Clinical resource for cardiomyopathies, channelopathies, and related conditions
American Heart Association / American College of Cardiology, 2020
View Guideline →European Society of Cardiology, 2022
View Guideline →European Society of Cardiology, 2023
Comprehensive evidence-based guidelines covering HCM, DCM, ARVC, RCM, and genetic/metabolic cardiomyopathies. Includes validated risk stratification tools (HCM Risk-SCD, HCM Risk-Kids) and updated diagnostic criteria.
View Guideline →Heart Rhythm Society, 2013
Consensus on diagnosis and management of Long QT, Brugada, CPVT, Short QT, Early Repolarization, and unexplained cardiac arrest.
View Guideline →American College of Medical Genetics, 2024
View Guideline →These criteria are from the NHS England National Genomic Test Directory. Tests must be delivered by a Genomic Laboratory Hub and should only be requested where results are highly likely to change clinical management.
Important: Criteria use "OR" / "AND" logic. When multiple criteria are listed with "OR", meeting ANY ONE is sufficient. When "AND" is used, ALL criteria must be met.
Testing Method: WES or Medium Panel | Requesting Specialties: Cardiology, Clinical Genetics
Testing criteria (meet ONE OR MORE):
Additional requirements:
Note: R135 Paediatric/syndromic cardiomyopathy should be used where atypical features suggest broader gene testing needed
Testing Method: WES or Medium Panel | Requesting Specialties: Cardiology, Clinical Genetics
Testing criteria (meet ONE OR MORE):
Exclusions: DCM secondary to coronary disease or pressure/volume overload. Consult expert before testing DCM due to myocarditis, alcohol, peripartum, chemotherapy.
Testing Method: Small Panel (134 genes) | Requesting Specialties: Cardiology, Clinical Genetics
Testing criteria (meet ONE OR MORE):
Testing Method: Small Panel (76 genes) | Requesting Specialties: Cardiology, Clinical Genetics
Testing criteria (meet ONE OR MORE):
Secondary causes must be excluded before testing
Testing Method: Small Panel (13 genes) | Requesting Specialties: Cardiology, Clinical Genetics
Testing criteria (meet ONE):
Testing Method: Small Panel (214 genes) | Requesting Specialties: Cardiology, Clinical Genetics
Structurally normal heart, normal ECG, AND:
Testing Method: Small Panel (224 genes) | Requesting Specialties: Cardiology, Clinical Genetics
Testing Method: WES/Medium Panel (841 genes) | Requesting Specialties: Cardiology, Clinical Genetics
Post-mortem testing:
Cardiac arrest survivors (idiopathic VF):
Panel: 841 genes covering all ICC, channelopathies, cardiomyopathies, SCD-associated genes
All testing should be:
Full guidelines: National Genomic Test Directory v8.1
Genetic counselling is an essential component of the care pathway for patients with inherited cardiac conditions and their families. It provides information, support, and guidance regarding genetic testing, inheritance patterns, and family screening.
Who provides genetic counselling: Certified genetic counsellors or clinicians with appropriate training in genetics
Pre-test counselling is mandatory before genetic testing for inherited cardiac conditions
Post-test counselling should be provided regardless of result (positive, negative, or VUS)
Exercise recommendations are based on ESC and AHA/ACC guidelines. The matrix below provides a quick reference for condition-specific recommendations. Detailed guidance follows.
| Condition | Low Intensity | Moderate Intensity | Vigorous Intensity | Competitive Sport |
|---|---|---|---|---|
| HCM | ✓ Permitted | ⚠ Restricted Low-risk only |
✗ Contraindicated | ✗ Contraindicated |
| DCM | ✓ Permitted | ✓ Permitted If LVEF >35-40% |
⚠ Restricted Stable, LVEF >50% |
✗ Contraindicated LVEF <50% |
| ARVC | ✓ Permitted | ✗ Contraindicated | ✗ Contraindicated | ✗ Contraindicated |
| LQTS | ✓ Permitted | ⚠ Restricted Depends on type |
✗ Contraindicated | ✗ Contraindicated |
| Brugada | ✓ Permitted | ✓ Permitted Avoid dehydration |
⚠ Restricted If asymptomatic |
✗ Contraindicated If symptomatic |
| CPVT | ✓ Permitted | ✗ Contraindicated | ✗ Contraindicated | ✗ Contraindicated |
| Marfan/TAAD | ✓ Permitted | ⚠ Restricted No contact sports |
✗ Contraindicated Aortic root >40mm |
✗ Contraindicated Contact/collision |
| Gene +ve / Pheno -ve | ✓ Permitted | ✓ Permitted Annual review |
✓ Permitted Annual review |
⚠ Restricted Shared decision |
PERMITTED
CONTRAINDICATED
Special considerations: Avoid activities that worsen LVOT gradient (Valsalva, post-exercise). Low-risk patients (no LVOTO, thinner walls, no high-risk features) may engage in moderate-intensity activities after shared decision-making.
