SOSTIENICI
Pubblicazioni recenti - cardiac amyloidosis
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Amyloidosis Tissue Confirmation for Tafamidis Eligibility Using Transverse Carpal Ligament and Tenosynovium Biopsy.
Can J Cardiol2022 Jun;():. doi: S0828-282X(22)00392-0.
Khayambashi Shahin, Elzinga Kate, Hahn Christopher, Chhibber Sameer, Mahe Etienne, Miller Robert J H, White James A, Howlett Jonathan G, Jimenez-Zepeda Victor, Fine Nowell M,
Abstract
In most Canadian provinces, eligibility criteria for public reimbursement coverage for tafamidis for treatment of transthyretin amyloidosis cardiomyopathy (ATTR-CM) include tissue biopsy confirmation of amyloidosis. Carpal tunnel syndrome requiring surgical release is common in ATTR-CM. We report our experience performing simultaneous transverse carpal ligament and tenosynovium biopsy during CTR, with all patients positive for amyloidosis, facilitating initiation of tafamidis.
Copyright © 2022. Published by Elsevier Inc.
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Popeye's sign and transthyretin amyloidosis.
Eur Heart J2022 Jun;():. doi: ehac330.
Tahara Nobuhiro, Honda Akihiro, Ueda Mitsuharu, Fukumoto Yoshihiro,
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Hereditary transthyretin amyloidosis: a case report.
J Med Case Rep2022 Jun;16(1):248. doi: 10.1186/s13256-022-03437-0.
Lee Angela, Fine Nowell M, Bril Vera, Delgado Diego, Hahn Christopher,
Abstract
BACKGROUND:
Hereditary transthyretin amyloidosis is an uncommon multisystem disorder caused by mutation of the transthyretin protein, leading to peripheral neuropathy often with autonomic features, cardiomyopathy, or a mixed phenotype. Multiple other organ systems can be involved with ophthalmologic, renal, hematologic, gastrointestinal, and/or genitourinary symptoms and signs. This often results in assessments by multiple specialists and significant delays before the diagnosis is recognized. With the recent advent of potentially lifesaving therapies, early diagnosis has become even more important. Our case highlights the protean aspects of this disease as well as the difficulty of making this diagnosis, especially in the absence of a clear family history.
CASE PRESENTATION:
We report the case of a 64-year-old man of East-Asian descent who presented with diarrhea, mild anemia, and symptoms of peripheral neuropathy. Numerous investigations and specialist evaluations did not identify a cause. Progression of neurologic symptoms and the development of new hematologic abnormalities ultimately led to consideration of hereditary transthyretin amyloidosis. The diagnosis was confirmed after re-examining previously acquired gastrointestinal biopsies and pursuing genetic testing, which confirmed a pathogenic mutation in the transthyretin gene. He was subsequently started on a novel gene-silencing therapy. On clinical follow-up 8 months after initiation of therapy, the patient described stabilization of previously progressive numbness, weakness, and weight loss with an unchanged neurologic examination and stable repeat electrophysiologic testing.
CONCLUSIONS:
Hereditary transthyretin amyloidosis is a challenging disease to recognize in early stages owing to its multisystem and nonspecific manifestations. Recent approval of novel therapies highlights the importance of early diagnosis before irreversible organ damage occurs.
© 2022. The Author(s).
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The Clinical Characteristics and Prognosis of Chinese Patients with Light-Chain Amyloidosis: A Retrospective Multicenter Analysis.
Indian J Hematol Blood Transfus2022 Jul;38(3):444-453. doi: 10.1007/s12288-021-01469-y.
He Donghua, Guan Fangshu, Hu Minli, Zheng Gaofeng, He Jingsong, Han Xiaoyan, Yang Yang, Hong Pan, Wang Gang, Zhao Yi, Wu Wenjun, Cai Zhen,
Abstract
To retrospectively identify the critical characteristics and prognostic factors of light-chain amyloidosis.
