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Pubblicazioni recenti - cardiac amyloidosis
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Clinical presentation and prognostic analysis of Chinese patients with systemic light chain amyloidosis with liver involvement.
Leuk Res2019 Sep;86():106226. doi: S0145-2126(19)30171-7.
Zhang Le-le, Shen Kai-Ni, Zhang Cong-Li, Qiu Yu, Miao Hui-Lei, Feng Jun, Cao Xin-Xin, Zhang Lu, Zhou Dao-Bin, Li Jian,
Abstract
To summarize the clinical characteristics and prognostic factors of Chinese patients with systemic light chain amyloidosis with liver involvement. We retrospectively analyzed the clinical features and natural history data of 102 patients diagnosed with systemic light chain amyloidosis with liver involvement at Peking Union Medical College Hospital between March 2007 and May 2018. More than 95% of patients showed the involvement of other organs. Kidney and heart were the most frequently involved organs, accounting for 71.6% and 68.6% of cases, respectively. Hepatomegaly was the most frequently observed physical sign, accounting for 67.6% of cases. Elevated levels of alkaline phosphatase (ALP) and gamma-glutamyl transferase (GGT) were frequently observed, accounting for 85.3% and 88.2% of cases, respectively. A significantly better prognosis was observed in patients with normal total bilirubin levels, as compared with those with elevated levels of total bilirubin. Patients in the normal total bilirubin group showed a significantly better progression-free survival (PFS) (38 months) as compared the elevated total bilirubin group (4 months; P?
Copyright © 2019 Elsevier Ltd. All rights reserved.
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Quantitative Tc-DPD SPECT/CT in patients with suspected ATTR cardiac amyloidosis: Feasibility and correlation with visual scores.
J Nucl Cardiol2019 Sep;():. doi: 10.1007/s12350-019-01893-8.
Caobelli Federico, Braun Martin, Haaf Philip, Wild Damian, Zellweger Michael J,
Abstract
PURPOSE:
While a visual interpretation of Tc-DPD scintigraphy by means of Perugini score can provide a reliable diagnosis of transthyretin-related (ATTR) cardiac amyloidosis (CA), a quantitative approach is expected to play a major role in risk stratification and therapy evaluation. The aim of our study was to test the feasibility of a quantitative assessment and to correlate various parameters to Perugini score.
METHODS:
in this retrospective study, consecutive patients underwent a Tc-DPD whole-body bone scintigraphy and a SPECT/CT of the thorax. XSPECT-QUANT software was used to quantify the DPD uptake in the heart.
RESULTS:
Thirteen patients were included. CA was confirmed in 8 and rejected in 5. Myocardial SUVmax and SUVpeak showed a fairly strong correlation with Perugini score (both ??=?.71, P?=?.006). Same held true for to-bone normalized values (both ??=?.75, P?=?.003). There was a great degree of overlap for quantitative values in patients with Perugini score 2 and 3.
CONCLUSION:
Quantitative Tc-DPD SPECT/CT in suspected ATTR CA patients is feasible and allows for a more accurate assessment of myocardial uptake.
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Cardiac manifestations and prognostic implications of hereditary transthyretin amyloidosis associated with transthyretin Ala97Ser.
J Formos Med Assoc2019 Sep;():. doi: S0929-6646(19)30489-9.
Lai Hsing-Jung, Huang Kuan-Chih, Liang Yun-Chieh, Chien Kuo-Liong, Lee Ming-Jen, Hsieh Sung-Tsang, Chao Chi-Chao, Yang Chih-Chao,
Abstract
BACKGROUND:
The cardiac manifestations of late-onset hereditary transthyretin amyloidosis with p.A97S variant have not been extensively studied, and the prognostic factors remain unclear.
METHODS:
The clinical profile, echocardiography, and ECG of patients diagnosed with ATTR p.A97S polyneuropathy between 2000 and 2016 were retrospectively collected. 67 patients with ATTR p.A97S were collected.