High-risk features (any of the following warrant exercise restriction): Prior exertional syncope/presyncope, sustained VAs or cardiac arrest, family history of SCD in young relatives, severe LVH (≥30mm), extensive LGE (≥15% LV mass), severe LVOT obstruction (>50mmHg), apical aneurysm, LVEF <50%, NSVT, abnormal BP response to exercise, or HCM Risk-SCD ≥6%.
PERMITTED
CONTRAINDICATED
Special considerations: Exercise capacity improves with appropriate medical therapy. Annual assessment recommended. LMNA mutations require careful monitoring regardless of LVEF.
PERMITTED
CONTRAINDICATED
Special considerations: Exercise accelerates disease progression in ARVC ("exercise paradox"). Even moderate exercise may worsen phenotype. Strictest restrictions of all cardiomyopathies.
PERMITTED
CONTRAINDICATED
Genotype-specific: LQT1 avoid swimming/diving. LQT2 avoid loud alarms/auditory triggers. LQT3 more permissive for exercise (events at rest/sleep). All must be on adequate beta-blocker therapy.
PERMITTED
CONTRAINDICATED
Special considerations: Events typically at rest/sleep (not during exercise). More permissive than other channelopathies for asymptomatic patients. Fever is major trigger - treat aggressively.
PERMITTED
CONTRAINDICATED
Special considerations: CPVT is exercise/catecholamine-triggered - strictest exercise restrictions. Even on high-dose beta-blockers + flecainide, avoid moderate-vigorous exercise. Compliance with therapy is critical.
PERMITTED
CONTRAINDICATED
Special considerations: Exercise restrictions based on aortic dimensions. Annual imaging essential. Loeys-Dietz more aggressive (lower thresholds). Avoid Valsalva maneuvers and activities that spike blood pressure.
PERMITTED
REQUIRES MONITORING
Special considerations: True phenotype-negative carriers can exercise. Annual review essential as phenotype may develop. Competitive sport decision should involve patient, cardiologist, and sports physician. Specific gene/variant risk stratification important.
Shared decision-making: All recommendations individualized with patient and specialist input.
Regular review: Annual reassessment of exercise capacity and recommendations.
Adequate treatment: Optimize medical therapy before exercise.
Warning signs: Stop immediately if chest pain, palpitations, breathlessness, dizziness, or syncope.
Emergency plan: Patients and families should know CPR and have access to emergency services.
Key References:
Group 1 = Car/Motorcycle | Group 2 = Bus/Lorry (HGV/PCV)
⚠️ It is the PATIENT's legal responsibility to:
Failure to notify DVLA may invalidate insurance and is a criminal offence.
Group 1: Asymptomatic can drive (notify DVLA, review 1-3yr). Symptomatic: cease until 3mo symptom-free, EF>40%, no LVOT gradient>50mmHg.
Group 2: Disqualified if syncope, LVOT>30mmHg, wall≥30mm, NSVT, abnormal BP response.
Group 1: LVEF>40% can drive (annual review). LVEF≤40%: notify DVLA, cease if symptomatic.
Group 2: LVEF>45%, no symptomatic HF, annual review.
Group 1: No VT/VF/syncope + LVEF>40%: can drive. If VT/VF/syncope: cease until 3mo post-ablation OR ICD.
Group 2: Barred if VT/VF, cardiac syncope, or LVEF<45%.
LQTS Group 1: Asymptomatic + on therapy: can drive. Symptomatic: 3mo off.
LQTS Group 2: No syncope/arrest, QTc<500ms, annual review.
Brugada/CPVT: Similar - asymptomatic can drive. Group 2 barred if syncope/arrest history.
Group 1: Primary prevention: 1wk off. Secondary: 6mo off. After appropriate shock: 6mo. Inappropriate shock: 2wk (if fixed).
Group 2: ANY ICD = permanent bar.
Key Points:
Professional society for healthcare professionals working with inherited cardiac conditions
Patient support charity providing information and support for people affected by cardiomyopathy
Charity working to reduce deaths from young sudden cardiac death
Support for families affected by Sudden Arrhythmic Death Syndrome
Clinical practice guidelines and educational resources
Clinical guidelines, tools, and educational content
Authoritative resource for gene-disease validity and variant interpretation
Database of genomic variation and its relationship to human health
Professional organization for cardiac electrophysiology and arrhythmia management
UK professional body for cardiovascular healthcare professionals
International registry for arrhythmogenic right ventricular cardiomyopathy
International database for HCM patients and research