Cardiac amyloidosis is a rare but serious condition that affects the heart’s ability to function properly. It occurs when abnormal protein deposits, called amyloid fibrils, accumulate in the heart tissue, leading to stiffness, impaired contraction, and eventually heart failure. Despite its severity, cardiac amyloidosis often goes undiagnosed due to its subtle symptoms and overlap with other heart conditions.

What Is Cardiac Amyloidosis?

Amyloidosis refers to a group of diseases characterized by the buildup of amyloid proteins in organs and tissues. When these proteins deposit in the heart, it is termed cardiac amyloidosis. The amyloid deposits interfere with the normal structure and function of the heart muscle, making it less flexible and less able to pump blood efficiently.

Types of Cardiac Amyloidosis

There are several types of amyloidosis, but the two main forms that affect the heart are:

• Light Chain (AL) Amyloidosis: Caused by abnormal plasma cells producing misfolded light chains that form amyloid deposits. It is often associated with blood disorders like multiple myeloma.
• Transthyretin (ATTR) Amyloidosis: Caused by the buildup of transthyretin protein, which may be hereditary (mutated gene) or age-related (wild-type). ATTR amyloidosis is more common in older adults.

Symptoms and Signs

Symptoms of cardiac amyloidosis can be vague and resemble other heart diseases, which complicates diagnosis. Common signs include:

• Shortness of breath, especially during physical activity
• Fatigue and weakness
• Swelling in the legs, ankles, or abdomen
• Irregular heartbeat or palpitations
• Low blood pressure or dizziness
• Chest pain or discomfort

How Is Cardiac Amyloidosis Diagnosed?

Early diagnosis is crucial but challenging. Doctors use a combination of tests to detect cardiac amyloidosis:

• Electrocardiogram (ECG): May show low voltage despite thickened heart walls.
• Echocardiogram: Ultrasound to assess heart thickness and function.
• Cardiac MRI: Provides detailed images of heart tissue and amyloid deposits.
• Blood and urine tests: Identify abnormal proteins or markers.
• Biopsy: Tissue samples from the heart or other organs confirm amyloid deposits.
• Specialized nuclear imaging: Certain tracers can highlight amyloid accumulation.

Treatment Options

Treatment depends on the type of amyloidosis and disease stage. Options include:

• Medications: To manage heart failure symptoms like diuretics, beta-blockers, and ACE inhibitors.
• Targeted therapies: For AL amyloidosis, chemotherapy or stem cell transplant may reduce abnormal protein production.
• New drugs for ATTR amyloidosis: Tafamidis and other agents can stabilize transthyretin protein and slow disease progression.
• Supportive care: Lifestyle changes, dietary adjustments, and symptom management.
• Heart transplant: In advanced cases, transplantation may be considered.

Living with Cardiac Amyloidosis

Managing cardiac amyloidosis requires close collaboration with a cardiologist and often a multidisciplinary team. Monitoring symptoms and regular follow-ups are essential to adjust treatments and improve quality of life. Early detection and advances in treatment have improved outcomes significantly.

Preventive Measures and Awareness

While hereditary forms cannot be prevented, awareness of symptoms and risk factors can lead to earlier diagnosis. Individuals with a family history of amyloidosis or unexplained heart failure should consult their healthcare provider. Maintaining heart health through a balanced diet, exercise, and avoiding smoking also supports overall cardiovascular wellness.

Conclusion

Cardiac amyloidosis is a complex and potentially life-threatening condition that often goes unrecognized. Understanding its symptoms, diagnosis, and treatment options empowers patients and caregivers to seek timely medical care. Advances in therapies offer new hope, underscoring the importance of awareness and early intervention for better heart health.

Disclaimer: This article is for informational purposes only and does not substitute professional medical advice. Consult your healthcare provider for personalized diagnosis and treatment.

Disclaimer: This article is for educational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.