RESULTS:
A total of 82% of patients met the criteria for left ventricular (LV) hypertrophy. Reduced global longitudinal strain (GLS) was noted in 42.1% of patients, and 14% of patients had a relative apical sparing pattern. A low voltage pattern in the ECG was observed in 31.3% of patients, while 64.2% presented with a pseudoinfarction pattern. End-systolic LV inner dimension (HR: 2.25 (95% CI: 1.01-5.01), p = 0.048), reduced GLS (HR: 5.26 (1.08-25.0), p = 0.039), relative apical longitudinal strain (RALS>1, HR: 8.57 (1.69-43.3), p = 0.009), increased E/A ratio (HR: 6.51 (1.17-36.4), p = 0.033), and increased QRS duration (HR: 1.02 (1.00-1.04), p = 0.05) were correlated with reduced survival in univariate analysis. Multivariate analysis revealed reduced RALS was significantly correlated with reduced survival (HR: 13.00 (1.81-93.45), p = 0.011).
CONCLUSION:
Our findings reveal that ATTR p.A97S is a cardiomyopathy as well as a polyneuropathic syndrome. Routine use of more contemporary echocardiographic techniques are recommended to identify cardiac amyloidosis and provide prognostic information.
Copyright © 2019 Formosan Medical Association. Published by Elsevier B.V. All rights reserved.
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Impact of Genetic Testing in Transthyretin (ATTR) Cardiac Amyloidosis.
Curr Heart Fail Rep2019 Sep;():. doi: 10.1007/s11897-019-00436-z.
Gopal Deepa M, Ruberg Frederick L, Siddiqi Omar K,
Abstract
PURPOSE OF REVIEW:
The review's main focus centers on the genetics of hereditary cardiac amyloidosis, highlighting the opportunities and challenges posed by the widespread availability of genetic screening and diagnostic cardiac imaging.
RECENT FINDINGS:
Advancements in cardiac imaging, heightened awareness of the ATTR amyloidosis diagnosis, and greater access to genetic testing have all led to an increased appreciation of the prevalence of ATTR cardiac amyloidosis. Elucidation of the TTR molecular structure and effect of mutations on TTR function have allowed for novel TTR therapy development leading to clinical implementation of transthyretin stabilizers and transthyretin gene silencers. The transthyretin amyloidoses are a diverse group of protein misfolding disorders with cardiac and peripheral/autonomic nervous system manifestations due to protein deposition. Genetic screening allows for the early identification of asymptomatic TTR mutation carriers. With the advent of TTR-specific therapeutics, clinical guidance is necessary for the management of individuals with mutations in the TTR gene without evidence of disease.
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Bone scintigraphy imaging of cardiac amyloidosis.
World J Nucl Med;18(3):314-316. doi: 10.4103/wjnm.WJNM_9_19.
Kuria Issa Menge, Gitau Samuel Nguku, Makhdomi Khalid Bashir,
Abstract
Transthyretin-related cardiac amyloidosis (ATTR) amyloidosis is an aggressive, rapidly progressive, and fatal disease, for which several promising therapies are in development. This condition is frequently underdiagnosed because of the limited specificity of echocardiography and the traditional requirement for histological diagnosis. It is well known that technetium-labeled bone scan radiotracers can localize in the myocardial amyloid deposits, but the use of this imaging modality to differentiate between the two subtypes has only lately been revisited. We report a case of a 76-year-old man with a clinical diagnosis of amyloidosis who underwent a bone scan that had features of ATTR amyloidosis. To the best of our knowledge, this is the first case report in Sub-Saharan Africa.
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Cardiac Devices in Patients with Transthyretin Amyloidosis: Impact on Functional Class, Left Ventricular Function, Mitral Regurgitation and Mortality.
J Cardiovasc Electrophysiol2019 Sep;():. doi: 10.1111/jce.14180.
Donnellan Eoin, Wazni Oussama, Saliba Walid, Baranowski Bryan, Hanna Mazen, Martyn Michael, Patel Divyang, Trulock Kevin, Menon Venu, Hussein Ayman, Aagaard Philip, Jaber Wael, Kanj Mohamed,
Abstract
BACKGROUND:
The aim of our study was to investigate outcomes of patients with ATTR CA and implantable devices with respect to left ventricular ejection fraction (LVEF), mitral regurgitation (MR), New York Heart Association (NYHA) functional class and mortality.
METHODS:
This was a retrospective observational cohort study of 78 patients with ATTR CA and implantable devices. During a mean follow-up of 42 months we investigated the impact of RV pacing burden and BiV pacing on LVEF, MR severity, NYHA functional class and mortality.