PATIENTS AND METHODS:
Data were collected and compared from 91 patients who were diagnosed with light-chain amyloidosis at four hospitals between January 2010 and November 2018. We analyzed the clinical characteristics and performed an overall survival (OS) analysis.
RESULTS:
Patients (median age, 60 years) were diagnosed with organ involvement of the kidney (91.2%), heart (56%), liver (14.3%), soft tissue (18.7%), or gastrointestinal tract (15.4%), and 68.1% of patients had more than two organs involved. Patients were most treated with bortezomib-based regimens (56%), and only one patient had autologous stem cell transplantation (auto-ASCT). The median OS was 36.33 months and was influenced by the ECOG score, renal involvement, cardiac involvement, hepatic involvement, and persistence of positive immunofixation. Patients who received bortezomib-based treatment had a trend of favorable OS compared to those who received non-bortezomib-based treatments, but the difference was not statistically significant. Although the overall number of organs involved was not related to OS, the number of organs involved in the heart, liver and kidney was related. Multivariate analysis indicated that cardiac involvement and negative hematologic response with persistence of positive immunofixation were independent prognostic factors for OS.
CONCLUSION:
Cardiac involvement and the hematologic response to treatment were independent prognostic factors for OS in light-chain amyloidosis patients.
© The Author(s) 2021.
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Heart Transplantation, Either Alone or Combined With Liver and Kidney, a Viable Treatment Option for Selected Patients With Severe Cardiac Amyloidosis.
Transplant Direct2022 Jul;8(7):e1323. doi: 10.1097/TXD.0000000000001323.
Guendouz Soulef, Grimbert Philippe, Radu Costin, Cherqui Daniel, Salloum Chady, Mongardon Nicolas, Maghrebi Sami, Belhadj Karim, Le Bras Fabien, Teiger Emmanuel, Couetil Jean-Paul, Balan Adriana, Kharoubi Mounira, Bézard Mélanie, Oghina Silvia, Bodez Diane, Hittinger Luc, Audard Vincent, Planté-Bordeneuve Violaine, De la Taille Alexandre, Bergoend Eric, Frenkel Valerie, Fanen Pascale, Leroy Vincent, Duvoux Christophe, Carmagnat Maryvonnick, Folliguet Thierry, Damy Thibaud,
Abstract
Heart transplantation in cardiac amyloidosis (CA) patients is possible and generally considered for transplantation if other organs are not affected. In this study, we aimed to describe and assess outcome in patients following heart transplantations at our CA referral center.
Methods:
We assessed all CA patients that had heart transplantations at our center between 2005 and 2018. Patients with New York Heart Association status 3 out of 4, with poor short-term prognosis due to heart failure, despite treatment, and without multiple myeloma, systemic disease, severe neuropathic/digestive comorbidities, cancer, or worsening infections were eligible for transplantation. Hearts were transplanted by bicaval technique. Standard induction and immunosuppressive therapies were used. Survival outcome of CA patients after transplantation was compared with recipients with nonamyloid pathologies in France.
Results:
Between 2005 and 2018, 23 CA patients had heart transplants: 17 (74%) had light chain (light chain amyloidosis [AL]) and 6 (26%) had hereditary transthyretin (hereditary transthyretin amyloidosis [ATTRv]) CA. Also, 13 (57%) were male, and the mean age at diagnosis was 56.5 y (range, 47.7-62.8). Among AL patients, 13 had heart-only and 5 had heart-kidney transplantations. Among ATTRv patients, 1 had heart-only and 5 had heart-liver transplantations. The 1-y survival rate after transplantation was 78%, 70% with AL, and 100% with ATTRv. At 2 y, 74% were alive: 65% with AL and 100% with ATTRv.
Conclusion:
After heart transplantation, French CA and nonamyloid patients have similar survival outcomes. Among CA patients, ATTRv patients have better prognosis than those with AL, possibly due to the combined heart-liver transplantation. Selected CA patients should be considered for heart transplantations.
