Cardiomyopathy Guidelines

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Lina Ya'qoub,MD, Edzel Lorraine Co, DMD, MD[2]

2023 ESC Guideline Recommendations

Recommendations for the Provision of Service of Multidisciplinary Cardiomyopathy Teams

Class I	Level of Evidence
1. It is recommended that all patients with cardiomyopathy and their relatives have access to multidisciplinary teams with expertise in the diagnosis and management of cardiomyopathies.	C
2. Timely and adequate preparation for transition of care from pediatric to adult services, including joint consultations, is recommended in all adolescents with cardiomyopathy.	C

Recommendations for Diagnostic Work-up in Cardiomyopathies

Class I	Level of Evidence
1. It is recommended that all patients with suspected or established cardiomyopathy undergo systematic evaluation using a multiparametric approach that includes clinical evaluation, pedigree analysis, ECG, Holter monitoring, laboratory tests, and multimodality imaging.	C
2. It is recommended that all patients with suspected cardiomyopathy undergo evaluation of family history and that a three- to four-generation family tree is created to aid in diagnosis, provide clues to underlying etiology, determine inheritance pattern, and identify at- risk relatives	C

Recommendations for Laboratory Tests in the Diagnosis of Cardiomyopathies

Class I	Level of Evidence
1. Routine (first-level) laboratory tests are recommended in all patients with suspected or confirmed cardiomyopathy to evaluate etiology, assess disease severity, and aid in detection of extra-cardiac manifestations and assessment of secondary organ dysfunction.	C

Recommendations for Echocardiographic Evaluation in Patients with Cardiomyopathies

Class I	Level of Evidence
1. A comprehensive evaluation of cardiac dimensions and LV and RV systolic (global and regional) and LV diastolic function is recommended in all patients with cardiomyopathy at initial evaluation, and during follow-up, to monitor disease progression and aid risk stratification and management.	B

Recommendations for Cardiac Magnetic Resonance Indication in Patients with Cardiomyopathies

Class I	Level of Evidence
1. Contrast-enhanced CMR is recommended in patients with cardiomyopathy at initial evaluation.	B

Recommendations for Computed Tomography and Nuclear Imaging

Class I	Level of Evidence
1. DPD/PYP/HMDP bone-tracer scintigraphy is recommended in patients with suspected ATTR-related cardiac amyloidosis to aid diagnosis.	B

Recommendations for Genetic Counselling and Testing in Cardiomyopathies

Genetic Counselling
Class I	Level of Evidence
1. Genetic counselling, provided by an appropriately trained healthcare professional and including genetic education to inform decision-making and psychosocial support, is recommended for families with an inherited or suspected inherited cardiomyopathy, regardless of whether genetic testing is being considered.	B
2. It is recommended that genetic testing for cardiomyopathy is performed with access to a multidisciplinary team, including those with expertise in genetic testing methodology, sequence variant interpretation, and clinical application of genetic testing, typically in a specialized cardiomyopathy service or in a network model with access to equivalent expertise.	B
3. Pre- and post-test genetic counselling is recommended in all individuals undergoing genetic testing for cardiomyopathy.	C
Index Patients
Class I	Level of Evidence
1.Genetic testing is recommended in patients fulfilling diagnostic criteria for cardiomyopathy in cases where it enables diagnosis, prognostication], therapeutic stratification, or reproductive management of the patient, or where it enables cascade genetic evaluation of their relatives who would otherwise be enrolled into long-term surveillance.	B
2. Genetic testing is recommended for a deceased individual identified to have cardiomyopathy at post-mortem if a genetic diagnosis would facilitate management of surviving relatives.	C
Family Members
Class I	Level of Evidence
1. It is recommended that cascade genetic testing, with pre- and post-test counselling, is offered to adult at-risk relatives if a confident genetic diagnosis (i.e. a P/LP variant) has been established in an individual with cardiomyopathy in the family (starting with first-degree relatives if available, and cascading out sequentially).	B
Class III	Level of Evidence
2. Diagnostic genetic testing is not recommended in a phenotype-negative relative of a patient with cardiomyopathy in the absence of a confident genetic diagnosis (i.e. a P/LP variant) in the family.	C