RESULTS:
Worsening MR occurred in 11% of patients with a RV pacing % <40% compared to 62% of those with a RV pacing burden > 40% (p=0.002). Similarly, worsening LVEF occurred in 26% of patients who were RV paced < 40% and 89% of those who were RV paced > 40% of the time (p<0.0001) and worsening in NYHA functional class occurred in 22% and 89%, respectively (p<0.0001). Improvement in LVEF, NYHA functional class and MR severity occurred in 78, 67 and 67%, respectively in those with BiV devices. Death occurred in 67% of patients in the CRT group compared to 68% of those with a RV pacing burden < 40% and 92% of those with a RV pacing burden > 40%.
CONCLUSION:
A higher RV pacing burden is associated with deleterious remodeling and congestive heart failure in patients with ATTR CA whereas BiV pacing is associated with improvements in LVEF, NYHA class and degree of MR. BiV pacing should be considered in patients with ATTR CA and an indication for pacing. However, further larger prospective studies will need to be performed. This article is protected by copyright. All rights reserved.
This article is protected by copyright. All rights reserved.
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Establishment of brain natriuretic peptide - based criteria for evaluating cardiac response to treatment in light chain (AL) amyloidosis.
Br J Haematol2019 Sep;():. doi: 10.1111/bjh.16198.
Lilleness Brian, Doros Gheorghe, Ruberg Frederick L, Sanchorawala Vaishali,
Abstract
Severity of cardiac involvement remains the leading determinant of survival in light chain (AL) amyloidosis. Until recently, cardiac response after treatment relied on reduction of N-terminal pro-brain natriuretic peptide (NT-proBNP). In this study, 94 patients with AL amyloidosis (baseline BNP ?150 pg/ml) had BNP measured at 6 months following treatment. Median overall survival was not reached for cardiac response (?50 pg/ml and ? 30% decrease in BNP), 9·2 years for cardiac stability (<50 pg/ml and <30% change in BNP) and 2·8 years for cardiac progression (?50 pg/ml or ?30% increase in BNP) (log-rank P < 0·001). Cardiac response and progression, as measured by BNP values, are significantly associated with survival in AL amyloidosis.
© 2019 British Society for Haematology and John Wiley & Sons Ltd.
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F-sodium fluoride PET/MRI myocardial imaging in patients with suspected cardiac amyloidosis.
J Nucl Cardiol2019 Sep;():. doi: 10.1007/s12350-019-01885-8.
Abulizi Mukedaisi, Sifaoui Islem, Wuliya-Gariepy Mijiti, Kharoubi Mounira, Israël Jean-Marc, Emsen Berivan, Bodez Diane, Monnet Aurélien, Didierlaurent David, Tacher Vania, Luciani Alain, Damy Thibaud, Deux Jean-François, Itti Emmanuel,
Abstract
BACKGROUND:
We evaluated the diagnostic performance of F-NaF PET/MRI in patients with suspected cardiac amyloidosis (CA).
METHODS:
Twenty-seven consecutive patients underwent myocardial PET 1 hour after injection of 4 MBq/kg F-NaF with simultaneous MRI including cine-MRI, T1 and T2 mapping, first-pass and late gadolinium enhancement (LGE). F-NaF uptake was measured visually and semi-quantitatively by calculating myocardium-to-blood pool (M/B) ratios. CA was confirmed histologically.
RESULTS:
Transthyretin (TTR)-CA was diagnosed in 16 patients, light-chain (AL)-CA in 7, and no-CA in 4. Visual interpretation of F-NaF images revealed a relative increase in myocardial uptake in only 3 patients, all with TTR CA, and a relative decrease in 13, including 7 AL CA, 3 no-CA, and 3 TTR CA. M/B ratios were significantly higher in TTR CA (1.00 ± 0.12) than in AL CA (0.81 ± 0.06, P = 0.001) or in no-CA (0.73 ± 0.16, P = 0.006). The optimal M/B cut-off to distinguish TTR CA from AL CA was ??0.90 (Fischer, P = 0.0005). By comparison, classification of patients using Tc-HMDP heart-to-mediastinum ratios with the previously published cut-off ? 1.21 reached higher significance (P < 0.0001). Among MRI parameters, myocardial T1, LGE score, and extracellular volume were higher in CA than in no-CA patients, 1409 ± 76 vs 1278 ± 35 ms (P = 0.004), 10.35 ± 5.30 vs 3.50 ± 3.42 (P = 0.03), and 46 ± 10 vs 33 ± 8 % (P = 0.01), respectively.