Copyright © 2022 The Author(s). Transplantation Direct. Published by Wolters Kluwer Health, Inc.
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A Narrative Review of Tc-Aprotinin in the Diagnosis of Cardiac Amyloidosis and a New Life for an Unfairly Abandoned Drug.
Biomedicines2022 Jun;10(6):. doi: 1377.
Aprile Carlo, Lodola Lorenzo,
Abstract
Several studies investigated the use of Tc-labelled Aprotinin as an amyloid seeker some years ago. In vitro tests showed high binding affinity for several types of amyloid fibrils accompanied by an excellent specificity. Initial human studies demonstrated good accuracy in detecting cardiac involvement. Scintigraphy results were confirmed in a group of 28 endomyocardial biopsies. Unfortunately, clinical studies were halted because of a temporary suspension of the vector protein (Trasylol) and public health concerns over prion contamination of the bovine origin compound. To obviate these limitations, efforts have been made to label a recombinant Aprotinin with 99mTc, which exhibits the same affinity for h-insulin fibrils. With the aim of developing a PET tracer, the same recombinant protein was labeled with Gallium. The introduction of a bifunctional chelator did not affect fibril affinity. Finally, a synthetic peptidic fragment, the cyclic 30-51 SS, was synthetized. After direct technetium labeling, an impressive increase in affinity was demonstrated. This peptide appears to be a potential candidate for Gallium labeling through a bifunctional chelator for PET imaging.
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Two-year outcome of ventricular assist device via a modified left atrium to aorta approach in cardiac amyloidosis.
ESC Heart Fail2022 Jun;():. doi: 10.1002/ehf2.14039.
Lim Choon Pin, Lim Yeong Phang, Lim Chong Hee, Ong Hean-Yee, Tan Daryl, Omar Abdul Razakjr,
Abstract
Cardiac amyloidosis is a debilitating disease associated with poor long-term survival. Medical or palliative treatment is the usual course of therapy, but patients are often intolerant of conventional heart failure treatment. The current standard of care of sequential heart and bone marrow transplant is usually not feasible for ill or frail patients or in countries with limited organ donors or without transplant programmes. Left ventricular assist devices (LVAD) are not usually offered to these patients due to high peri-operative risks and risks of suction events with the LVAD in a small left ventricle. We report the 2 year outcome and discuss the challenges faced in the management of our patient with end-stage heart failure due to cardiac amyloidosis, who was successfully supported with an LVAD using a modified left atrium to aorta implantation technique.
© 2022 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.
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Phase 2 trial of ixazomib, cyclophosphamide, and dexamethasone for previously untreated light chain amyloidosis.
Blood Adv2022 Jun;():. doi: bloodadvances.2022007781.
Muchtar Eli, Gertz Morie A, LaPlant Betsy, Buadi Francis, Leung Nelson, O'Brien Patrick, Bergsagel P Leif, Fonder Amie, Hwa Yi Lisa, Hobbs Miriam, Helgeson Dania K, Bradt Erin E, Gonsalves Wilson I, Lacy Martha Q, Kapoor Prashant, Siddiqui Mustaqueem, Larsen Jeremy T, Warsame Rahma, Hayman Suzanne R, Go Ronald S, Dingli David, Kourelis Taxiarchis V, Dispenzieri Angela, Rajkumar S Vincent Vincent, Kumar Shaji K,
Abstract
Bortezomib, a proteasome inhibitor (PI) has shown efficacy in treatment of newly diagnosed and relapsed AL amyloidosis, and is often used in combination with cyclophosphamide and dexamethasone. Ixazomib is the first oral PI to be approved in routine practice but has not been evaluated yet in the upfront treatment setting. Newly diagnosed AL amyloidosis patients with measurable disease and adequate organ function were enrolled. The primary objective was to determine the hematologic response rate of ixazomib in combination with cyclophosphamide and dexamethasone. Treatment was given for 12 cycles, followed by ixazomib maintenance till progression. Thirty-five patients are included; median age was 67; 69% were male. Major organ involvement included heart (66%) and kidneys (54%). A median of 4 induction cycles (range 1-12) were administered. The overall hematologic response to induction was 63% and included complete response (CR) in 11.4% and very good partial response in 37.1% of patients. One patient was upstaged to CR during maintenance. The most common reason for going off study was institution of alternate therapy (61%). With a median follow-up on 29.7 months for the living patients, the 2-year PFS and OS were 74% and 78%, respectively. The median time to alternate therapy was 7.5 months. Grade ?3 hematological and non-hematological adverse events occurred in 23% and 49% of patients, respectively. Given the favorable toxicity profile, an important advantage for the typically frail AL population, further evaluation of the ixazomib in other combinations in the upfront setting is warranted. This trial is registered at www.clinicaltrials.gov as NCT01864018.
