What is cardiomyopathy?

Cardiomyopathy is a term used to describe a disease of the heart muscle. The name means CARDIO - heart, MYO - muscle, PATHY - disease.

While the exact number of individuals with cardiomyopathy in Australia is currently unknown, it is estimated that the condition affects approximately 1 in 500 people. Recent studies suggest the prevalence could be as high as 1 in 250. 

The main types of cardiomyopathy are:

• Dilated: The most common form characterised by an enlarged heart
• Hypertrophic: Thickened heart muscle
• Arrhythmogenic right ventricular: Associated with arrhythmias
• Restrictive: The least common form, involving a stiff heart
• Ischaemic: Resulting from reduced blood flow due to coronary artery disease
• Takotsubo: Often triggered by stressful events, also known as 'broken heart syndrome'
• Left ventricular noncompaction: Spongy texture of the walls of the left ventricle
• Peripartum: Occurs during or shortly after pregnancy
• Infiltrative: Caused by the buildup of abnormal substances in the heart muscle, such as amyloidosis and sarcoidosis

Common symptoms of cardiomyopathies include:

• Shortness of Breath: Difficulty breathing, especially during exertion or lying flat
• Fatigue: Persistent tiredness and lack of energy
• Swelling: Edema, particularly in legs, ankles and feet
• Chest Pain: Discomfort of pain in the chest, which may mimic angina
• Palpitations: Sensations of rapid, fluttering or pounding heartbeats
• Dizziness/Light-headedness: Feeling faint (presyncope) or actually fainting (syncope)
• Cough: Persistent cough, especially when lying down
• Reduced ability to exercise: Decreased stamina and endurance
• Heart Murmurs: Abnormal heart sounds detectable with a stethoscope

These symptoms are often indicative of heart failure and can vary in severity depending on the type and progression of the cardiomyopathy.

Cardiomyopathy can not be completely reversed or cured but effective treatments are available. The focus of treatment is on managing symptoms, improving quality of life, and preventing complications. Management options include medications, lifestyle changes, pacemakers, implantable defibrillators, cardiac resynchronization therapy, and in some cases, surgery.

Surgical options may include septal myectomy, myomectomy, endocardial resection, cardiac ablation, and in advanced cases, heart transplantation. For patients with end-stage disease where other treatments have been exhausted heart transplantation may be considered.

The availability of donor hearts and the patient's eligibility for transplantation significantly impact whether this is an option. It is not common for all patients but is a crucial option for those who do not respond to conventional therapies and have severe symptoms. Post-transplantation survival rates have improved over the years with many patients experiencing a significant improvement in quality of life and long-term outcomes. 

It is important to note that although the condition varies in severity, the majority of those diagnosed can lead a relatively normal life. 

Depending on the type of cardiomyopathy diagnosed, doctors may request details of any family history of heart disease, including instances of sudden death. Screening for other family members may be recommended, even if they experience no symptoms.

In the case of hypertrophic cardiomyopathy, there is a 50% chance of inheriting the condition from a parent. Upon diagnosis, it is always recommended to screen close relatives. The severity of the condition in affected individuals is unpredictable, therefore it is important for children in the family to undergo regular screening. 

If you are experiencing symptoms of cardiomyopathy but have not yet been diagnosed, consider taking the following steps.

1. See a doctor: Schedule an appointment with your GP or cardiologist
2. Describe your symptoms: Explain your symptoms including when they started and how often they occur
3. Provide Medical History: Share your medical history including any family history of heart disease
4. Follow recommendations: Follow your doctors recommendations for diagnostic tests
5. Lifestyle Changes: Adopt heart-healthy lifestyle changes such as eating a balanced diet and engaging in physical activity within your body's limitations and under your doctors guidance
6. Monitor symptoms: Keep track of your symptoms and report changes to your GP or cardiologist

Early diagnosis and treatment can significantly improve outcomes and quality of life for those with cardiomyopathy. 

If you have been diagnosed, consider the following steps

1. Understand your diagnosis: Learn about your specific type of cardiomyopathy and what it means for your health. Ask your doctor questions to ensure you understand your condition. You can also research on trusted health sites Healthline, Mayo Clinic, Cleveland Clinic, and Health Direct
2. Follow and communicate about your treatment plan: Adhere to your treatment plan prescribed by your provider, but promptly inform them of any adverse reactions or concerns. Seek medical assistance before making changes to your medication. 
3. Adopt a heart-healthy lifestyle and engage in physical activity under your doctor's guidance.
4. Attend regular checkups, often these are annual unless your symptoms worsen, then please seek further assistance with your GP or cardiologist.
5. Medications: Take medications as prescribed unless you have an adverse side effect, then seek medical assistance and guidance. 
6. Monitor your symptoms: Keep a log of any symptoms or changes in your condition. Report any new or worsening symptoms to your doctor as soon as possible.
7. Manage Stress: Practice stress-reducing techniques such as mindfulness, meditation or yoga. Managing stress can improve your overall wellbeing.
8. Educate your family: Inform your family about your condition so they can support you and understand the importance of monitoring their own heart health, especially if there is a genetic component.
9. Join a support group: Consider joining our official private Facebook group here. Sharing experiences and advice can provide emotional support and useful information.

These practical steps may help you manage your condition and assist in maintaining a good quality of life after diagnosis.