CONCLUSION:
F-NaF PET/MRI shows good diagnostic performance when semi-quantification is used. However, contrast is low and visual interpretation may be challenging in routine. PET/MRI could constitute a one-stop-shop evaluation of amyloid load and cardiac function in patients needing rapid work-up.
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Strategies to improve the quality of life in patients with hereditary transthyretin amyloidosis (hATTR) and autonomic neuropathy.
Clin Auton Res2019 Sep;():. doi: 10.1007/s10286-019-00624-w.
Gendre Thierry, Planté-Bordeneuve Violaine,
Abstract
PURPOSE:
Hereditary transthyretin amyloidosis (hATTR) is a severe adult-onset progressive disease mainly involving the peripheral nervous system and the heart, with a prominent impact on the autonomic nervous system. This review summarizes the clinical aspects of autonomic dysfunction in hATTR, and their impact on quality of life as well as potential therapeutic options.
METHODS:
Literature review.
RESULTS:
Autonomic dysfunction, causing neurogenic orthostatic hypotension, gastroparesis, constipation, diarrhea, bladder dysfunction, and erectile dysfunction in males, has a major impact on the quality of life of patients with hATTR. Improvement of qualify of life in patients with hATTR implies periodic symptomatic screening and early management, taking into consideration comorbidities and medication side effects. The specific effect of the disease-modifying treatment on this aspect remains to be unraveled.
CONCLUSIONS:
Management of autonomic dysfunction in patients with hAATR is feasible and can result in improved qualify of life. Novel disease-modifying treatments for hAATR may contribute to improve autonomic dysfunction, although specific studies are required.
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Association between hearing loss and hereditary ATTR amyloidosis.
Amyloid2019 Sep;():1-9. doi: 10.1080/13506129.2019.1663814.
Bartier Sophie, Bodez Diane, Kharoubi Mounira, Guellich Aziz, Canouï-Poitrine Florence, Chatelin Véronique, Coste André, Damy Thibaud, Béquignon Emilie,
Abstract
Hereditary transthyretin (TTR) related amyloidosis (ATTRv) is a life-threatening condition, which can potentially affect all organs. The objective was to identify the hearing status of patients with cardiac ATTRv and describe their audiological pattern. Nineteen patients with confirmed diagnosis of ATTRv cardiac amyloidosis (CA) underwent otoscopy and audiological tests, including pure tone and speech audiometry. 74% were male, with a mean age of 72?±?1.8?years. The main mutations were Val122Ile (?7) and Val30Met (?6). Objective hearing loss was detected in 17 patients (89%), whereas only 37% complained of hearing loss. ATTRv patients presented a different audiometric profile compared to patients of the same age with presbycusis: a higher prevalence and worse hearing thresholds compared to age-related expectations (ISO). Hearing loss affected all frequencies with, unexpectedly, mixed or conductive hearing loss (35%). According to the type of mutation, there was an increased rate of sensorineural or mixed/conductive hearing loss. the present study indicates that hearing loss is more prevalent and worse in patients with ATTRv amyloidosis than in the general population, while mostly clinically under-estimated. It suggests that ATTRv deposits could infiltrate the various anatomical structures of the inner and mild ear.
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Noninvasive Mapping of the Electrophysiological Substrate in Cardiac Amyloidosis and Its Relationship to Structural Abnormalities.
J Am Heart Assoc2019 Sep;8(18):e012097. doi: 10.1161/JAHA.119.012097.
