cardiac amyloidosis

Imagine wax slowly soaking into a sponge until it can no longer squeeze and spring back. In cardiac amyloidosis, abnormally folded proteins called amyloid deposit between the heart-muscle cells, thickening and stiffening the walls. The heart becomes hard to fill, and over time its pumping and electrical function suffer too. It is an important and increasingly recognised cause of restrictive cardiomyopathy and stiff-heart heart failure.

There are two main types relevant to the heart. In AL amyloidosis, a bone-marrow cell line produces abnormal antibody fragments that form amyloid; in ATTR amyloidosis, a transport protein called transthyretin misfolds — either because of an inherited mutation or simply with ageing (the wild-type form, common in older men). The type matters enormously because their treatments and outlooks differ.

Clues that raise suspicion include thick heart walls on echo but low voltages on the ECG (a mismatch), carpal tunnel syndrome years earlier, and intolerance of standard heart-failure drugs. Diagnosis now often relies on a special bone-tracer scan and blood tests rather than always needing a biopsy. The honest caveat: it was long considered untreatable, but specific therapies for ATTR have changed the picture, so accurate, early typing genuinely matters.