Current state of cardiac amyloidosis

Cardiac amyloidosis, an infiltrative restrictive cardiomyopathy once thought to be universally fatal, is now increasingly recognized as less rare than previously thought. This update is intended to provide a review of newer aspects of the presentation, diagnosis and treatment of cardiac amyloidosis.

Amyloid involvement of the heart is increasingly seen, especially in the elderly population. Recent data suggest life expectancy has increased from 6 to 16-20 months in the most common subtype, AL amyloid. The clinical presentation is typically one of heart failure in the setting of normal or low normal ejection fraction, inappropriate ventricular hypertrophy and atrial enlargement with or without atrial fibrillation. Diagnosis is now most often made by cardiac MRI, with 2D echocardiography serving more of a screening role in patients with heart failure or a similar family history. The gold standard diagnostic test is right-ventricular biopsy, which demonstrates positivity for Congo Red staining. Due to a propensity for disease progression, typically low systemic blood pressure, frequent extra-cardiac involvement and autonomic dysfunction, cardiac amyloidosis is difficult to treat due to poor tolerance of most cardiovascular medication and poor outcome for transplantation. Newer therapies such as bortezomib, usually given to patients with multiple myeloma and serum light chains, are promising in controlling amyloidosis.

Recent advances in diagnosis and treatment of amyloid are associated with improved prognosis. Newer therapies offer future benefits.