Orini Michele, Graham Adam J, Martinez-Naharro Ana, Andrews Christopher M, de Marvao Antonio, Statton Ben, Cook Stuart A, O'Regan Declan P, Hawkins Philip N, Rudy Yoram, Fontana Marianna, Lambiase Pier D,
Abstract
Background The relationship between structural pathology and electrophysiological substrate in cardiac amyloidosis is unclear. Differences between light-chain (AL) and transthyretin (ATTR) cardiac amyloidosis may have prognostic implications. Methods and Results ECG imaging and cardiac magnetic resonance studies were conducted in 21 cardiac amyloidosis patients (11 AL and 10 ATTR). Healthy volunteers were included as controls. With respect to ATTR, AL patients had lower amyloid volume (51.0/37.7 versus 73.7/16.4 mL, P=0.04), lower myocardial cell volume (42.6/19.1 versus 58.5/17.2 mL, P=0.021), and higher T1 (1172/64 versus 1109/80 ms, P=0.022) and T2 (53.4/2.9 versus 50.0/3.1 ms, P=0.003). ECG imaging revealed differences between cardiac amyloidosis and control patients in virtually all conduction-repolarization parameters. With respect to ATTR, AL patients had lower epicardial signal amplitude (1.07/0.46 versus 1.83/1.26 mV, P=0.026), greater epicardial signal fractionation (P=0.019), and slightly higher dispersion of repolarization (187.6/65 versus 158.3/40 ms, P=0.062). No significant difference between AL and ATTR patients was found using the standard 12-lead ECG. T1 correlated with epicardial signal amplitude (cc=-0.78), and extracellular volume with epicardial signal fractionation (cc=0.48) and repolarization time (cc=0.43). Univariate models based on single features from both cardiac magnetic resonance and ECG imaging classified AL and ATTR patients with an accuracy of 70% to 80%. Conclusions In this exploratory study cardiac amyloidosis was associated with ventricular conduction and repolarization abnormalities, which were more pronounced in AL than in ATTR. Combined ECG imaging-cardiac magnetic resonance analysis supports the hypothesis that additional mechanisms beyond infiltration may contribute to myocardial damage in AL amyloidosis. Further studies are needed to assess the clinical impact of this approach.
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Diagnostic performance of imaging investigations in detecting and differentiating cardiac amyloidosis: a systematic review and meta-analysis.
ESC Heart Fail2019 Sep;():. doi: 10.1002/ehf2.12511.
Brownrigg Jack, Lorenzini Massimiliano, Lumley Matthew, Elliott Perry,
Abstract
AIMS:
The study aims to systematically assess the diagnostic performance of cardiac magnetic resonance (CMR) and nuclear scintigraphy (index tests) for the diagnosis and differentiation of subtypes of cardiac amyloidosis.
METHODS AND RESULTS:
MEDLINE and Embase electronic databases were searched for studies evaluating the diagnostic performance of CMR or nuclear scintigraphy in detecting cardiac amyloidosis and subsequently in differentiating transthyretin amyloidosis (ATTR) from immunoglobulin light-chain (AL) amyloidosis. In this meta-analysis, histopathological examination of tissue from endomyocardial biopsy (EMB) or extra-cardiac organs were reference standards. Pooled sensitivity, specificity, positive likelihood ratio, and negative likelihood ratio were calculated, and a random effects meta-analysis was used to estimate diagnostic odds ratios. Methodological quality was assessed using a validated instrument. Of the 2947 studies identified, 27 met the criteria for inclusion. Sensitivity and specificity of CMR in diagnosing cardiac amyloidosis was 85.7% and 92.0% against EMB reference and 78.9% and 93.9% with any organ histology reference. Corresponding sensitivity and specificity of nuclear scintigraphy was 88.4% and 87.2% against EMB reference and 82.0% and 98.8% with histology from any organ. CMR was unable to reliably differentiate ATTR from AL amyloidosis (sensitivity 28.1-99.0% and specificity 11.0-60.0%). Sensitivity and specificity of nuclear scintigraphy in the differentiation of ATTR from AL amyloidosis ranged from 90.9% to 91.5% and from 88.6% to 97.1%. Pooled negative likelihood ratio and positive likelihood ratio for scintigraphy in this setting were 0.1 and 8, with EMB reference standard. Study quality assessed by QUADAS-2 was generally poor with evidence of bias.
CONCLUSIONS:
Cardiac magnetic resonance is a useful test for diagnosing cardiac amyloidosis but is not reliable in further classifying the disease. Nuclear scintigraphy offers strong diagnostic performance in both the detection of cardiac amyloidosis and differentiating ATTR from AL amyloidosis. Our findings support the use of both imaging modalities in a non-invasive diagnostic algorithm that also tests for the presence of monoclonal protein.
