Regression of cardiac amyloid load documented by cardiovascular magnetic resonance in a patient with hereditary amyloidosis

Florian, Anca; Bietenbeck, Michael; Chatzantonis, Grigorios; Hüsing‐Kabar, Anna; Schmidt, Hartmut; Yılmaz, Ali

doi:10.1007/s00392-020-01611-2

Cited by 5 publications

(3 citation statements)

References 16 publications

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“…The respective patient had also been receiving several anti-amyloid therapies (tafamidis and inotersen) in addition to orthotopic liver transplantation. 16 These data are further supported by a recent publication from Fontana et al , 17 which shows a regression of cardiac amyloid—documented by reductions in ECV on CMR, in a proportion of patients with ATTRv cardiomyopathy receiving patisiran. Noteworthy, despite being the only CMR imaging parameter showing a significant change, the reduction in ECV was associated with a fall in NT-pro-BNP concentrations and an increase in 6MWT distances at 12 months of therapy.…”

Section: Discussionmentioning

confidence: 61%

Genome silencer therapy leading to ‘regression’ of cardiac amyloid load on cardiovascular magnetic resonance: a case report

Florian

Bietenbeck

Hüsing‐Kabar

et al. 2021

European Heart Journal - Case Reports

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Background Hereditary or variant transthyretin amyloidosis (ATTRv) is a progressive disease manifesting with neuropathy and/or cardiomyopathy. An early and accurate diagnosis of cardiac amyloidosis is a prerequisite for timely and appropriate patient management, including anti-amyloid therapies, as it is associated with heart failure, conduction disease and arrhythmias, leading to reduced quality of life and early death. Case Summary We present the case of an ATTRv male patient presenting with a mixed amyloidosis phenotype (neuropathy and cardiomyopathy). Cardiac disease manifestation comprised tachyarrhythmias (atrial fibrillation) and conduction abnormalities (AV-block) in addition to segmental left ventricular (LV) hypertrophy (septal wall) due to regionally pronounced amyloid deposits in the basal LV myocardium. Interestingly, by means of serial CMR studies, we were able to demonstrate an impressive and unexpected improvement of cardiomyopathy findings within a relatively short period-of-time after implementation of genome-silencer therapies. Discussion This is our second case report that showed ATTRv cardiomyopathy reversal under anti-amyloid therapy—documented by multiparametric CMR. Our findings support the hypothesis that amyloid infiltration leading to cardiomyopathy is not an irreversible pathological process—but rather a dynamic one, that cannot only be stopped but even reversed (to a certain degree) by currently emerging anti-amyloid therapies. Moreover, the role of serial multi-parametric CMR imaging for surveillance of cardiomyopathy dynamics under these therapies is nicely illustrated.

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Section: Discussionmentioning

confidence: 61%

Genome silencer therapy leading to ‘regression’ of cardiac amyloid load on cardiovascular magnetic resonance: a case report

Florian

Bietenbeck

Hüsing‐Kabar

et al. 2021

European Heart Journal - Case Reports

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“…Therefore, the current heart failure guidelines of the ESC recommend a CMR study for tissue characterization in patients with heart failure symptoms (I/C) [ 53 ]. Moreover, CMR is expected to play a central future role regarding non-invasive therapy monitoring in patients with cardiac amyloidosis receiving specific therapies [ 72 , 73 ] due to its unique capabilities regarding non-invasive myocardial tissue characterization including depiction and quantification of amyloid load.…”

Section: Diagnostic Assessments For Cardiac Amyloidosismentioning

confidence: 99%

Diagnosis and treatment of cardiac amyloidosis: position statement of the German Cardiac Society (DGK)

et al. 2021

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Systemic forms of amyloidosis affecting the heart are mostly light-chain (AL) and transthyretin (ATTR) amyloidoses. The latter is caused by deposition of misfolded transthyretin, either in wild-type (ATTRwt) or mutant (ATTRv) conformation. For diagnostics, specific serum biomarkers and modern non-invasive imaging techniques, such as cardiovascular magnetic resonance imaging (CMR) and scintigraphic methods, are available today. These imaging techniques do not only complement conventional echocardiography, but also allow for accurate assessment of the extent of cardiac involvement, in addition to diagnosing cardiac amyloidosis. Endomyocardial biopsy still plays a major role in the histopathological diagnosis and subtyping of cardiac amyloidosis. The main objective of the diagnostic algorithm outlined in this position statement is to detect cardiac amyloidosis as reliably and early as possible, to accurately determine its extent, and to reliably identify the underlying subtype of amyloidosis, thereby enabling subsequent targeted treatment.

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“…The heart, kidneys, gastrointestinal tract and nervous system are frequently impaired, and without treatment, the disease can lead to a loss of function and mortality [ 4 ]. The prognosis remains poor, especially in patients with cardiac involvement [ 5 ]; however, an early diagnosis is of fundamental importance, since an appropriate therapy can, depending on the amyloidosis type, reduce or reverse its progress [ 6 , 7 ].…”

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confidence: 99%

Renal AA amyloidosis leading to early diagnosis and treatment of takayasu arteritis: a case report and review of the literature

2020

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Regression of cardiac amyloid load documented by cardiovascular magnetic resonance in a patient with hereditary amyloidosis

Cited by 5 publications

References 16 publications

Genome silencer therapy leading to ‘regression’ of cardiac amyloid load on cardiovascular magnetic resonance: a case report

Genome silencer therapy leading to ‘regression’ of cardiac amyloid load on cardiovascular magnetic resonance: a case report

Diagnosis and treatment of cardiac amyloidosis: position statement of the German Cardiac Society (DGK)

Renal AA amyloidosis leading to early diagnosis and treatment of takayasu arteritis: a case report and review of the literature

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