Copyright © 2022 American Society of Hematology.
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Baseline characteristics and secondary medication adherence among Medicare patients diagnosed with transthyretin amyloid cardiomyopathy and/or receiving tafamidis prescriptions: A retrospective analysis of a Medicare cohort.
J Manag Care Spec Pharm2022 Jul;28(7):766-777. doi: 10.18553/jmcp.2022.28.7.766.
Roy Anuja, Peterson Andrew, Marchant Nick, Alvir Jose, Bhambri Rahul, Bredl Zach, Benjumea Darrin, Kemner Jason, Parasuraman Bhash,
Abstract
Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed, life-threatening condition that mostly affects older persons. In May 2019, regulatory approval of tafamidis provided the first pharmacologic treatment of ATTR-CM. In the pivotal phase 3 Transthyretin Amyloidosis Cardiomyopathy Clinical Trial (ATTR-ACT), 97.2% of patients were classified as adherent (defined as taking ? 80% of scheduled doses). Given its recent approval, there is limited real-world evidence examining patient adherence to tafamidis. To evaluate adherence patterns, demographics, and clinical characteristics of patients in the United States receiving tafamidis prescriptions through Medicare. Secondarily, we aimed to evaluate concomitant medications filled by this patient population. We conducted a retrospective cohort study of US Medicare claims data, limited by the Health Insurance Portability and Accountability Act of 1996, in adult patients with an adjudicated pharmacy claim for tafamidis (tafamidis free acid 61-mg capsule once daily or tafamidis meglumine four 20-mg capsules once daily) between May 1, 2019, and June 30, 2021. Gaps in therapy were measured using day gaps between prescription refills and continuous measure of medication gaps. Implementation adherence was assessed through modified medication possession ratio (MPRm), medication refill adherence (MRA), and proportion of days covered (PDC). Patients were grouped based on Medicare coverage. Patients were analyzed by subgroups based on age and at the zip code level, via distressed communities index quartiles and rural-urban tiers. A total of 3,558 patients who received a prescription fill of a tafamidis formulation were identified using Medicare Fee-for-Service (FFS) and Medicare Advantage (MA) claims data from May 1, 2019, to June 30, 2021. The characteristics of this patient population were consistent with published literature, as 98.6% were older than 65 years, 53.4% were between 75 years and 84 years, and 81.5% were male. In the patient population receiving tafamidis refills, adherence was high across all 3 measures, with mean MPRm greater than 90% and mean MRA greater than 80%, across all age groups. Mean PDC adherence rates were 79% or more across all age groups. Concomitant medications were generally indicated for heart failure and thrombosis. Among monotherapy groups with similar demographic makeup, adherence was significantly higher among users of tafamidis free acid vs tafamidis meglumine (
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Diagnostic and Prognostic Values of Cardiopulmonary Exercise Testing in Cardiac Amyloidosis.