© 2019 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of the European Society of Cardiology.
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Daratumumab for Relapsed or Refractory AL Amyloidosis with high Plasma Cell Burden.
Hematol Oncol2019 Sep;():. doi: 10.1002/hon.2677.
Schwotzer Rahel, Manz Markus Gabriel, Pederiva Stefanie, Waibel Christine, Caspar Clemens, Lerch Erika, Flammer Andreas, Brouwers Sofie, Seeger Harald, Heimgartner Raphael, Fehr Thomas, Rossi Davide, Bianchi Elena, Stussi Georg, Ghilardi Guido, Gerber Bernhard,
Abstract
Daratumumab, an anti-CD38 antibody, is effective in AL amyloidosis with low tumor burden. Data of daratumumab treatment in patients with AL amyloidosis but high tumor burden (? 10% bone marrow plasma cells) is limited. We report retrospective data of ten consecutive patients with high tumor burden treated with daratumumab for relapsed/refractory AL amyloidosis. The median age at diagnosis was 62.3 years, all patients had cardiac involvement, and six (60%) patients had renal involvement. Median bone marrow plasma cell infiltration was 15% (range 10%-40%), and the median difference between involved and non-involved free light-chains (dFLC) was 446 mg/L (range 102-1392 mg/L). Patients had a median of three prior lines of therapy, including bortezomib in all patients, and lenalidomide in seven (70%) patients. The median time to first hematological response was 14 days (range 7-28 days), and the median time to best hematological response was 64 days (range 7-301 days). The hematological overall response was 90%, with high-quality response (? very good partial remission (VGPR)) in 70% of the patients. Fifty percent of the patients had a cardiac response after a median of 3.8 months (range 0.7 - 9.1). Infusion-related adverse events ? grade 2 occurred in seven (70%) patients, and grade 3 adverse events in one patient. After a median follow-up time of 10 months 8 (80%) patients continued to receive daratumumab. We conclude that daratumumab is a very effective and safe treatment option in AL patients with relapsed/refractory disease, and high disease burden at diagnosis. Daratumumab leads to rapid disease control, and improvement of organ function.
This article is protected by copyright. All rights reserved.
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[Current diagnosis and treatment of AL amyloidosis in Japan: a nationwide epidemiological survey].
Rinsho Ketsueki2019 ;60(8):973-978. doi: 10.11406/rinketsu.60.973.
Shimazaki Chihiro,
Abstract
Immunoglobulin light chain (AL) amyloidosis is a plasma cell disorder characterized by the deposition of insoluble fibrillary protein derived from misfolded immunoglobulin light chains in several organs, resulting in organ failure and death. However, little information is available about the prevalence and demographic characteristics of AL amyloidosis and the treatment strategy for the condition in Japan. The Amyloidosis Research Committee, Intractable Disease Division, of the Japanese Ministry of Health and Welfare, retrospectively conducted a nationwide survey of Japanese patients with AL amyloidosis who visited affiliated hospitals from January 2012 to December 2014. The number of patients with AL amyloidosis who visited the hospitals during the study period was 3170, and its incidence was estimated to be 4.2 per million person-years in Japan. For the second questionnaire, we collected 741 patients with AL amyloidosis (median age, 65 years; 59% males). The most commonly affected organ was the kidneys, followed by the heart, gastrointestinal tract, and autonomic nervous system. Only 53% of patients were accurately diagnosed by immunohistochemistry using an anti-light chain antibody. Cardiac amyloidosis was diagnosed at later stages. The leading non-transplant regimen was the bortezomib-combined regimen.
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Utility of B-Type Natriuretic Peptide for Detecting Cardiac Involvement in Immunoglobulin Amyloidosis.
Int Heart J2019 Sep;():. doi: 10.1536/ihj.19-043.
