From Misfolded Amyloid Monomers to Heart Failure

// What is ATTR-CM?

A progressive cardiomyopathy is profoundly changing the course of a patient's life

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive, infiltrative disease caused by the deposition of amyloid fibrils in the myocardium, leading to heart failure.

ATTR-CM:

• Significantly impairs quality of life 
• Significantly increases likelihood of cardiovascular-related hospitalisations
• May lead to premature death
   

Advances in diagnostic tools, including non-invasive imaging modalities such as bone scintigraphy and cardiac magnetic resonance imaging (CMR), have improved early identification of both variant (ATTRv-CM) and wild-type (ATTRwt-CM) forms of the disease. Emerging treatments like transthretin (TTR) stabilisers have shown to slow or halt disease progression.

Recognising the unique features of ATTR‑CM subtypes​

There are two subtypes of ATTR-CM:

• Wild-type ATTR-CM, this sporadic, non-inherited form is the most prevalent, typically manifesting later in life with a median survival without treatment of 3 to 5 years
• Hereditary ATTR-CM (variant ATTR-CM or ATTRv-CM), this form can present much earlier and is caused by various point mutations in the TTR gene, following an autosomal dominant inheritance pattern. ATTRv-CM has variable penetrance, which means that not everyone who inherits the gene will show symptoms. It also presents with diverse clinical phenotypes and prognoses, indicating that the symptoms and outcomes can vary widely among affected individuals

^{* In a study of 879 people with ATTR-CM.}