Hypertrophic Cardiomyopathy

Overview

Hypertrophic cardiomyopathy (HCM) is the most common inherited heart-muscle condition, affecting up to 1 in 500 people. The muscular wall of the left ventricle thickens, sometimes narrowing the outflow tract and pre-disposing to dangerous rhythm disturbances.

At The Royal Buckinghamshire Hospital, Aylesbury you can access fast assessment, same-day imaging and the latest disease-modifying therapies in one calm, private setting.

Symptoms you Might Notice

• Shortness of breath during exercise or when lying flat
• Chest pain or tightness, especially with exertion
• Palpitations or a rapid, pounding heartbeat
• Light-headedness or fainting, particularly after activity
• Unexplained tiredness or reduced exercise capacity
• Swollen ankles or abdomen in advanced cases

Many people feel no symptoms until a routine scan or family screening detects the condition.

Potential complications — why early diagnosis matters

• Embolic stroke: clots forming in a fibrillating left atrium can travel to the brain. Anticoagulation is advised if atrial fibrillation develops.
• Sudden cardiac death: fast, chaotic ventricular rhythms (VT/VF) may strike without warning, especially in younger adults with pronounced wall thickening or a family history.
• Heart failure: a stiff ventricle raises filling pressures, causing breathlessness, swelling and fatigue.
• End-stage (dilated) HCM: in a small minority the heart muscle eventually thins and weakens, sometimes requiring transplant consideration.
• Mitral-valve regurgitation: turbulent flow can cause back-leak, compounding breathlessness.
• Infective endocarditis: turbulent jets slightly increase lifetime valve-infection risk, so excellent dental hygiene and prompt treatment of infection are essential.

Key Causes & Risk Factors

• Genetic variants in sarcomere-protein genes (autosomal-dominant inheritance)
• Family history of HCM or sudden cardiac death under 40 years
• Under-diagnosis in women due to historical sizing criteria
• Hypertension or obesity, which can exaggerate wall thickening
• Intensive athletic training, which may mimic or unmask HCM

When to Seek Urgent Assessment

Call 999 or visit the nearest emergency department if you experience:

• Sudden collapse or fainting
• Severe chest pain lasting more than a few minutes
• Sustained palpitations with dizziness or breathlessness

For non-emergency concerns such as persistent breathlessness, reduced exercise tolerance or a known family mutation, phone 01296 678 800 to arrange a direct appointment.

How we diagnose and monitor HCM

Weekly multidisciplinary case review brings together cardiologists, physiologists, electrophysiologists and rehabilitation specialists to tailor your plan.

Specialist cardiac consultation – detailed history, three-generation family review and physical examination.

On-site diagnostics

• ECG and 24-hour heart-rhythm monitor
• High-definition transthoracic echocardiogram to measure wall thickness and outflow-tract gradient
• CT coronary angiography to rule out co-existing coronary disease
• Cardiac MRI arranged promptly when clinically required to assess scarring and precise muscle mass.
• Genetic counselling and testing offered to patients and first-degree relatives.

Treatment Options

Lifestyle & first-line medication

• Personalised exercise advice, hydration guidance and alcohol moderation
• Beta-blockers or rate-limiting calcium-channel blockers to ease symptoms
• Anticoagulation if atrial fibrillation develops

Disease-specific drug therapy

• Mavacamten (Camzyos) – first myosin inhibitor licensed in the UK for symptomatic obstructive HCM not controlled by standard drugs.
• Aficamten – next-generation inhibitor in late-stage trials; available through research protocols.

Procedures & devices

• Alcohol septal ablation or surgical septal myectomy for persistent obstruction
• Implantable cardioverter-defibrillator (ICD) for high-risk patients
• Catheter ablation for troublesome atrial fibrillation

Cardiac rehabilitation

Our cardiac-rehabilitation team designs safe aerobic and strength programmes, monitors progress and offers psychological support for confidence and long-term heart health.

Why Choose Royal Buckinghamshire Hospital?

• Same-week access to experienced cardiology specialists
• Comprehensive on-site diagnostics – ECG, echo, CT and telemetry in one visit
• State-of-the-art therapies including mavacamten and advanced arrhythmia management
• Private ensuite rooms in a heritage building with modern critical-care capability
• Easy road and rail links from Oxford, Milton Keynes and London, with free parking

Frequently Asked Questions

Is every case inherited? Around two-thirds of HCM cases have an identifiable gene mutation. Even without a known variant, first-degree relatives should still be screened.

Can I keep exercising? Yes, but intense competitive sport may need modification. Our physiologists create programmes that balance fitness with safety.

Is HCM curable? The condition is lifelong, yet modern medicines such as mavacamten and targeted procedures can normalise daily life for many patients and reduce sudden-death risk.

Call 01296 678 800 or enquire online to book an appointment or discuss your needs.