Kimishima Yusuke, Yoshihisa Akiomi, Kiko Takatoyo, Yokokawa Tetsuro, Miyata-Tatsumi Makiko, Misaka Tomofumi, Oikawa Masayoshi, Kobayashi Atsushi, Takeishi Yasuchika,
Abstract
A useful biomarker for detecting cardiac amyloidosis (CA) has not been fully established. We aimed to investigate the utility of several biomarkers to detect CA in patients with amyloid light-chain (AL) amyloidosis.We examined the plasma levels of B-type natriuretic peptide (BNP), N-terminal fragment of the pro-brain natriuretic peptide (NT-proBNP), high-sensitivity cardiac troponin T (hs-cTnT), serum amyloid A, and the difference between kappa and lambda free light chain (dFLC) between CA patients (n = 30, 47.6%) and non-CA patients (n = 33, 52.4%). Levels of BNP were significantly higher in the CA group compared to the non-CA group (1200.0 versus 224.0 pg/mL, P = 0.001). From the ROC analysis, the sensitivity and specificity of BNP for detecting CA (with a cut-off value of 412 pg/mL) were 83% and 70%, respectively, and the area under the receiver operating curve was 0.75 (95% CI 0.61-0.90, P < 0.001) in all AL amyloidosis patients (n = 63). In contrast, other markers such as NT-proBNP, hs-cTnT, serum amyloid A, and dFLC were not useful for detecting CA in AL amyloidosis patients. Additionally, in the Cox proportional hazard analysis, BNP was a predictor of all-cause mortality (hazard ratio 3.266, 95% confidence interval 1.498-7.119, P = 0.003).BNP is a useful biomarker for detecting cardiac involvement and predicting prognosis in AL amyloidosis patients.
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Characterizing cardiac involvement in amyloidosis using cardiovascular magnetic resonance diffusion tensor imaging.
J Cardiovasc Magn Reson2019 Sep;21(1):56. doi: 10.1186/s12968-019-0563-2.
Gotschy Alexander, von Deuster Constantin, van Gorkum Robbert J H, Gastl Mareike, Vintschger Ella, Schwotzer Rahel, Flammer Andreas J, Manka Robert, Stoeck Christian T, Kozerke Sebastian,
Abstract
BACKGROUND:
In-vivo cardiovascular magnetic resonance (CMR) diffusion tensor imaging (DTI) allows imaging of alterations of cardiac fiber architecture in diseased hearts. Cardiac amyloidosis (CA) causes myocardial infiltration of misfolded proteins with unknown consequences for myocardial microstructure. This study applied CMR DTI in CA to assess microstructural alterations and their consequences for myocardial function compared to healthy controls.
METHODS:
Ten patients with CA (8 AL, 2 ATTR) and ten healthy controls were studied using a diffusion-weighed second-order motion-compensated spin-echo sequence at 1.5?T. Additionally, left ventricular morphology, ejection fraction, strain and native T1 values were obtained in all subjects. In CA patients, T1 mapping was repeated after the administration of gadolinium for extracellular volume fraction (ECV) calculation. CMR DTI analysis was performed to yield the scalar diffusion metrics mean diffusivity (MD) and fractional anisotropy (FA) as well as the characteristics of myofiber orientation including helix, transverse and E2A sheet angle (HA, TA, E2A).
RESULTS:
MD and FA were found to be significantly different between CA patients and healthy controls (MD 1.77?±?0.17 10 vs 1.41?±?0.07 10?mm/s, p?
CONCLUSION:
CMR DTI reveals significant alterations of scalar diffusion metrics in CA patients versus healthy controls. Elevated MD and lower FA values indicate myocardial disarray with higher diffusion in CA that correlates well with native T1 and ECV measures. In CA patients, CMR DTI showed pronounced circumferential orientation of the myofibers, which may provide the rationale for the reduction of global longitudinal strain that occurs in amyloidosis patients. Accordingly, CMR DTI captures specific features of amyloid infiltration, which provides a deeper understanding of the microstructural consequences of CA.
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Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis.
Circ Heart Fail2019 Sep;12(9):e006075. doi: 10.1161/CIRCHEARTFAILURE.119.006075.
