Magnetic Resonance in Transthyretin Cardiac Amyloidosis

Martinez‐Naharro, Ana; Treibel, Thomas A.; Abdel‐Gadir, Amna; Bulluck, Heerajnarain; Zumbo, Giulia; Knight, Daniel; Kotecha, Tushar; Francis, Rohin; Hutt, David F.; Rezk, Tamer; Rosmini, Stefania; Quarta, Candida Cristina; Whelan, Carol; Kellman, Peter; Gillmore, Julian D.; Moon, James; Hawkins, Philip N.; Fontana, Marianna

doi:10.1016/j.jacc.2017.05.053

Cited by 332 publications

(277 citation statements)

References 36 publications

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“…In cardiac amyloidosis, LV volumes and EF are commonly preserved, but LV wall thickness is increased [13]. In our patient population, LV mass was mostly normal, although hypertrophic LV wall was observed in 60% of the patients.…”

Section: Discussionmentioning

confidence: 80%

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Myocardial tissue characterization in patients with hereditary gelsolin (AGel) amyloidosis using novel cardiovascular magnetic resonance techniques

Lehmonen

Kaasalainen

Atula

et al. 2019

Int J Cardiovasc Imaging

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Gelsolin (AGel) amyloidosis is a hereditary condition with common neurological effects. Myocardial involvement, especially strain, T1, or extracellular volume (ECV), in this disease has not been investigated before. Local myocardial effects and possible amyloid accumulation were the targets of interest in this study. Fifty patients with AGel amyloidosis were enrolled in the study. All patients underwent cardiovascular magnetic resonance imaging, including cine imaging, T1 mapping, tagging, and late gadolinium enhancement (LGE) imaging at 1.5 T. Results for volumetry, myocardial feature-tracking strain, rotation, torsion, native T1, ECV, and LGE were investigated. The population mean native T1 values in different segments of the left ventricle (LV) varied between 1003 and 1080 ms. Myocardial mean T1 was 1031 ± 37 ms. T1 was highest in the basal plane of the LV (1055 ± 40 ms), similarly to ECV (30.0% ± 4.4%). ECV correlated with native T1 in all LV segments (p < 0.005). Basal LGE was detected in 76% of patients, and mid-ventricular LGE in 32%. LV longitudinal strain was impaired (− 17.4% ± 2.6%), significantly decreasing apical rotation (p = 0.018) and concurrently myocardial torsion (p = 0.005). LV longitudinal strain correlated with mean T1 and ECV of different LV planes (p < 0.04; basal p < 0.01). Myocardial involvement in AGel amyloidosis is significant, but the effects are local, focusing on the basal plane of the LV.

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Section: Discussionmentioning

confidence: 80%

“…Hypertrophy concentrated in the basal ventricular septum. In acquired light-chain (AL) amyloidosis, hypertrophy is often concentric, and on the other hand, prevalence of asymmetrical hypertrophy is more common in hereditary transthyretin-related amyloidosis [13]. …”

Section: Discussionmentioning

confidence: 99%

Myocardial tissue characterization in patients with hereditary gelsolin (AGel) amyloidosis using novel cardiovascular magnetic resonance techniques

Lehmonen

Kaasalainen

Atula

et al. 2019

Int J Cardiovasc Imaging

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“…15 Typically for TTR-CA is that atrial fibrillation is associated without enlargement of the left atrium. 16 LGE imaging was typical in all patients with TTR-CA. Echocardiography and cardiac MRI typically show myocardial thickening, including the interatrial septum.…”

Section: Cardiac Involvement In Attrm Amyloidosis (Ttr-ca)mentioning

confidence: 78%

“…15 SCD may occur in case of involvement of the cardiac conduction system. 16 It is well established that TTR-CA is associated with an increased mortality. 1 On cardiac MRI, subendocardial late gadolinium enhancement (LGE), another characteristic feature can be found ( Figure 1).…”

