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Hypertrophic cardiomyopathy

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Updated 2024 AHA/ACC guidelines for the diagnosis and management of hypertrophic cardiomyopathy.

Background

Overview

Definition
HCM is a genetic disorder characterized by LVH and a non-dilated left ventricle with preserved or increased ejection fraction.
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Pathophysiology
HCM is most frequently caused by genetic mutations in genes (β-myosin heavy chain [MYH7] and myosin binding protein C [MYBPC3]) encoding sarcomere proteins. LVH leads to diastolic dysfunction, reduced systolic output volume, decreased peripheral and myocardial perfusion, cardiac arrhythmia and/or HF and finally increased risk of SCD.
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Epidemiology
The prevalence of HCM in the US is low, with an estimated 200 cases per 100,000 population. HCM incidence is bimodal (peak incidence in the second decade and third decade of life).
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Disease course
Clinical manifestations include symptoms due to increased LV end-diastolic pressure (exertional dyspnea, exercise intolerance, orthopnea, peripheral edema, and HFpEF), LV outflow obstruction (exertional or immediately post-exertional syncope, ventricular arrhythmia), chest pain, palpitations, VT. Disease progression may lead to AF, hypertension, valvular disease, HF, and SCD.
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Prognosis and risk of recurrence
HCM is associated with an annual mortality rate of 0.5%, and mortality is higher in children. However, SCD is often the first clinical manifestation.
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Guidelines

Key sources

The following summarized guidelines for the evaluation and management of hypertrophic cardiomyopathy are prepared by our editorial team based on guidelines from the American Medical Society for Sports Medicine (AMSSM/SCMR/AHA/HRS/ACC/PACES 2024), the Heart Rhythm Society (HRS 2024), the Society of Cardiovascular Computed Tomography (SCCT/SVM/SCMR/SCA/AHA/ASNC/HRS/ACC/ACS 2024), the European Society of Cardiology (ESC 2023,2022,2018,2014), and the American Heart Association (AHA/HRS/ACC 2019,2018).
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Screening and diagnosis

Screening of family relatives, ECG: as per ACC/AHA/AMSSM/…/SCMR 2024 guidelines, obtain a 12-lead ECG as part of the screening algorithm in first-degree relatives of patients with HCM.
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  • Screening of family relatives (echocardiography)

  • Screening of family relatives (cardiac MRI)

  • Screening of family relatives (genetic testing)

  • Screening of family relatives (counseling)

  • Screening of family relatives (follow-up)

Classification and risk stratification

SCD risk assessment
As per ACC/AHA/AMSSM/…/SCMR 2024 guidelines:
Obtain a comprehensive, systematic noninvasive SCD risk assessment at initial evaluation, including evaluation of the following risk factors, in adult patients with HCM:
personal history of cardiac arrest or sustained ventricular arrhythmia
personal history of syncope suspected by clinical history to be arrhythmic
family history in a close relative of premature HCM-related sudden death, cardiac arrest, or sustained ventricular arrhythmia
maximal LV wall thickness, ejection fraction, LV apical aneurysm
nonsustained VT episodes on continuous ambulatory ECG monitoring
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Consider obtaining echocardiography-derived LA diameter and maximal LVOT gradient in patients aged ≥ 16 years with HCM to aid in calculating an estimated 5-year sudden death risk to be used in shared decision-making for ICD implantation.
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Diagnostic investigations

General principles: as per ESC 2023 guidelines, obtain systematic evaluation in all patients with suspected or established cardiomyopathy using a multiparametric approach, including clinical evaluation, pedigree analysis, ECG, Holter monitoring, laboratory tests, and multimodality imaging.
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  • History and physical examination

  • ECG

  • Ambulatory ECG monitoring

  • Implantable loop recorder

  • TTE

  • TEE

  • Contrast-enhanced echocardiogram

  • Cardiac MRI

  • Cardiac CT

  • Nuclear imaging

  • Cardiopulmonary exercise testing

  • Evaluation of unexplained syncope

  • Evaluation for coronary artery disease

  • Laboratory tests

  • Genetic testing

Diagnostic procedures

Coronary angiography
As per ACC/AHA/AMSSM/…/SCMR 2024 guidelines:
Obtain coronary angiography (CT or invasive) in patients with HCM having symptoms or evidence of myocardial ischemia.
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Obtain coronary angiography (CT or invasive) before surgical myectomy in patients with HCM at risk of coronary atherosclerosis.
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  • Cardiac catheterization

