Cardiac amyloidosis

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Cardiac amyloidosis
Synonyms	Stiff heart syndrome
Pronounce	N/A
Specialty	Cardiology
Symptoms	Heart failure, arrhythmia, syncope, peripheral edema
Complications	Heart failure, sudden cardiac death
Onset	Typically in adulthood
Duration	Chronic
Types	N/A
Causes	Deposition of amyloid proteins in the heart
Risks	Family history, multiple myeloma, chronic inflammatory conditions
Diagnosis	Echocardiography, cardiac MRI, endomyocardial biopsy
Differential diagnosis	Hypertrophic cardiomyopathy, restrictive cardiomyopathy
Prevention	N/A
Treatment	Chemotherapy, heart transplant, supportive care
Medication	Tafamidis, doxycycline, diflunisal
Prognosis	Variable, depends on type and stage
Frequency	Rare
Deaths	N/A

Heart anterior exterior view

Amyloidosis with severe cardiac involvement

Cardiac amyloidosis high magnification

Cardiac Amyloidosis is a medical condition characterized by the abnormal deposition of amyloid proteins in the heart tissue, leading to progressive heart failure. It is a form of systemic amyloidosis and is classified into several types based on the protein involved.

Etiology

Cardiac amyloidosis is caused by the accumulation of insoluble amyloid fibrils in the extracellular space of the myocardium. These fibrils are derived from different precursor proteins, which determine the type of cardiac amyloidosis. The most common types are:

• AL amyloidosis: Also known as primary amyloidosis, it is caused by light chain proteins produced by abnormal plasma cells.
• ATTR amyloidosis: This type can be hereditary (ATTRm) or non-hereditary (ATTRwt). It is caused by transthyretin, a protein produced by the liver.

Clinical Presentation

Patients with cardiac amyloidosis may present with symptoms of heart failure, such as dyspnea, fatigue, and edema. Other symptoms can include arrhythmias and syncope. The disease often goes undiagnosed due to its non-specific symptoms and the rarity of the condition.

Diagnosis

Diagnosis of cardiac amyloidosis involves a combination of clinical assessment, imaging studies, and laboratory tests. Echocardiography and cardiac MRI are commonly used imaging modalities. Definitive diagnosis requires a biopsy of the affected tissue, demonstrating amyloid deposits.

Treatment

Treatment of cardiac amyloidosis is aimed at reducing the production of the amyloid protein and managing the symptoms of heart failure. This can involve chemotherapy for AL amyloidosis or liver transplantation for ATTRm amyloidosis. Supportive care, including diuretics and antiarrhythmics, is also important.

Prognosis

The prognosis of cardiac amyloidosis is generally poor, with a median survival of less than a year for untreated AL amyloidosis. However, early detection and treatment can improve survival and quality of life.

See Also

• Amyloidosis
• Heart failure
• Cardiomyopathy