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Cardiac Amyloidosis: Symptoms, Causes, Treatment

الداء النشواني القلبي

Quick summary

Cardiac amyloidosis occurs when abnormal proteins accumulate in the heart and impair filling and function. Identifying the protein type is essential because treatments differ substantially.

Medical disclaimer: This content is for educational purposes only and is not a substitute for consulting a qualified physician. Do not use this information for self-diagnosis or self-treatment.

What is Cardiac Amyloidosis?

Light-chain amyloidosis differs from transthyretin disease, which may be hereditary or age-related. A heart scan alone cannot always determine the type.

Related reading: Pericardial constriction as another cause of impaired filling.

Symptoms

Breathlessness, leg swelling, fatigue, palpitations or dizziness may occur. Thickened heart walls or carpal tunnel syndrome are clues, not diagnostic proof.

Causes

Abnormal plasma cells produce the proteins in light-chain disease; transthyretin is involved in other cases. Not all cardiac amyloidosis is inherited.

Risk factors

Age, pathogenic gene variants or plasma-cell disorders influence risk depending on subtype. Hereditary disease must not be assumed in every affected person.

Diagnosis

Assessment combines cardiac imaging with free light-chain and blood and urine immunofixation tests. Nuclear scans require interpretation within that workup; biopsy or genetic testing may be needed.

Treatment

Light-chain disease needs prompt hematology assessment and plasma-cell-directed treatment. Transthyretin disease uses different targeted therapies, alongside individualized fluid and rhythm management.

Complications

Heart failure, arrhythmias, conduction problems or clots may develop. Prognosis depends on protein type, disease stage and timely appropriate treatment.

Prevention

Diet alone cannot prevent protein deposits. Follow-up and genetic counseling help when hereditary disease is confirmed; relatives should not be labeled affected based on suspicion alone.

When to see a doctor

Chest pain, fainting, severe breathlessness or rapid deterioration requires emergency care. Increasing swelling or rapid weight gain warrants prompt contact with the cardiac team.

Scientific references

  1. ACC consensus on cardiac amyloidosis — American College of Cardiology
  2. Cardiac amyloidosis: diagnosis and management — American Heart Association
  3. Cardiac amyloidosis: treatment — Mayo Clinic