Reference Materials

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a type of amyloidosisexternal link, opens in a new tab, which is a group of diseases where abnormal…

Why genetic testing is criticalGenetic testing looks for changes, sometimes called variants, in your DNA. Genetic testing is useful in many areas of medicine and…

What is transthyretin amyloid cardiomyopathy?Transthyretin (trans-thy-re-tin) amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed and potentially fatal disease of…

Gastrointestinal manifestations are common across all hereditary transthyretin amyloidosisexternal link, opens in a new tab (ATTRv) genotypes. However, they are…

– Family Health History Road Trip Program Aims to Inspire Conversations About Health History and Empower Families to Take Control of Their Health ––…

KEY POINTSTransthyretin amyloidosis typically presents with entrapment neuropathy, polyneuropathy or heart failure; some patients may experience autonomic…

Hereditary transthyretinexternal link, opens in a new tab amyloidosis is autosomal dominantexternal link, opens in a new tab and results from mutations in the…

Light-chain amyloidosis (AL) is a disease of protean manifestations due to a wide spectrum of organs that can be affected. The disorder is caused by the deposition…

What is this summary about?This is a plain language summary of an article originally published in European Journal of Human Genetics. Transthyretin amyloidosis (…

Hereditary transthyretin (ATTRv) amyloidosis is a rare and autosomal dominant disorder associated with mutations in the transthyretin gene. Patients present with…