Recommendations for Cardiac Implantation in Patients with Cardiomyopathy

Class I	Level of Evidence
1. Orthotopic cardiac transplantation is recommended for eligible cardiomyopathy patients with advanced heart failure (NYHA class III–IV) or intractable ventricular arrhythmia refractory to medical/invasive/device therapy, and who do not have absolute contraindications.	C
2. It is recommended that all patients with suspected cardiomyopathy undergo evaluation of family history and that a three- to four-generation family tree is created to aid in diagnosis, provide clues to underlying etiology, determine inheritance pattern, and identify at- risk relatives	C

Recommendations for Management of Atrial Fibrillation and Atrial Flutter in Patients with Cardiomyopathy

Anticoagulation
Class I	Level of Evidence
1. Oral anticoagulation in order to reduce the risk of stroke and thromboembolic events is recommended in all patients with HCM or cardiac amyloidosis and AF or atrial flutter (unless contraindicated).	B
2. Oral anticoagulation to reduce the risk of stroke and thromboembolic events is recommended in patients with DCM, NDLVC, or ARVC, and AF or atrial flutter with a CHA2DS2-VASc score ≥2 in men or ≥3 in women.	B
Control of symptoms and heart failure
Class I	Level of Evidence
1.Atrial fibrillation catheter ablation is recommended forrhythm control after one failed or intolerant class I or III AAD to improve symptoms of AF recurrences in patients with paroxysmal or persistent AF and cardiomyopathy.	B
2. Atrial fibrillation catheter ablation is recommended to reverse LV dysfunction in AF patients with cardiomyopathy when a tachycardia-induced component is highly probable, independent of their symptom status.	B
Comorbidities and associated risk factor management
Class I	Level of Evidence
1. Modification of an unhealthy lifestyle and targeted therapy of intercurrent conditions is recommended to reduce AF burden and symptom severity in patients with cardiomyopathy.	B

Recommendations for Implantable Cardioverter Defibrillator in Patients with Cardiomyopathy

General Recommendations
Class I	Level of Evidence
1. Implantation of a cardioverter defibrillator is only recommended in patients who have an expectation of good qualitysurvival >1 year.	C
2. It is recommended that ICD implantation be guided by shared decision-making that: Is evidence-based; Considers a person’s individual preferences, beliefs, circumstances, and values; and Ensures that the person understands the benefits, harm, and possible consequences of different treatment options	C
3. It is recommended that prior to ICD implantation, patients are counselled on the risk of inappropriate shocks, implant complications, and the social, occupational, and driving implications of the device.	C
Class III	Level of Evidence
4. It is not recommended to implant an ICD in patients with incessant ventricular arrhythmias until the ventricular arrhythmia is controlled.	C
Secondary Prevention
Implantation of an ICD is recommended:
Class I	Level of Evidence
In patients with HCM, DCM, and ARVC who have survived a cardiac arrest due to VT or VF, or who have spontaneous sustained ventricular arrhythmia causing syncope or hemodynamic compromise in the absence of reversible causes.	B
In patients with NDLVC and RCM who have survived a cardiac arrest due to VT or VF, or who have spontaneous sustained ventricular arrhythmia causing syncope or hemodynamic compromise in the absence of reversible causes.	C
Primary Prevention
Class I	Level of Evidence
1. Comprehensive SCD risk stratification is recommended in all cardiomyopathy patients who have not suffered a previous cardiac arrest/ sustained ventricular arrhythmia at initial evaluation and at 1–2 year intervals, or whenever there is a change in clinical status.	C
2. The use of validated SCD algorithms/scores as aids to the shared decision-making when offering ICD implantation, where available is recommended in patients with HCM.	B
Choice of ICD
Class I	Level of Evidence
1. When an ICD is indicated, it is recommended to evaluate whether the patient could benefit from CRT.	A

