Hypertrophic Cardiomyopathy- Understanding Causes, Symptoms & Treatment

Cardiology | by Dr. Shuvo Dutta | Published on 18/01/2024

Introduction

Do you feel chest pain, shortness of breath, or irregular heart rhythms? Well, these symptoms should not be overlooked in any way as they might indicate hypertrophic cardiomyopathy. In this condition, the heart muscle in the left ventricle thickens unusually. This condition can be caused by different factors like age, genetic mutations, high blood pressure, hormonal influence, etc. It is among the rare conditions, but once is diagnosed, it must not be left untreated as it can pose serious complications.

If you suspect that you might have this condition, book your appointment with highly professional cardiology experts in Kolkata at the BM Birla Heart Research Center. You will discover the right diagnosis and treatment options.

In this blog, for your enhanced comprehension, we will involve a discussion on hypertrophic cardiomyopathy, its causes, symptoms, and treatment options. Please be aware, though, that this article is meant only for informative purposes, and we do not advocate skipping the cardiology doctor's consultation in any way.

What is Hypertrophic Cardiomyopathy?

A genetic heart condition called hypertrophic cardiomyopathy (HCM) is determined by unusual thickening of the heart muscle, specifically the left ventricle. This thickening leads to stiffness affecting how well the heart pumps blood. Particularly in young athletes, HCM raises the risk of arrhythmias and abrupt cardiac arrest. However, they can vary, some symptoms are fainting, shortness of breath, and chest pain.

Hypertrophic cardiomyopathy (HCM) is not a very common condition and affects 1 in 500 persons globally. Nonetheless, it is the most prevalent hereditary cardiac disorder, and several groups may have varied prevalence rates. Since HCM is usually inherited, initial diagnosis and genetic screening are vital.

What are Hypertrophic Cardiomyopathy symptoms?

Hypertrophic cardiomyopathy symptoms might vary depending on person to person. Here are some of the common symptoms of this condition:

• Discomfort or pain in the chest 
• Experiencing issues while breathing, especially during exertion or when lying down.
• Feeling extremely tired or lacking energy.
• Episodes of passing out, are usually linked to inappropriate blood flow.
• Irregular heartbeats or a rapid, pounding sensation.
• Feeling lightheaded or dizzy, probably causing fainting.
• Fluid retention that leads to swollen ankles, feet, or abdomen.

What are Hypertrophic Cardiomyopathy causes?

Several probable causes are there for hypertrophic cardiomyopathy. Here are some of them: 

• Genetic Mutations: Genes determining the shape of the heart muscle are mutated in the majority of cases.
• Inherited Risk: There is a 50% risk that children will be born with hypertrophic cardiomyopathy as the disorder usually runs in families.
• Spontaneous Mutations: People may occasionally acquire HCM without a family history due to spontaneous genetic alterations.
• Age: Symptoms can appear at any age, and they may get worse with time.
• Hormonal Influence: For example, hormonal changes may cause or exacerbate the illness during puberty.
• High Blood Pressure: Hypertrophic cardiomyopathy may develop or worsen as a result of unchecked hypertension.

How is Hypertrophic Cardiomyopathy diagnosed?

To diagnose hypertrophic cardiomyopathy, the healthcare professional first begins with evaluating the patient’s overall health, learning about the symptoms, and medical history of the patient. Depending on the assessment, here are the following tests that are ordered to confirm the diagnosis: 

• Medical History: It involves having a thorough conversation with the patient to identify if there is a family history of heart problems or symptoms.

• Physical Examination: A comprehensive evaluation by a medical expert identifying the symptoms such as irregular heartbeats or murmurs.
• ECG: The electrocardiogram, sometimes known as the ECG, is a diagnostic tool used to determine unusual patterns in cardiac activity indicating hypertrophic cardiomyopathy.
• Echocardiogram: It helps in creating images of the heart with the use of sound waves, offering comprehensive details on the anatomy and physiology of the organ.
• MRI (Magnetic Resonance Imaging): It offers a thorough picture of the anatomy of the heart and helps identify hypertrophy.
• Genetic testing: This is vital for familial cases as it determines specific genetic mutations linked to hypertrophic cardiomyopathy.
• The Holter Monitor is a useful tool for capturing irregularities not visible during a short-term ECG because it records continuous heart activity for 24-48 hours.
• Cardiac catheterization is an invasive procedure used to assess blood flow and measure pressure inside the heart chambers.
• Blood tests: Assess the amounts of specific proteins and enzymes linked to heart function, providing additional diagnostic information.
• Exercise Stress Test: This test looks for anomalies pointing to hypertrophic cardiomyopathy by monitoring the heart's reaction to physical activity.

What are the options available for Hypertrophic Cardiomyopathy treatment?

Depending on the symptoms of the patient and medical history, here are some of the options that are taken into account for hypertrophic cardiomyopathy treatment: 

• Medication Management: For the management of symptoms like lower heart rate, and control of blood pressure, doctors prescribe beta-blockers or calcium channel blockers.
• Septal myectomy: It involves surgically removing a portion of the thickened heart muscle to increase blood flow and relieve blockage.
• Alcohol Septal Ablation: A minimally invasive procedure, it is an alcohol injection into a targeted artery that causes controlled damage and reduces hypertrophy. 
• Implanted cardioverter-defibrillator (ICD): It is intended to deliver shocks to restore normal cardiac rhythm, ICDs are recommended for individuals who may experience probable fatal arrhythmias.
• Medication: For the treatment of irregular heartbeats, doctors prescribe anti-arrhythmic medications.
• Heart Transplant: If other options are not working well for a severe case, transplantation may be recommended as an option.
• Lifestyle Changes: Symptoms management and enhancing general cardiac health can be achieved with regular exercise, a heart-healthy diet, and refraining from excessive alcohol.
• Frequent monitoring and follow-up: To ensure the best possible management of hypertrophic cardiomyopathy, the treatment plan must be continuously evaluated and adjusted.

Conclusion

In conclusion, the management of hypertrophic cardiomyopathy requires a personalized strategy that involves medication, surgical procedures, and lifestyle modifications. A comprehensive medical assessment, including genetic testing, is vital for immediate diagnosis. Regular monitoring and follow-up are important, irrespective of the treatment plan chosen like medication, alcohol septal ablation, septal myectomy, or, in the worst situations, a heart transplant. To manage life with hypertrophic cardiomyopathy and ensure the best results, it is recommended to get in touch with people knowing lifestyle changes and available treatments.

FAQ -

What is the life expectancy of someone with hypertrophic cardiomyopathy?

The majority of patients with HCM have normal life expectancy and they do not experience any serious complications. 

Can hypertrophic cardiomyopathy be cured?

Yes, HCM can be cured by managing the symptoms through medications, lifestyle changes, septal myectomy, alcohol septal ablation, etc. However, in a rare or severe case, there might be a need for heart transplantation.