ATTR-CM

Detailed neurological and cardiac investigations of transthyretin gene mutation carriers are crucial for early detection and treatment of hereditary transthyretin amyloidosis, according to a new study. Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant disease caused by pathogenic transthyretin (TTR) gene variants. It mostly affects the peripheral nerves and heart. Screening and monitoring TTR gene...

Slightly compromised kinetic stability of the TTRA81V mutation in hereditary transthyretin amyloid cardiomyopathy may indicate late-onset and gradual progression of the disease, according to a recent case study. The various transthyretin (TTR) mutations in cardiac amyloidosis bear remarkably different biochemical and biophysical properties, resulting in diverse clinical manifestations. Characterizing these properties can aid in predicting...

A recent study examined how frequently the V122I genetic variant leads to heart failure in older Black individuals. This research sought to identify how specific genes can influence the development and presentation of transthyretin amyloid cardiomyopathy. Transthyretin amyloid cardiomyopathy (ATTR-CM) remains an underdiagnosed cause of heart failure among older individuals. The V122I variant, associated with...

Cardiac amyloidosis, an underdiagnosed cause of heart failure, may present with persistent symptoms even under optimal medical therapy. Early diagnosis and novel treatments may offer hope for better outcomes. Cardiac amyloidosis is a severe form of restrictive cardiomyopathy that can elude diagnosis. Persistent heart failure symptoms may be a red flag for amyloidosis in the...

A recent study evaluated the prevalence of amyloid transthyretin cardiomyopathy in elderly patients with severe aortic stenosis. The results provide insights into the potential implications for those undergoing transcatheter aortic valve implantation. Elderly patients with severe aortic stenosis may also present with amyloid transthyretin cardiomyopathy. Echocardiography and invasive hemodynamics may help detect coexisting pathologies. Concurrent...

Gender disparities exist in various aspects of ATTR-CA, a condition predominantly affecting males. Transthyretin cardiac amyloidosis (ATTR-CA) is a progressive disease characterized by abnormal transthyretin deposition in cardiac tissue. Recent research suggests that sex differences may play a significant role in the disease’s clinical manifestations, progression, and outcomes.  A study in the journal Heart Failure...

Transthyretin cardiac amyloidosis prevalence in the transcatheter aortic valve replacement population is lower than previously described, and NT-pro BNP can guide screening, according to a recent study. Transthyretin cardiac amyloidosis (ATTR-CA) prevalence in aortic stenosis patients is 5–20%, with higher rates in those who underwent transcatheter aortic valve replacement (TAVR) vs. surgical aortic valve replacement...

Tafamidis slowed cardiac remodeling and potentially lowers amyloid deposition in patients with hereditary A97S transthyretin cardiomyopathy in a recent study. Transthyretin amyloid cardiomyopathy (ATTR-CM) is a rare but life-threatening disease. Tafamidis decreases amyloid formation and is an effective treatment for ATTR-CM. There are differences in the level of cardiac involvement among disease variants. Up to...

Medically reviewed by Dr. Kimberly Langdon Cull, M.D. on Sept. 21, 2023 Extracardiac uptake occurs in 11% of Tc-99m PYP scintigraphy patients. However, actionable findings are rare, according to a recent study. Transthyretin cardiac amyloidosis (ATTR-CA) can be diagnosed with the help of technetium-labeled bone-avid radiotracers. Technetium pyrophosphate (Tc-99m PYP) extracardiac uptake in this situation has...