Front Cardiovasc Med2022 ;9():898033. doi: 10.3389/fcvm.2022.898033.
Banydeen Rishika, Monfort Astrid, Inamo Jocelyn, Neviere Remi,
Abstract
Cardiac amyloidosis (CA) is a myocardial disease characterized by extracellular amyloid infiltration throughout the heart, resulting in increased myocardial stiffness, and restrictive heart wall chamber behavior. Its diagnosis among patients hospitalized for cardiovascular diseases is becoming increasingly frequent, suggesting improved disease awareness, and higher diagnostic capacities. One predominant functional manifestation of patients with CA is exercise intolerance, objectified by reduced peak oxygen uptake (VO peak), and assessed by metabolic cart during cardiopulmonary exercise testing (CPET). Hemodynamic adaptation to exercise in patients with CA is characterized by low myocardial contractile reserve and impaired myocardial efficiency. Rapid shallow breathing and hyperventilation, in the absence of ventilatory limitation, are also typically observed in response to exercise. Ventilatory inefficiency is further suggested by an increased VE-VCO2 slope, which has been attributed to excessive sympathoexcitation and a high physiological dead space (VD/VT) ratio during exercise. Growing evidence now suggests that, in addition to well-established biomarker risk models, a reduced VO peak is potentially a strong and independent predictive factor of adverse patient outcomes, both for monoclonal immunoglobulin light chain (AL) or transthyretin (ATTR) CA. Besides generating prognostic information, CPET can be used for the evaluation of the impact of therapeutic interventions in patients with CA.
Copyright © 2022 Banydeen, Monfort, Inamo and Neviere.
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Late-Onset Hereditary Transthyretin Amyloidosis Val30Met in an Elderly Person in a Non-Endemic Area.
Int Med Case Rep J2022 ;15():299-306. doi: 10.2147/IMCRJ.S357236.
Wang Shun, Sun Jingping, Lu Qun, Li Hao, Zhang Yun,
Abstract
Introduction:
Patients with late-onset transthyretin Val30Met-associated hereditary transthyretin amyloidosis (hATTR) in non-endemic areas still remain undiagnosed because of diverse clinical presentations and various non-specific symptoms.
Case Presentation:
A 76-year-old male patient presented with progressive numbness, pain and weakness in his limbs, sweating, constipation and unexplained weight loss over the past seven years. He has shortness of breath, edema and hypotension for one month. The low QRS voltage on limb leads was not consistent with left ventricular hypertrophy, which is an important clue of cardiac amyloidosis (CA). The results of echocardiography speckle tracking imaging were consistent with CA. Serum immunofixation electrophoresis was negative, and serum-free light chain F?/F? ratio is normal or close to normal (0.26-1.65) for the patient, so AL amyloidosis can be excluded. A missense mutation c. 148 G-A Val30Met (p.Val50Met) was detected in TTR gene sequencing. The genetic finding confirmed hATTR Val30Met, familial amyloid polyneuropathy (FAP) and CA for the patient. The treatment effect was poor, and he died of cardiac involvement.
Conclusion:
It is challenge to make early diagnosis in patients with hATTR, due to the diversity of symptoms. Echocardiography is a vital tool in initial diagnosis. Genetic testing played vital roles in the definitive diagnosis of this disease. Raising awareness is critical for early diagnosis and provides opportunities for early treatment.
© 2022 Wang et al.
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Incidence and predictors of worsening heart failure in patients with wild-type transthyretin cardiac amyloidosis.
ESC Heart Fail2022 Jun;():. doi: 10.1002/ehf2.14000.
Ladefoged Bertil Thyrsted, Dybro Anne, Dahl Pedersen Anders Lehmann, Rasmussen Torsten Bloch, Vase Henrik Ølholm, Clemmensen Tor Skibsted, Gillmore Julian, Poulsen Steen Hvitfeldt,
Abstract
BACKGROUND:
Prognostic markers of survival have been identified in wild-type transthyretin amyloidosis (ATTRwt), but limited data exist with respect to hospitalizations with worsening heart failure (WHF). Predictive markers of WHF have yet to be identified.