Section: Cardiac Involvement In Attrm Amyloidosis (Ttr-ca)mentioning

confidence: 99%

Hereditary transthyretin-related amyloidosis

et al. 2018

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Hereditary transthyretin(TTR)-related amyloidosis (ATTRm amyloidosis) is an endemic/non-endemic, autosomal-dominant, early-and late-onset, rare, progressive disorder, predominantly manifesting as length-dependent, small fiber dominant, axonal polyneuropathy and frequently associated with cardiac disorders and other multisystem diseases. ATTRm amyloidosis is due to variants in the TTR gene, with the substitution Val30Met as the most frequent mutation. TTR mutations lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, and formation of amyloid fibrils, which are consecutively deposited extracellularly in various tissues, such as nerves, heart, brain, eyes, intestines, kidneys, or the skin. Neuropathy may not only include large nerve fibers but also small fibers, and not only sensory and motor fibers but also autonomic fibers. Types of TTR variants, age at onset, penetrance, and clinical presentation vary between geographical areas. Suggestive of a ATTRm amyloidosis are a sensorimotor polyneuropathy, positive family history, autonomic dysfunction, cardiomyopathy, carpal tunnel syndrome, unexplained weight loss, and resistance to immunotherapy. If only sensory A-delta or C fibers are affected, small fiber neuropathy ensues. Diagnostic tests for small fiber neuropathy include determination of intraepidermal nerve fiber density, laser-evoked potentials, heat-and cold-detection thresholds, and measurement of the electrochemical skin conductance. Therapy currently relies on liver transplantation and TTR-stabilizers (tafamidis, diflunisal). K E Y W O R D Samyloid, neuropathy, small fiber, tafamidis, transplantation, transthyretin | 93 FINSTERER ET al. eyes, the gastrointestinal tract, the kidneys, and the skin. ATTRm amyloidosis is resistant to immunotherapy. Though ATTRm-related polyneuropathy or TTR-CA may occur without affection of another tissue, a variable combination of organ affection (multiorgan involvement) is the most frequent phenotype. This review aims at summarizing and discussing previous and recent findings concerning the clinical presentation, genetic background, pathogenesis, diagnosis, treatment, and outcome of ATTRm-related polyneuropathy. | ME THODSData for this review were identified by searches of MEDLINE for references of relevant articles. Search terms applied were "transthyretin," "gene," "TTR-FAP," or "mutation," combined with "neuropathy," "hereditary," "autonomic," "small fiber neuropathy," and "polyneuropathy." Results of the search were screened for potentially relevant studies by application of inclusion and exclusion criteria for the full texts of the relevant studies. Included were randomized controlled trials (RCTs), observational studies with controls, case series, and case reports. Only original articles about humans, and published between 1966 and 2018 were included. Reviews, editorials, and letters were not considered. Reference lists of retrieved studies were checked for reports of additional studies. Websites checked for additional, particularly geneti...

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“…Native T1 mapping is particularly useful in making the diagnosis of amyloidosis (high native T1)10 or Anderson‐Fabry disease (low native T1)11 without having to give gadolinium contrast. Furthermore, native T1 and postcontrast T1 can be used together to measure extracellular volume, and both native T1 and extracellular volume offer prognostic information in a number of cardiomyopathies 12, 13. However, these techniques require advanced software as well as require significant time to acquire data pre‐ and postcontrast and in multiple slices if desired.…”

Section: Introductionmentioning

confidence: 99%

Potential for Rapid and Cost‐Effective Cardiac Magnetic Resonance in the Developing (and Developed) World

Kramer

2018

JAHA

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Magnetic Resonance in Transthyretin Cardiac Amyloidosis

Abstract: Disclosures:Professor Moon has received an unrestricted research grant from GSK. He has also been paid a consultancy fee for trial design.

Cited by 332 publications

References 36 publications

Myocardial tissue characterization in patients with hereditary gelsolin (AGel) amyloidosis using novel cardiovascular magnetic resonance techniques

Myocardial tissue characterization in patients with hereditary gelsolin (AGel) amyloidosis using novel cardiovascular magnetic resonance techniques

Hereditary transthyretin-related amyloidosis

Potential for Rapid and Cost‐Effective Cardiac Magnetic Resonance in the Developing (and Developed) World

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