💔 Hypertrophic cardiomyopathy (HCM) is an inherited cardiomyopathy that may present with exertional symptoms, arrhythmia, syncope, or rarely sudden cardiac death, including in young people. 🧬 Even if no pathogenic variant is identified in the proband, first-degree relatives still require clinical screening because a negative genomic test does not exclude a genetic basis.

📖 About

Defined in adults as otherwise unexplained LV wall thickness ≥15 mm in one or more myocardial segments.
Causes diastolic dysfunction, myocardial ischaemia, atrial and ventricular arrhythmias, and sometimes dynamic LV outflow tract obstruction (LVOTO).
Prevalence is about 1 in 500.
Obstructive HCM is usually defined by LVOT gradient ≥30 mmHg at rest or with provocation.

👶 Family Screening

If a pathogenic variant is identified → offer cascade genetic testing to relatives.
If genomic testing is non-diagnostic → clinical screening of first-degree relatives is still recommended.
Screening usually includes ECG and echocardiography.
Children/adolescents from genotype-positive or early-onset families: every 1–2 years.
Other children/adolescents: every 2–3 years, starting no later than puberty.
Adults: every 3–5 years, or sooner if symptoms develop.

⚠️ SCD Risk

Important markers include family history of SCD, recent unexplained syncope, NSVT, massive LVH, apical aneurysm, LGE/fibrosis on CMR, and impaired LV systolic function.
🧠 ICD decisions should follow specialist risk stratification; avoid saying “ICD indicated” on the basis of 2–3 isolated exam features alone.

💊 Management

🥇 Beta-blockers are first-line for symptomatic obstructive HCM.
🔁 Verapamil may be used in selected patients if beta-blockers are unsuitable.
➕ Disopyramide can be added for persistent LVOTO symptoms.
🧬 Mavacamten is a NICE-approved option for symptomatic obstructive HCM in adults with NYHA class II–III alongside standard care.
🔪 Septal reduction therapy (myectomy or alcohol septal ablation) is considered in specialist centres if severe symptoms persist despite medical therapy.

Septal Hypertrophy in HCM

📚 References

📘 NICE TA913: Mavacamten for treating symptomatic obstructive hypertrophic cardiomyopathy. NICE, 2023.
🧬 NHS Genomics Education: Hypertrophic cardiomyopathy – Knowledge Hub.
🌍 ESC Guidelines 2023: Guidelines for the management of cardiomyopathies.
🇺🇸 AHA/ACC 2024: Guideline for the Management of Hypertrophic Cardiomyopathy.

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Hypertrophic cardiomyopathy (HCM - HOCM) ✅

📖 About

👶 Family Screening

⚠️ SCD Risk

💊 Management

📚 References

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