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Hypertrophic cardiomyopathy

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, ventricular tachycardia. 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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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 European Society of Cardiology (ESC 2023; 2022; 2018; 2014), the American Heart Association (AHA/ACC 2020), and the American Heart Association (AHA/HRS/ACC 2019; 2018).
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Guidelines

1.Screening and diagnosis

Screening of family relatives, clinical and genetic testing, ESC: obtain cascade genetic testing, with pre- and post-test counseling, in adult at-risk relatives of a patient with cardiomyopathy with a confident genetic diagnosis (a pathogenic/likely pathogenic variant) in the family (starting with first-degree relatives, if available, and cascading out sequentially).
B
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  • Screening of family relatives (cardiac MRI)

  • Screening of family relatives (follow-up)

  • Screening of family relatives (counseling)

2.Classification and risk stratification

Sudden cardiac death risk assessment: as per ESC 2023 guidelines, use the HCM Risk-SCD calculator to estimate the risk of SCD at 5 years in patients aged ≥ 16 years for primary prevention.
B
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3.Diagnostic investigations

General principles: 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.
B

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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

  • Laboratory tests

  • Genetic testing

4.Diagnostic procedures

Coronary angiography: as per AHA 2020 guidelines, obtain diagnostic investigations to assess for concomitant causes of systolic dysfunction including coronary artery disease in patients with HCM and systolic dysfunction.
B
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  • Cardiac catheterization

  • Electrophysiological study

  • Endomyocardial biopsy

5.Medical management

General principles
As per ESC 2023 guidelines:
Ensure that all patients with cardiomyopathy and their relatives have access to multidisciplinary teams with expertise in the diagnosis and management of cardiomyopathies.
B
Identify and manage risk factors and concomitant diseases as an integral part of the management of patients with cardiomyopathy.
B

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  • Antiarrhythmic drugs

  • Management of obstructive symptoms

  • Management of chest pain

  • Management of hypertension

  • Management of HF

  • Management of AF (rhythm/rate control)

  • Management of AF (antithrombotic therapy)

  • Management of AF (catheter ablation)

  • Medications to avoid

6.Nonpharmacologic interventions

Lifestyle modifications
Advise comprehensive lifestyle interventions to achieve and maintain weight loss and possibly lower the risk of developing LVOTO, HF, and AF in patients with HCM with obesity/overweight.
B
Advise lifestyle modifications in patients with HCM and hypertension.
B

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  • Physical activity restrictions

  • Psychological support

7.Therapeutic procedures

Indications for implantable cardioverter-defibrillator implantation, general principles, ESC: obtain comprehensive SCD risk stratification in all patients with cardiomyopathy not suffered a previous cardiac arrest/sustained ventricular arrhythmia at initial evaluation and at 1-2 year intervals or whenever a change in clinical status occurs.
B
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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

8.Perioperative care

Perioperative assessment: obtain perioperative ECG monitoring in all patients with cardiomyopathy undergoing noncardiac surgery.
B
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9.Surgical interventions

Septal reduction therapy: as per ESC 2023 guidelines, perform septal reduction therapy to improve symptoms in patients with resting or maximum provoked LVOT gradient ≥ 50 mmHg in NYHA/Ross functional class III-IV despite maximum tolerated medical therapy.
B
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  • Apical myectomy

  • Mitral valve repair

  • LV assist device

  • Heart transplantation

10.Specific circumstances

Pregnant patients: as per ESC 2023 guidelines, obtain prenatal diagnostic testing early in pregnancy, if it is to be pursued by the family, to allow making decisions regarding continuation or coordination of pregnancy.
B
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  • Patients with negative phenotype

11.Patient education

Genetic counseling
As per ESC 2023 guidelines:
Provide genetic counseling by an appropriately trained healthcare professional, including genetic education, to inform decision-making and psychosocial support in families with an inherited or suspected inherited cardiomyopathy, regardless of whether genetic testing is being considered.
B
Provide pre- and post-test genetic counseling in all individuals undergoing genetic testing for cardiomyopathy.
B

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  • High-risk occupations

12.Follow-up and surveillance

Indications for referral: as per AHA 2020 guidelines, consider referring patients with HCM to a comprehensive or primary HCM center to aid in complex disease-related management decisions.
C

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  • Follow-up (clinical surveillance)

  • Follow-up (ECG and TTE)

  • Follow-up (CMR)

  • Follow-up (exercise testing)

  • Transition to adult care