Maurer Mathew S, Bokhari Sabahat, Damy Thibaud, Dorbala Sharmila, Drachman Brian M, Fontana Marianna, Grogan Martha, Kristen Arnt V, Lousada Isabelle, Nativi-Nicolau Jose, Cristina Quarta Candida, Rapezzi Claudio, Ruberg Frederick L, Witteles Ronald, Merlini Giampaolo,
Abstract
Cardiomyopathy is a manifestation of transthyretin amyloidosis (ATTR), which is an underrecognized systemic disease whereby the transthyretin protein misfolds to form fibrils that deposit in various tissues and organs. ATTR amyloidosis is debilitating and associated with poor life expectancy, especially in those with cardiac dysfunction, but a variety of treatment options have recently become available. Considered a rare disease, ATTR amyloidosis may be more prevalent than thought, particularly in older persons. Diagnosis is often delayed because of a lack of disease awareness and the heterogeneity of symptoms at presentation. Given the recent availability of effective treatments, early recognition and diagnosis are especially critical because treatment is likely more effective earlier in the disease course. The Amyloidosis Research Consortium recently convened a group of experts in ATTR amyloidosis who, through an iterative process, agreed on best practices for suspicion, diagnosis, and characterization of disease. This review describes these consensus recommendations for ATTR associated with cardiomyopathy as a resource to aid cardiologists and others in the recognition and diagnosis of ATTR associated with cardiomyopathy. Included in this review is an overview of red flag signs and symptoms and a recommended diagnostic approach, including testing for monoclonal protein, scintigraphy, or biopsy and, if ATTR associated with cardiomyopathy is identified, TTR genotyping.
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A special case of hypertrophic cardiomyopathy with a differential diagnosis of isolated cardiac amyloidosis or junctophilin type 2 associated cardiomyopathy.
Acta Clin Belg2019 Sep;():1-8. doi: 10.1080/17843286.2019.1662572.
De Bruijn Sévérine, Galloo Xavier, De Keulenaer Gilles, Prihadi Edgard A, Brands Christiane, Helbert Mark,
Abstract
Differential diagnosis between hypertrophic cardiomyopathy (HCM) and cardiac amyloidosis (CA) is mandatory since the prognosis is very different, but not always possible as both diseases present with increased myocardial thickness and mass. Despite better knowledge of the pathophysiology of both HCM and CA, and new developments in diagnosis, many patients with cardiac involvement in systemic amyloidosis are still only diagnosed in an advanced stage. Improvements in non-invasive diagnostic methods such as ultrasound techniques and cardiac magnetic resonance imaging will eventually obviate the need for invasive studies in order to prove amyloid cardiomyopathy. Nevertheless, today, an endomyocardial biopsy still remains the golden standard. We present an 86-year-old man, diagnosed with hypertrophic cardiomyopathy, in whom echocardiography and cardiac magnetic resonance imaging strongly suggested amyloidosis to be the underlying cause. Interestingly, a new variant of the junctophilin 2 (JPH2) gene, related to hypertrophic cardiomyopathies, was found in our patient.
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Amyloid transthyretin cardiac amyloidosis: diagnosis and management.
Expert Rev Cardiovasc Ther2019 Sep;17(9):673-681. doi: 10.1080/14779072.2019.1662723.
Di Giovanni Bennett, Gustafson Dakota, Delgado Diego Hernan,
Abstract
: Cardiac amyloidosis is a disorder caused by the accumulation of abnormal protein products, amyloid, in the myocardium which subsequently impairs normal heart function. Heart failure with preserved ejection fraction has been increasingly attributed to amyloidosis and the resultant restrictive cardiomyopathy it creates. : Amyloid transthyretin (ATTR) is one of several identified amyloid products that have been pathologically implicated in cardiac amyloidosis through advanced diagnostics. Improvements in nuclear imaging techniques, particularly scintigraphy, have enabled non-invasive diagnosis where previously endomyocardial biopsy was the only option. Despite being considered a rare disease, it is likely that ATTR cardiac amyloidosis is an underdiagnosed condition which has been supported by autopsy findings in heart failure populations. This article will review ATTR cardiac amyloidosis to provide physicians with the tools they need to establish a definitive diagnosis when there is a clinical suspicion of amyloidosis and provide the most appropriate care. : Increased awareness and improved diagnostic techniques will lead to earlier diagnosis and a greater understanding of the clinical presentation. The anticipated increases in the prevalence of this disease due to increased clinical awareness will require, and in-part, facilitate the development of new therapies to manage this patient population.
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First case of cardiac amyloidosis presenting as right atrial mass.
Anatol J Cardiol2019 Sep;22(3):152-154. doi: 10.14744/AnatolJCardiol.2019.49683.
Acibuca Aynur, Okar Sefa, Canpolat Tuba, Koc Zafer, Güllü Hakan,
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