Recommendations for Routine Follow-up of Patients with Cardiomyopathy

Class I	Level of Evidence
1. It is recommended that all clinically-stable patients with cardiomyopathy undergo routine follow-up using a multi-parametric approach that includes ECG and echocardiography every 1–2 years.	C
2. Clinical evaluation with ECG and multimodality imaging is recommended in patients with cardiomyopathy whenever there is a substantial or unexpected change in symptoms.	C

Recommendations for Family Screening and Follow-up Evaluation of Relatives

Class I	Level of Evidence
1. Following cascade genetic testing, clinical evaluation using a multi-parametric approach that includes ECG and cardiac imaging and long-term follow-up is recommended in first-degree relatives who have the same disease-causing variant as the proband.	B
2. Following cascade genetic testing, it is recommended that first-degree relatives without a phenotype who do not have the same disease-causing variant as the proband are discharged from further follow-up but advised to seek re-assessment if they develop symptoms or when new clinically relevant data emerge in the family.	C
3. It is recommended that when no P/LP variant is identified in the proband or genetic testing is not performed, an initial clinical evaluation using a multi-parametric approach that includes ECG and cardiac imaging is performed in first-degree relatives.	C

Recommendations for Psychological Support in Patients and Family Members with Cardiomyopathies

Class I	Level of Evidence
1. It is recommended that psychological support by an appropriately trained health professional be offered to all individuals who have experienced the premature sudden cardiac death of a family member with cardiomyopathy.	B
2. It is recommended that psychological support by an appropriately trained health professional be offered to all individuals with an inherited cardiomyopathy who receive an implantable cardioverter defibrillator.	B

Recommendation for Evaluation of Left Ventricular Outflow Tract Obstruction

Class I	Level of Evidence
1. In all patients with HCM, at initial evaluation, transthoracic 2D and Doppler echocardiography are recommended, at rest and during Valsalva maneuver in the sitting and semi-supine positions — and then on standing if no gradient is provoked—to detect LVOTO.	B
2. In symptomatic patients with HCM and a resting or provoked peak instantaneous LV outflow tract gradient <50 mmHg, 2D and Doppler echocardiography during exercise in the standing, sitting (when possible), or semi-supine position are recommended to detect provocable LVOTO and exercise-induced mitral regurgitation.	B

Recommendations for Septal Reduction Therapy

Class I	Level of Evidence
1. It is recommended that SRT be performed by experienced operators working as part of a multidisciplinary team expert in the management of HCM.	C
2. SRT to improve symptoms is recommended in patients with a resting or maximum provoked LVOT gradient of ≥50 mmHg who are in NYHA/Ross functional class III–IV, despite maximum tolerated medical therapy.	B
2. Septal myectomy, rather than ASA, is recommended in children with an indication for SRT, as well as in adult patients with an indication for SRT and other lesions requiring surgical intervention (e.g. mitral valve abnormalities).	C

Additional Recommendations for Prevention of Sudden Cardiac Death in Patients with Hypertrophic Cardiomyopathy

Secondary Prevention
Class I	Level of Evidence
1. Implantation of an ICD is recommended in patients who have survived a cardiac arrest due to VT or VF, or who have spontaneous sustained VT with hemodynamic compromise.	B
Primary Prevention
1. The HCM Risk-SCD calculator is recommended as a method of estimating risk of sudden death at 5 years in patients aged ≥16 years for primary prevention.	B
2. Validated pediatric-specific risk-prediction models (e.g. HCM Risk-Kids) are recommended as a method of estimating risk of sudden death at 5 years in patients aged <16 years for primary prevention.	B
3. It is recommended that the 5-year risk of SCD be assessed at first evaluation and re-evaluated at 1–2 year intervals or whenever there is a change in clinical status.	B

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