Cardiac amyloidosis: the need for early diagnosis

Abstract

Amyloidosis is a collection of systemic diseases characterised by misfolding of previously soluble precursor proteins that become infiltrative depositions, thereby disrupting normal organ structure and function. In the heart, accumulating amyloid fibrils lead to progressive ventricular wall thickening and stiffness, resulting in diastolic dysfunction gradually progressing to a restrictive cardiomyopathy. The main types of cardiac amyloidosis are amyloid light chain (AL) amyloidosis caused by an underlying plasma cell dyscrasia, amyloid transthyretin (TTR) amyloidosis of wild-type (normal) TTR at older age (ATTRwt) and hereditary or mutant amyloid TTR (ATTRm) in which a genetic mutation leads to an unstable TTR protein.Overall survival is poor once heart failure develops, underlining the need for early referral and diagnosis. Treatment for AL amyloidosis has improved markedly over the last decades, and TTR amyloidosis gene silencers and orally available transthyretin stabilisers are ready to enter the clinical arena after recent positive outcome trials. Novel therapies aiming at fibril Electronic supplementary material The online version of this article (https://doi.

Cardiac Amyloidosis: Internist and Cardiologist Insight

“…Синдромальная терапия амилоидоза сердца [58] Необходимо с особой осторожностью назначать препараты, удлиняющие интервал QT, с тщательным мониторированием его продолжительности, в т.ч. антипсихотики (галоперидол, кветиапин, оланзапин), трициклические антидепрессанты (амитриптилин, нортриптилин, циталопрам), противорвотные средства (метоклопрамид, ондансетрон), антибиотики (ципрофлоксацин, азолы)/ It is necessary with extreme caution to prescribe drugs that prolong the QT interval with careful monitoring of its duration, incl.…”

The Structural Understanding of Transthyretin Misfolding and the Inspired Drug Approaches for the Treatment of Heart Failure Associated With Transthyretin Amyloidosis

“…The mainly amyloidal components that infiltrate in the heart causing cardiac amyloidosis are immunoglobulin light chain amyloid fibril protein (AL) and transthyretin amyloidosis (ATTR), and thus cardiac amyloidosis can be classified into AL-cardiac amyloidosis (AL-CA) and TTR-cardiac amyloidosis (ATTR-CA) ( Benson et al, 2018 ). Emerging results suggest that AL-CA is responsible for 70% of patients with cardiac amyloidosis ( Oerlemans et al, 2019 ). The population prevalence of ATTR-CA is less certain, may be responsible for 30% of HF patients with preserved ejection fraction aged 75 or older ( Maurer et al, 2017 ; Oerlemans et al, 2019 ).…”

“…Emerging results suggest that AL-CA is responsible for 70% of patients with cardiac amyloidosis ( Oerlemans et al, 2019 ). The population prevalence of ATTR-CA is less certain, may be responsible for 30% of HF patients with preserved ejection fraction aged 75 or older ( Maurer et al, 2017 ; Oerlemans et al, 2019 ). TTR is mainly synthesized in the liver and the brain choroid plexus, circulating in peripheral plasma and cerebrospinal fluid ( Fleming et al, 2009 ).…”

Role of Echocardiography in the Diagnosis of Light Chain Amyloidosis: A Case Report and Review of Literature

“…AL cardiac amyloidosis can occur as a part of the spectrum of AL amyloidosis or as an isolated organ dysfunction [ 3 ]. The prevalence of isolated cardiac amyloidosis is thought to around five percent [ 4 ]. Several advances during the past decade have had a substantial impact on the approach to diagnose, treat, and improve the prognosis of AL amyloidosis [ 4 ].…”

“…The prevalence of isolated cardiac amyloidosis is thought to around five percent [ 4 ]. Several advances during the past decade have had a substantial impact on the approach to diagnose, treat, and improve the prognosis of AL amyloidosis [ 4 ]. Recently many diagnostic tools are being included in the workup such as serum free light-chain assay, cardiac magnetic resonance imaging, echocardiography, and serologic cardiac biomarkers, however, Immunohistopathology remains the gold standard in making the diagnosis of this disease [ 5 ].…”