Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
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Wild-type transthyretin cardiac amyloidosis (ATTRwt) is an infiltrative disease leading to restrictive cardiomyopathy. We aimed to characterise exercise capacity in ATTRwt and to identify predictors of cardiopulmonary fitness, focusing on echocardiographic and clinical parameters. ⋯ In ATTRwt the TAPSE/sPAP ratio, a marker of right ventricular coupling, was an independent predictor of aerobic capacity assessed by CPET, at baseline and after 1 year, highlighting the importance of right ventricular assessment for risk stratification.
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A high incidence of valvular involvement of amyloid in the setting of aortic stenosis (AS) has been reported. Amyloid derived from ApoAI (AApoAI) can form local amyloid deposits in the aortic valve. Although a high prevalence of concomitant severe AS and cardiac transthyretin-type amyloidosis (ATTR) has been reported, the prevalence of valvular involvement by ATTR and AApoAI is unclear. ⋯ AS symptoms can manifest earlier in patients with amyloid or ATTR deposition in the aortic valve than in patients without such deposition, even though left ventricular function is preserved.
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Light-chain cardiac amyloidosis (AL-CA) is associated with structural and functional changes in the left atrium and left ventricle. This study aims to assess the value of the left atrioventricular coupling index (LACI) assessed by three-dimensional echocardiography (3DE) for predicting primary outcome in AL-CA. ⋯ 3DE-based LACI is independently associated with all-cause mortality in AL-CA patients and augments prognostic value to traditional staging models.
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Proteomics is routinely used to type clinical amyloid deposits, and offers additional benefit of identifying genetic variants, which can be diagnostically useful. Reviewing the proteomics data for ATTR patients attending our Centre revealed an unusually large number of samples containing a rare pathogenic H90D TTR variant alongside the more common H90N variant. ⋯ In the absence of genetic data, the identification of H90D TTR in stored tissue by proteomics should be treated with caution.