New drug offers hope for patients with rare genetic heart disease

More patients being recruited here for trial of treatment based on gene-editing tech

- Zhaki Abdullah

A new drug based on gene-editing technology could soon provide respite to patients suffering from a rare and potentially fatal genetic heart disease.

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a rare disease of the heart muscle that involves deformed transthyretin (TTR) proteins building up in the heart, nerves and other organs.

As a result of the protein buildup, the walls of the heart become thickened and stiff. The heart cannot then relax properly and get filled with blood, and it cannot pump it efficiently to the rest of the body.

The symptoms of ATTR-CM can be vague and may include numbness in the hands and feet, lethargy and dizziness; but left undiagnosed and not treated promptly, it could lead to heart failure and death.

The disease affects about 150 people in Singapore, but Assistant Professor Lin Weiqin – clinical director for the heart failure and cardiomyopathy programme at the National University Heart Centre, Singapore (NUHCS) – believes the number could be much higher.

This is because those affected often dismiss the symptoms – including swelling in the legs, numbness in the hands and unsteady walking – as normal consequences of ageing, Prof Lin said, noting that such symptoms can also be attributed to other conditions.

"Not many patients know about this condition, and not many doctors can diagnose this condition accurately as well," he said, noting that NUHCS first set up a registry for ATTR-CM patients in 2019.