METHODS:
From April 2017 to February 2021, 104 patients with ATTRwt were diagnosed and prospectively followed from the time of diagnosis to the time of death or the censoring date of 1 February 2021. Baseline patient characteristics, biomarkers, and advanced echocardiography were used to predict hospitalization with WHF.
RESULTS:
During the median follow-up period of 23 months, 51% of patients were hospitalized due to WHF. Seventy-three per cent of patients with WHF were admitted at least twice. Patients with WHF during the first year had significantly poorer survival (P
CONCLUSIONS:
A high incidence and recurrence of hospital admissions with WHF were demonstrated in contemporary patients with ATTRwt, which was associated with reduced survival. Patients with pacemaker devices prior to ATTRwt diagnosis experienced more frequent hospitalizations with WHF. PMI and right atrial enlargement were identified as independent predictors of WHF during follow-up.
© 2022 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.
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Prevalence and Clinical Outcomes of Transthyretin Amyloidosis: A Systematic Review and Meta-analysis.
Eur J Heart Fail2022 Jun;():. doi: 10.1002/ejhf.2589.
Antonopoulos Alexios S, Panagiotopoulos Ioannis, Kouroutzoglou Alexandrina, Koutsis Georgios, Toskas Pantelis, Lazaros Georgios, Toutouzas Konstantinos, Tousoulis Dimitris, Tsioufis Konstantinos, Vlachopoulos Charalambos,
Abstract
BACKGROUND:
Systematic evidence on the prevalence and clinical outcome of transthyretin amyloidosis (ATTR) is missing. We explored: a) the prevalence of cardiac amyloidosis in various patient subgroups, b) survival estimates for ATTR subtypes and c) the effects of novel therapeutics on the natural course of disease.
METHODS:
A systematic review of literature published in Medline before 31/12/2021 was performed for the prevalence of cardiac amyloidosis & all-cause mortality of ATTR patients. Extracted data included sample size, age, sex, and all-cause mortality at 1, 2 and 5-years. Subgroup analyses were performed for ATTR subtype i.e., wild type ATTR (wtATTR) vs. hereditary ATTR (htATTR), htATTR genotypes and treatment subgroups.
RESULTS:
We identified a total of 62 studies (n=277,882 individuals) reporting the prevalence of cardiac amyloidosis, which was high among patients with a hypertrophic cardiomyopathy phenotype, HFpEF, and elderly with aortic stenosis. Data on ATTR mortality were extracted from 95 studies (n=18,238 ATTR patients). Patients with wtATTR were older (p=7x10 ) and more frequently male (p=5x10 ) vs. htATTR. The 2-year survival of ATTR was 73.3% (95%CI 71.6-76.2); for non-subtyped ATTR 70.4% (95%CI 66.9-73.9), for wtATTR (76.0%, 95%CI: 73.0-78.9) and for htATTR (77.2%, 95%CI: 74.0-80.4); in meta-regression analysis wtATTR was associated with higher survival after adjusting for confounders. There was an interaction between survival and htATTR genotypes (p=10 , Val30Met having the lowest and Val122Ile/Thr60Ala the highest mortality). ATTR 2-year survival was higher on tafamidis/patisiran compared to natural disease course (79.9%, 95%CI: 74.4-85.3 vs. 72.4%, 95%CI 69.8-74.9, p
CONCLUSIONS:
We report the prevalence of ATTR in various population subgroups and provide survival estimates for the natural course of disease and the effects of novel therapeutics. Important gaps in worldwide epidemiology research in ATTR were identified. This article is protected by copyright. All rights reserved.
This article is protected by copyright. All rights reserved.
