Familial cardiac amyloidoses

Abstract

Amyloid heart disease is one of the most frequent types of cardiomyopathy with restrictive pathophysiology. The familial amyloidoses constitute an extremely heterogeneous group of diseases. The form linked to transthyretin (TTR) mutations is by far the most common variety of familial amyloidosis. The clinical picture is non-specific with progressive chronic heart failure. A definitive diagnosis can readily be made from cardiac histopathology with evidence of amyloid deposits in other tissues. However, amyloid heart disease remains underdiagnosed. Advances in cardiac imaging have resulted in greater recognition of cardiac amyloidosis in everyday clinical practice, but the diagnosis continues to be made in patients with late-stage disease, suggesting that more needs to be done to improve awareness of its clinical manifestations and the potential of therapeutic intervention to improve prognosis. The electrocardiographic and echocardiographic findings are often misleading and indistinguishable from other cardiac conditions including hypertrophic cardiomyopathy and coronary artery disease. In most cases, since the clinical manifestations of systemic amyloidosis are manifold, patients may be referred to any one of a variety of specialists (especially hematologists, nephrologists and neurologists) without necessarily referred to the cardiologist. For patients with transthyretin amyloidosis, there are numerous disease modifying therapies that are currently in late-phase clinical trials.