Fabry: angiokeratoma, neuropathic pain, renal involvement, hearing loss. Sarcoidosis: pulmonary, dermatological, ocular, neurological involvement.
Arrhythmia burden
Atrial arrhythmias are common across cardiomyopathies and often poorly tolerated. Ventricular arrhythmias are the major source of mortality in HCM, ARVC/ALVC, and selected DCM populations.9,10
Living with cardiomyopathy
Exercise and sport
Engagement in exercise is encouraged for the great majority of patients, with phenotype-specific advice. Shared decision-making about competitive sport in inherited cardiomyopathy is now standard rather than blanket restriction, informed by patient values, risk profile, and access to emergency response.11
Pregnancy
Pregnancy risk varies by phenotype and severity. Peripartum cardiomyopathy carries specific recurrence risk in subsequent pregnancies. Pre-conception counselling through specialist cardio-obstetric services is recommended.
Driving
Austroads guidance addresses driving in patients with implantable defibrillators, ventricular arrhythmia history, and reduced LV function. Patients with syncope warrant case-by-case assessment.
Prognosis
Prognosis varies by phenotype, severity, response to therapy, and presence of high-risk features. With contemporary disease-modifying therapy and device therapy, outcomes for many cardiomyopathies have improved substantially in the last decade.
Psychological dimension
A genetic cardiomyopathy diagnosis often carries substantial psychological burden — fear of sudden death, implications for family members, restriction of valued activities, and the impact of device therapy on body image and mood. Specialist psychology referral is integral to comprehensive care.
Role of the physiotherapist
Exercise is prescribed cautiously and by phenotype. Within a specialist pathway the physiotherapist delivers individualised cardiac rehabilitation, avoids high-intensity or heavy isometric work in hypertrophic and arrhythmogenic phenotypes, monitors symptoms, and educates on pacing, warning signs and safe activity.
Warning signs
Part 1 · References
- Arbelo E, Protonotarios A, Gimeno JR, et al. 2023 ESC guidelines for the management of cardiomyopathies. Eur Heart J 2023;44(37):3503–3626.
- 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.
- Olivotto I, Oreziak A, Barriales-Villa R, et al. Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial. Lancet 2020;396(10253):759–769.
- McDonagh TA, Metra M, Adamo M, et al. 2021 ESC guidelines for the diagnosis and treatment of acute and chronic heart failure. Eur Heart J 2021;42(36):3599–3726.
- Saberi S, Wheeler M, Bragg-Gresham J, et al. Effect of moderate-intensity exercise training on peak oxygen consumption in patients with hypertrophic cardiomyopathy (RESET-HCM): a randomized clinical trial. JAMA 2017;317(13):1349–1357.
- Lampert R, Ackerman MJ, Marino BS, et al. Vigorous exercise in patients with hypertrophic cardiomyopathy (LIVE-HCM). JAMA Cardiol 2023;8(6):595–605.
- O'Connor CM, Whellan DJ, Lee KL, et al. Efficacy and safety of exercise training in patients with chronic heart failure: HF-ACTION randomized controlled trial. JAMA 2009;301(14):1439–1450.
- Taylor RS, Walker S, Smart NA, et al. Impact of exercise rehabilitation on exercise capacity and quality-of-life in heart failure: individual participant meta-analysis. J Am Coll Cardiol 2019;73(12):1430–1443.
- James CA, Bhonsale A, Tichnell C, et al. Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. J Am Coll Cardiol 2013;62(14):1290–1297.
- Wang W, Orgeron G, Tichnell C, et al. Impact of exercise restriction on arrhythmic risk among patients with arrhythmogenic right ventricular cardiomyopathy. J Am Heart Assoc 2018;7(12):e008843.
- Pelliccia A, Sharma S, Gati S, et al. 2020 ESC guidelines on sports cardiology and exercise in patients with cardiovascular disease. Eur Heart J 2021;42(1):17–96.
References are numbered in citation order (Vancouver/BMJ style) and were current at the time of writing. Guidelines are living documents — verify against the latest version before clinical use.
Supervised exercise, breathing technique and self-management education are the mainstay of cardiorespiratory physiotherapy for this condition.
Clinical evidence
Part 1 covers the same condition without the technical detail. What follows is the evidence base behind it, written for clinicians — the literature, the reasoning and the gaps.
For clinicians: this summary supports clinical reasoning and is not a protocol. Check current guidelines and local policy before applying it, and read it alongside the key references and guidelines directory.
Framing. "Cardiomyopathy" is not one exercise problem but four. The 2023 ESC cardiomyopathy guideline organises care around phenotype — hypertrophic, dilated, arrhythmogenic right ventricular, restrictive — with genotype, family history and imaging driving risk stratification.1 Exercise advice differs sharply between them, and in one of them exercise is itself disease-modifying, so a generic "cardiac rehabilitation" prescription is unsafe practice.