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A natural history analysis of asymptomatic gene carriers as they develop symptomatic transthyretin amyloidosis in the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Amyloid2022 Jun;():1-9. doi: 10.1080/13506129.2022.2070470.
Coelho Teresa, Conceição Isabel, Waddington-Cruz Márcia, Keohane Denis, Sultan Marla B, Chapman Doug, Amass Leslie, ,
Abstract
BACKGROUND:
Hereditary transthyretin amyloidosis (ATTRv amyloidosis) results from pathogenic mutations in the transthyretin () gene. This analysis aimed to better understand ATTRv amyloidosis development in asymptomatic gene carriers.
METHODS:
The Transthyretin Amyloidosis Outcomes Survey (THAOS) is an ongoing, global, longitudinal, observational survey of patients with transthyretin amyloidosis, including both inherited and wild-type disease, and asymptomatic gene carriers. Asymptomatic gene carriers were assessed longitudinally to identify those who developed ATTRv amyloidosis after enrolment in THAOS (data cut-off: 1 August 2021).
RESULTS:
Of 740 asymptomatic gene carriers, 268 (36.2%) (Val30Met, 212/613 [34.6%]; non-Val30Met, 48/111 [43.2%]) developed ATTRv amyloidosis within a median 2.2?years after enrolment. The most common first symptoms were sensory (49.5%) and autonomic (37.3%) neuropathy in Val30Met patients, and sensory neuropathy (45.8%) and cardiac disorder (22.9%) in non-Val30Met patients. Most patients first presented with a predominantly neurologic phenotype (Val30Met, 77.8%; non-Val30Met, 70.8%).
CONCLUSIONS:
More than one-third of asymptomatic gene carriers in THAOS developed ATTRv amyloidosis within a median 2?years of enrolment. Val30Met versus non-Val30Met patients had a lower transition rate. Given the importance of early treatment, these findings underscore the need for identification and careful monitoring of at-risk gene carriers to enable prompt treatment.
TRIAL REGISTRATION:
ClinicalTrials.gov: NCT00628745.
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Carpal Tunnel Syndrome in Patients Who Underwent Pacemaker Implantation and Relation to Amyloidosis, Heart Failure, and Mortality.
Am J Cardiol2022 Jun;():. doi: S0002-9149(22)00536-7.
Westin Oscar M, Butt Jawad H, Gustafsson Finn, Køber Lars, Vinther Michael, Maurer Mathew S, Fosbøl Emil L,
Abstract
Advances in treatment warrant earlier diagnosis of cardiac amyloidosis (CA). Common cardiac and extracardiac manifestations of CA, such as pacemaker implantation and carpal tunnel syndrome (CTS), might provide screening opportunities for CA. However the association between CTS and CA in patients undergoing pacemaker implantation has not been well studied. This study examined the association between previous CTS surgery and adverse cardiovascular outcomes in patients who underwent pacemaker implantation. Using Danish nationwide registries, we identified all patients ?50 years who underwent first-time pacemaker implantation during 2000 to 2018, examining the association between previous CTS surgery and adverse cardiovascular outcomes 5 years after pacemaker implantation. Cumulative incidence functions and Cox proportional hazard models were used to assess the differences. Among 57,315 patients who underwent pacemaker implantation, 2.2% (n = 1,266) had previous CTS surgery. Patients in the CTS cohort were older, more often female, and had more co-morbidities than patients without CTS. The cumulative 5-year mortality was higher among patients with CTS (44.6% [41.1% to 47.9%] versus 40.2% [39.7% to 40.6%], p = 0.04). In the adjusted models, previous CTS surgery was not associated with increased 5-year mortality, but it was associated with an increased rate of hospitalization for new-onset heart failure, (hazard ratio 1.32 [1.11 to 1.57], p = 0.002) and a higher risk of amyloidosis diagnosis after pacemaker implantation (hazard ratio 7.72 [2.96 to 20.10], p
Copyright © 2022 The Author(s). Published by Elsevier Inc. All rights reserved.
