Cardiac amyloidosis is a progressive and life-impacting heart condition caused by the abnormal buildup of amyloid fibrils—misfolded proteins that deposit in the heart muscle. Over time, these deposits make the heart stiff and less able to fill and pump blood efficiently. This is why the disease is often called “stiff heart syndrome.”
The condition can lead to heart failure, and though once considered rare and difficult to diagnose, awareness and advancements in diagnostic tools have led to earlier detection and better outcomes for many patients.
Understanding Cardiac Amyloidosis
Amyloidosis is a group of diseases in which abnormal proteins (amyloids) accumulate in tissues and organs. When this buildup occurs in the heart, it’s known as cardiac amyloidosis.
The deposits interfere with the normal elasticity and function of the heart muscle, resulting in stiffness, impaired filling, and reduced pumping capacity. This can lead to symptoms of heart failure even when the heart appears to contract normally.
Main Types of Cardiac Amyloidosis
There are two major forms of cardiac amyloidosis, each with distinct causes and treatments:
1. Transthyretin Amyloidosis (ATTR)
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Hereditary ATTR (ATTRv-CA) – Caused by mutations in the transthyretin gene, passed down through families. Symptoms often appear in midlife or later and may affect both the heart and nerves.
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Wild-type ATTR (ATTRwt-CA) – Also known as senile systemic amyloidosis, this form occurs without genetic mutation. It typically affects older men and is linked to normal aging.
2. Light Chain Amyloidosis (AL)
Other Causes of Amyloidosis
Although ATTR and AL are the most common cardiac types, other rare forms can occur:
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AA Amyloidosis: Associated with chronic inflammatory conditions (e.g., rheumatoid arthritis, chronic infections).
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Genetic Mutations: Certain inherited syndromes may cause rare forms of amyloidosis.
Common Symptoms
Cardiac amyloidosis can be tricky to recognize, as its symptoms often mimic other heart conditions. In some patients, there may be no symptoms at all in the early stages.
Typical symptoms include:
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Fatigue and decreased exercise capacity
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Shortness of breath (especially when lying flat or exerting)
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Swelling in the legs, ankles, or abdomen
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Irregular heartbeat or palpitations
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Dizziness or lightheadedness
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Excessive urination at night (nocturia)
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Unexplained weight loss or low blood pressure
Since the disease can affect multiple organs, some people may also experience numbness, tingling, digestive issues, or changes in urine output.
Diagnosis
Diagnosing cardiac amyloidosis requires a high degree of suspicion and specialized testing. Key diagnostic steps include:
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Echocardiography (Echo): May reveal thickened heart walls with a distinctive “sparkling” appearance.
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Cardiac MRI: Provides detailed images showing amyloid infiltration.
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Technetium Pyrophosphate (PYP) Scan: A noninvasive nuclear scan used specifically to confirm ATTR amyloidosis.
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Blood and Urine Tests: Help detect abnormal light chains for diagnosing AL amyloidosis.
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Biopsy: In some cases, tissue samples (from heart, fat, or bone marrow) are analyzed to confirm the type of amyloid protein.
Modern imaging techniques have made it possible to diagnose ATTR without a biopsy in many cases.
Treatment and Management
Treatment depends on the type of amyloidosis and the severity of heart involvement.
For ATTR Amyloidosis:
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Tafamidis: A medication that stabilizes the transthyretin protein and prevents it from misfolding.
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Patisiran and Inotersen: RNA-based therapies that reduce the production of faulty transthyretin in hereditary cases.
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Supportive therapy: Managing heart failure symptoms with diuretics and lifestyle adjustments.
For AL Amyloidosis:
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Chemotherapy or targeted therapy: Used to suppress abnormal plasma cells in the bone marrow.
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Stem cell transplant: May be an option for eligible patients.
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Supportive cardiac care: Helps control fluid buildup and improve quality of life.
Prognosis and Outlook
Cardiac amyloidosis used to be considered fatal within a few years of diagnosis, but modern medicine has significantly changed that picture. Early detection, improved imaging, and targeted therapies have extended survival and enhanced quality of life for many patients.
Regular follow-ups with cardiologists and hematologists, along with lifestyle changes such as a low-sodium diet, gentle exercise, and fluid management, can make a major difference.
Conclusion
Cardiac amyloidosis may still be underdiagnosed, but awareness is growing fast. If you or someone you know experiences unexplained heart failure symptoms, particularly in later life, it’s worth asking a cardiologist about amyloidosis testing.
Early diagnosis and specialized treatment can slow progression, protect the heart, and offer hope for a better future.
For Enquiries: supportteam@pencis.
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