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Right heart failure tends to dominate over left heart failure
Pulmonary hypertension is present
Amyloidosis is the most common cause
Echocardiography is key to diagnosis
MRI and cardiac catheterization are helpful
Radionuclide imaging or myocardial biopsy can confirm amyloid
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Symptoms may include angina, syncope, stroke and peripheral neuropathy
Characterized by impaired diastolic filling with reasonably preserved contractile function
In Africa, endomyocardial fibrosis is seen
Other causes of restrictive cardiomyopathy
Infiltrative cardiomyopathies (eg, hemochromatosis, sarcoidosis)
Connective tissue diseases (eg, scleroderma)
Restrictive cardiomyopathy must be distinguished from constrictive pericarditis
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ECG
Echocardiogram reveals
A small thickened LV with bright myocardium (speckled)
Rapid early diastolic filling revealed by the mitral inflow Doppler
Biatrial enlargement
LV chamber size is usually normal with a reduced LVEF
Atrial septal thickening
Technetium pyrophosphate imaging (bone scan imaging)
With typical scintigraphic findings in patients without a monoclonal gammopathy, biopsy is no longer necessary for diagnosis
Cardiac MRI presents a distinctive pattern of diffuse hyperenhancement of the gadolinium image in amyloidosis
Rectal, abdominal fat, or gingival biopsies can confirm systemic involvement
Endomyocardial biopsy is required to confirm that cardiac amyloid is present
Mass spectroscopy is recommended on all tissue in question
TTR gene sequencing is recommended in patients in whom the TTR wild type or TTR mutant variant is suspected
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Tafamidis
Diuretics can help, but excessive diuresis can produce worsening kidney dysfunction
Loop diuretics, thiazides, and aldosterone antagonists are all useful
Ultrafiltration devices allow for improved diuresis
Beta-blockers help slow heart rates and improve filling
Corticosteroids
In amyloidosis, treatment depends on the type of amyloid protein and extent of disease
First-line treatment for AL amyloidosis includes alkylator-based chemotherapy or high-dose melphalan followed by autologous stem cell transplantation
In familial amyloidosis with transthyretin deposition, liver transplantation may be an option
Cardiac transplantation has been used in primary cardiac amyloidosis and no evidence for systemic involvement