Cardiac amyloidosis: the heart of the matter

Abstract

Amyloidosis comprises a unique group of diseases that share in common the extracellular deposition of insoluble fibrillar proteins in organs and tissue including the heart. Cardiac amyloidosis could be primary a part of systemic acquired amyloidosis, or a result of heredofamilial amyloidosis. Although the infiltration of the heart from different types of amyloid results in restrictive cardiomyopathy that manifests with refractory congestive heart failure and conduction abnormalities, unequivocal identification of the deposited amyloidogenic protein is mandatory in order to avoid misdiagnosis and inappropriate treatment. Recent developments in imaging techniques and extracardiac tissue biopsy have minimized the need for invasive endomyocardial biopsy for amyloidosis. Despite advances in treatment, the prognosis of a patient with amyloidosis is still poor and depends upon the underlying disease, and the type and degree of dysfunction of the involved organs. Thus, early diagnosis is mandatory because patients with advanced disease are usually too ill for intensive therapy. This review outlines current approaches to diagnosis, assessment of disease severity, and treatment of cardiac amyloidosis.

Different NT-proBNP circulating levels for different types of cardiac amyloidosis

“…[1][2][3] Three main types of amyloidosis are able to induce clinically relevant cardiac involvement: lightchain systemic amyloidosis in which the amyloid fibrils came from circulating monoclonal immunoglobulin light chains; senile systemic amyloidosis, which is a common age-related form with cardiac accumulation of wild-type transthyretin [wild-type transthyretin-related amyloidosis (ATTRwt)], a transport protein mainly synthesized by the liver; and hereditary, TTR-related form [mutated transthyretin-related amyloidosis (ATTRm)], which can be caused by more than 100 mutations of transthyretin (TTR). ATTRm is generally considered as a neurological disease, but it is phenotypically heterogeneous and the clinical spectrum of the disease varies widely from an almost exclusive neurologic involvement within a clearly familial context also termed familial amyloidotic polyneuropathy, to apparently sporadic cases with a cardiac presentation with mild or absent neuropathy (Thr60Ala, Leu111Met, Ile68Leu, and Val122Ile mutations).…”

A man with easy bruising, heart failure, and organomegaly

“…The kidney is the most common organ involved by systemic amyloidosis, resulting in nephrotic‐range proteinuria and azotemia manifesting hypoalbuminemia, secondary hypercholesterolemia, peripheral edema, and occasionally azotemia without proteinuria . Cardiac amyloidosis is also common, with restrictive cardiomyopathy manifesting with refractory congestive heart failure and conduction abnormalities . Cardiac magnetic resonance imaging (MRI) and extracardiac tissue biopsy have minimized the need for invasive endomyocardial biopsy for amyloidosis .…”

“…Cardiac amyloidosis is also common, with restrictive cardiomyopathy manifesting with refractory congestive heart failure and conduction abnormalities . Cardiac magnetic resonance imaging (MRI) and extracardiac tissue biopsy have minimized the need for invasive endomyocardial biopsy for amyloidosis . Cutaneous manifestations are seen in 40% of systemic amyloidosis patients, most commonly those with AL amyloidosis .…”

Širdies Al Amiloidozė: Klinikinio Atvejo Aprašymas

“…atvejų [11,13]. Kiti požymiai: riešo kanalo sindromas, periferinė ir autonominė neuropatija, Cutis laxa, svorio mažėjimas, žarnyno peristaltikos sutrikimai, nuovargis ir bendras silpnumas yra tipiniai, tačiau nespecifiniai ligos simptomai [10,11,14,15]. ŠA, atsirandanti dėl intersticinės amiloido infiltracijos, lemia infiltracinės KMP ir diastolinės disfunkcijos išsivystymą.…”

“…Širdies ritmo sutrikimai (dažniausiai -prieširdžių virpėjimas (PV), amiloido kaupimasis antinksčiuose, hipovolemija lemia sinkopių atsiradimą. PV metu širdies kamerose formuojasi embolai, todėl išeminis insultas, išsivystęs dėl kardioembolinių priežasčių, gali būti pirmasis širdies amiloidozės klinikinis pasireiškimas [11,18,14]. Amiloido atsidėjimas smulkiose vainikinėse kraujagyslėse gali sutrikdyti miokardo kraujotaką, kas retais atvejais pasireiškia angininiu krūtinės skausmu [10,11].…”