Phenotype-specific evidence
- Hypertrophic cardiomyopathy — restriction has been substantially liberalised. In the prospective LIVE-HCM cohort, vigorous exercise (including competitive sport) was not associated with a higher rate of death or ventricular arrhythmia than moderate exercise, and the 2024 AHA/ACC guideline now supports shared decision-making rather than blanket disqualification.2,3 RESET-HCM showed moderate-intensity training produced a small but significant improvement in peak VO2 with no safety signal.4 Cardiac myosin inhibition (mavacamten) improves symptoms and gradient in obstructive disease and is changing who presents for rehabilitation.5
- Dilated cardiomyopathy / HFrEF — exercise training is standard care. HF-ACTION found modest reductions in the adjusted composite of all-cause mortality and hospitalisation with improved health status, and individual-participant meta-analysis confirms gains in exercise capacity and quality of life.6,7
- Arrhythmogenic right ventricular cardiomyopathy — exercise is harmful. Endurance and frequent high-intensity exercise increases age-related penetrance and arrhythmic risk in desmosomal variant carriers, and exercise restriction is associated with lower arrhythmic risk. Restriction is disease-modifying treatment, not caution.8,9
- Restrictive phenotypes (including cardiac amyloidosis) are limited by fixed filling: they tolerate volume shifts and tachycardia poorly, and evidence for structured training is largely extrapolated from heart failure populations.1,10
Physiotherapy implications
- Establish the phenotype, the genotype status and the treating cardiologist's parameters before the first session. The label alone does not determine the prescription; ARVC and HCM point in opposite directions.1,11
- In HCM: most patients can train at moderate and often vigorous intensity after individualised assessment; avoid maximal isometric loading, breath-holding and Valsalva, extremes of heat and dehydration, and be alert to left ventricular outflow tract obstruction that worsens with preload reduction.
- In ARVC: counsel out of endurance and competitive training, cap intensity per the treating service, and reframe the goal as function and symptom control rather than fitness gains.8,9
- In DCM/HFrEF: apply standard heart-failure rehabilitation — symptom-limited aerobic training with graded resistance work, daily weights, fluid and symptom monitoring, and delay progression during decompensation.6,7
- With an implanted defibrillator: know the programmed therapy zone and keep training heart rate approximately 20 bpm below it, respect early post-implant shoulder restrictions, and have a documented plan for what to do if a shock is delivered during a session.
- Stop and escalate for syncope or pre-syncope, palpitations with light-headedness, exertional chest pain, new orthopnoea or paroxysmal nocturnal dyspnoea, or a rapid gain in weight.
- Ask about the family. First-degree relatives of an index case warrant cardiac screening; physiotherapists frequently meet the family before the genetics service does.1
Clinical reasoning
- Symptoms in cardiomyopathy are often load-dependent rather than effort-dependent — obstruction, arrhythmia and filling pressure explain more than deconditioning does. Investigate before progressing intensity.
- Deconditioning coexists with all four phenotypes and is treatable; the task is to train what is safe rather than to withhold everything.
- Distinguish physiological athletic remodelling from pathology through the treating service, not in the gym.
- Persistent breathlessness on optimised therapy warrants re-referral rather than escalating training load.
Evidence gaps
- No randomised trial establishes the safe upper limit of exercise intensity in HCM; LIVE-HCM is prospective observational with self-selected activity levels.3
- The exercise dose threshold at which ARVC risk rises — and whether restriction reverses accumulated risk — is not defined.8,9
- Rehabilitation evidence for restrictive and amyloid phenotypes is essentially absent.
- Effects of cardiac myosin inhibitors on exercise prescription and rehabilitation outcomes have not been studied.5
References for the clinical evidence summary
- Arbelo E, Protonotarios A, Gimeno JR, et al. 2023 ESC guidelines for the management of cardiomyopathies. Eur Heart J 2023;44(37):3503–3626.
- 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.
- Lampert R, Ackerman MJ, Marino BS, et al. Vigorous exercise in patients with hypertrophic cardiomyopathy (LIVE-HCM). JAMA Cardiol 2023;8(6):595–605.
- Saberi S, Wheeler M, Bragg-Gresham J, et al. Effect of moderate-intensity exercise training on peak oxygen consumption in patients with hypertrophic cardiomyopathy (RESET-HCM): a randomized clinical trial. JAMA 2017;317(13):1349–1357.
- Olivotto I, Oreziak A, Barriales-Villa R, et al. Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial. Lancet 2020;396(10253):759–769.
- O'Connor CM, Whellan DJ, Lee KL, et al. Efficacy and safety of exercise training in patients with chronic heart failure: HF-ACTION randomized controlled trial. JAMA 2009;301(14):1439–1450.
- Taylor RS, Walker S, Smart NA, et al. Impact of exercise rehabilitation on exercise capacity and quality-of-life in heart failure: individual participant meta-analysis. J Am Coll Cardiol 2019;73(12):1430–1443.
- James CA, Bhonsale A, Tichnell C, et al. Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. J Am Coll Cardiol 2013;62(14):1290–1297.
- Wang W, Orgeron G, Tichnell C, et al. Impact of exercise restriction on arrhythmic risk among patients with arrhythmogenic right ventricular cardiomyopathy. J Am Heart Assoc 2018;7(12):e008843.
- McDonagh TA, Metra M, Adamo M, et al. 2021 ESC guidelines for the diagnosis and treatment of acute and chronic heart failure. Eur Heart J 2021;42(36):3599–3726.
- Pelliccia A, Sharma S, Gati S, et al. 2020 ESC guidelines on sports cardiology and exercise in patients with cardiovascular disease. Eur Heart J 2021;42(1):17–96.
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