Historically it has been thought that the majority of elderly cardiomyopathy patients diagnosed with amyloidosis, ATTR-CM, transthyretin amyloid cardiomyopathy, suffered from wild-type, a non-genetic version of the disease that most commonly affects but is not exclusive to men over seventy years of age. A study in the UK conducted from January 2010 through August 2022 was conducted to determine whether this was true. Here we summarize their fascinating findings.
Hereditary Amyloidosis: The V122I Variant
Despite the evidence that a meaningful 3-4% of the US Black population of West African ancestry likely carries the V122I genetic mutation, hereditary TTR amyloidosis remains significantly underdiagnosed and undertreated in this population. Amyloidosis can be devastating to both patients and their families. Increased awareness of the disease, availability of testing, and FDA-approved therapies are slowly beginning to shift this dynamic. However, there is still much work to be done to close the gap between diagnosed cases and the population estimated to be affected.
CRISPR/Cas9 – ATTR Clinical Trial Update
Per the National Institute of Health, “One of the most promising areas of research in recent years has been gene editing, including CRISPR/Cas9, for fixing misspellings in genes to treat or even cure many conditions.” In this piece we provide a clinical trial update for transthyretin (TTR) amyloidosis using this technology.
Heart Failure & Amyloidosis
Heart failure occurs when the heart muscle doesn’t pump blood as well as it should. Many medical conditions that damage the heart muscle can cause heart failure, such as Coronary artery disease, Heart attack, Obesity, Kidney disease, Diabetes, and Cardiomyopathy. Here we summarize how cardiac amyloidosis is associated with heart failure.