Deadly heart condition reversed for first time

Posted on the 23rd June 2023

A group of patients suffering from potentially deadly heart failure have seen their illness spontaneously reversed in an ‘unprecedented’ case.

Each of the three men suffered from cardiac amyloidosis – a chronic condition caused by a build-up of sticky, toxic proteins in the heart.

The degenerative illness, which can be hereditary or non-hereditary, has largely been considered irreversible, with half of those affected dying within four years of diagnosis.

A new study, published in The New England Journal of Medicine, focuses on a specific type of the condition, known as ATTR-CM, which is caused by the build-up of a blood protein called transthyretin (TTR).

Researchers from University College London (UCL) and the Royal Free Hospital examined the records of 1,663 people with the condition, after a 68-year-old patient reported that his symptoms were improving.

Two further cases of symptom reversal were then identified and confirmed through blood tests and medical imaging techniques, in men aged 78 and 82.

Heart scans showed that the dangerous build-up of amyloid proteins had cleared and that the men’s hearts were recovering from the condition.

The researchers also discovered that all three of the men had antibodies that specifically targeted the amyloid proteins. These antibodies were not identified in other sufferers, whose conditions progressed as normal.

While current treatments strive to relieve heart failure-related symptoms – such as fatigue, shortness of breath, and swelling in the legs and abdomen – they are unable to tackle the amyloid itself.

Medical professionals are now hopeful that their findings could lead to more effective treatments for the condition. UCL’s Professor Julian Gillmore is leading an investigation into a gene-editing therapy that could halt the progression of amyloidosis.

Following the study’s results, Prof Gillmore said: “Whether these antibodies caused the patients’ recovery is not conclusively proven.

“However, our data indicates that this is highly likely and there is potential for such antibodies to be recreated in a lab and used as a therapy.”

Lead author Professor Marianna Fontana, of UCL Division of Medicine, said: “We have seen for the first time that the heart can get better with this disease. “That has not been known until now and it raises the bar for what might be possible with new treatments.”