  • Electrophysiological study

  • Endomyocardial biopsy

Medical management

General principles: as per ACC/AHA/AMSSM/…/SCMR 2024 guidelines, employ shared decision-making in developing a plan of care (including, but not limited to, decisions regarding genetic evaluation, activity, lifestyle, and treatment choices) for patients with or at risk of HCM, including a full disclosure of the risks, benefits, and anticipated outcomes of all options, as well the opportunity for the patient and caregivers to express their goals and concerns.
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  • Antiarrhythmic drugs

  • Management of obstructive symptoms (beta-blockers and CCBs)

  • Management of obstructive symptoms (disopyramide)

  • Management of obstructive symptoms (myosin inhibitors)

  • Management of obstructive symptoms (diuretics)

  • Management of obstructive symptoms (vasoconstrictors)

  • Management of obstructive symptoms (medications to avoid)

  • Management of chest pain

  • Management of hypertension

  • Management of HFpEF

  • Management of HFrEF

  • Management of AF (rhythm/rate control)

  • Management of AF (antithrombotic therapy)

  • Management of AF (catheter ablation)

  • Medications to avoid

Nonpharmacologic interventions

Lifestyle modifications
As per ACC/AHA/AMSSM/…/SCMR 2024 guidelines:
Offer counseling and comprehensive lifestyle interventions to achieve and maintain weight loss and possibly reduce the risk of developing LVOTO, HF, and AF in patients with HCM and overweight or obesity.
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Offer lifestyle modifications and medical therapy for hypertension, with a preference for β-blockers and nondihydropyridine CCBs, in patients with obstructive HCM and hypertension.
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  • Physical activity restrictions

  • Psychological support

Therapeutic procedures

Indications for ICD implantation, general principles: as per ACC/AHA/AMSSM/…/SCMR 2024 guidelines, apply individual clinical judgment when assessing the prognostic strength of conventional risk markers within the clinical profile of the individual patient, and a thorough and balanced discussion of the evidence, benefits, and estimated risks to engage the fully informed patient's active participation in decision-making of placing an ICD.
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  • Indications for ICD implantation (< 4% risk of SCD)

  • Indications for ICD implantation (4-6% risk of SCD)

  • Indications for ICD implantation (>= 6% risk of SCD)

  • Indications for ICD implantation (post cardiac arrest)

  • Indications for ICD implantation (pediatric patients)

  • Technical considerations for ICD implantation

  • Catheter ablation (ventricular arrhythmia)

  • Catheter ablation (AF)

  • Permanent pacing

Surgical interventions

Septal reduction therapy, general principles: as per ACC/AHA/AMSSM/…/SCMR 2024 guidelines, perform septal reduction therapy to relieve LVOTO in eligible patients with obstructive HCM remaining symptomatic despite guideline-directed medical therapy.
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  • Septal reduction therapy (preoperative coronary angiography)

  • Septal reduction therapy (surgical myectomy)

  • Septal reduction therapy (alcohol septal ablation)

  • Septal reduction therapy (intraoperative TEE)

  • Septal reduction therapy (postprocedural monitoring)

  • Apical myectomy

  • Mitral valve repair

  • LV assist device

  • Heart transplantation

Specific circumstances

Pediatric patients: as per ACC/AHA/AMSSM/…/SCMR 2024 guidelines, obtain a comprehensive, systematic noninvasive SCD risk assessment at initial evaluation and every 1-2 years thereafter, including evaluation of the following risk factors, in pediatric and adolescent patients with HCM:
personal history of cardiac arrest or sustained ventricular arrhythmia
personal history of syncope suspected by clinical history to be arrhythmic
family history in a close relative of premature HCM-related sudden death, cardiac arrest, or sustained ventricular arrhythmia
maximal LV wall thickness, ejection fraction, LV apical aneurysm
nonsustained VT episodes on continuous ambulatory ECG monitoring.
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  • Pregnant patients

  • Athletes (evaluation)

  • Athletes (return to sport)

  • Patients with negative phenotype

  • Patients undergoing noncardiac surgery

Patient education

Genetic counseling: as per ACC/AHA/AMSSM/…/SCMR 2024 guidelines, provide genetic counseling (by an expert in the genetics of CVD) to patients with HCM regarding the risks, benefits, test results, and their clinical significance in a shared decision-making process.
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  • High-risk occupations

Follow-up and surveillance

Indications for referral: as per ACC/AHA/AMSSM/…/SCMR 2024 guidelines, consider consulting with or referring to a comprehensive or primary HCM center to aid in complex disease-related management decisions.
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  • Follow-up (clinical surveillance)

  • Follow-up (ECG and TTE)

  • Follow-up (cardiac MRI)

  • Follow-up (exercise testing)

  • Transition to adult care