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Predicting pacemaker implantation in cardiac amyloidosis: Let's start with an ECG.
Eur J Heart Fail -
Multidisciplinary team management and long-term prognosis of an elderly patient with severe cardiac amyloidosis complicated with multiple myeloma.
J Geriatr Cardiol2022 May;19(5):398-402. doi: 10.11909/j.issn.1671-5411.2022.05.006.
Shang Zhi, Zhao Meng-Lin, Wang Xin-Yu, Gao Wei,
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Cardiac Amyloidosis.
Heart Fail Clin2022 Jul;18(3):479-488. doi: S1551-7136(22)00006-X.
Gertz Morie A,
Abstract
Amyloid deposits are defined by their tinctorial properties. Under the light microscope amyloid deposits are eosinophilic and amorphous when stained with hematoxylin and eosin. With Congo red staining the deposits are positive and under polarized light will exhibit green birefringence. Sixty years later electron microscopy demonstrated that all deposits were fibrillar. All amyloid deposits are protein derived. The clinical characteristics will be driven by the nature of the protein subunit. In cardiology, the 2 most common subunits accounting for well more than 90% of cardiac amyloidosis are either immunoglobulin light chain, amyloid light-chain (AL) amyloidosis, or transthyretin; transthyretin (TTR) amyloidosis. Although 70% of patients with systemic amyloidosis have cardiac involvement the diagnosis is made by cardiologists only 20% of the time, suggesting significant gaps in knowledge in how to establish a workflow to arrive at a diagnosis in everyday practice.
Published by Elsevier Inc.
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Myocardial Dysfunction in Patients with Cancer.
Heart Fail Clin2022 Jul;18(3):361-374. doi: S1551-7136(22)00012-5.
Koutroumpakis Efstratios, Agrawal Nikhil, Palaskas Nicolas L, Abe Jun-Ichi, Iliescu Cezar, Yusuf Syed Wamique, Deswal Anita,
Abstract
Myocardial dysfunction in patients with cancer is a major cause of morbidity and mortality. Cancer therapy-related cardiotoxicities are an important contributor to the development of cardiomyopathy in this patient population. Furthermore, cardiac AL amyloidosis, cardiac malignancies/metastases, accelerated atherosclerosis, stress cardiomyopathy, systemic and pulmonary hypertension are also linked to the development of myocardial dysfunction. Herein, we summarize current knowledge on the mechanisms of myocardial dysfunction in the setting of cancer and cancer-related therapies. Additionally, we briefly outline key recommendations on the surveillance and management of cancer therapy-related myocardial dysfunction based on the consensus of experts in the field of cardio-oncology.
Copyright © 2022 Elsevier Inc. All rights reserved.
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Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update.
Orphanet J Rare Dis2022 06;17(1):236. doi: 10.1186/s13023-022-02359-w.
Dispenzieri Angela, Coelho Teresa, Conceição Isabel, Waddington-Cruz Márcia, Wixner Jonas, Kristen Arnt V, Rapezzi Claudio, Planté-Bordeneuve Violaine, Gonzalez-Moreno Juan, Maurer Mathew S, Grogan Martha, Chapman Doug, Amass Leslie, ,
Abstract
BACKGROUND:
Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral nerves, and other tissues and organs.
METHODS:
Established in 2007, the Transthyretin Amyloidosis Outcomes Survey (THAOS) is the largest ongoing, global, longitudinal observational study of patients with ATTR amyloidosis, including both inherited and wild-type disease, and asymptomatic carriers of pathogenic TTR mutations. This descriptive analysis examines baseline characteristics of symptomatic patients and asymptomatic gene carriers enrolled in THAOS since its inception in 2007 (data cutoff: August 1, 2021).
RESULTS:
This analysis included 3779 symptomatic patients and 1830 asymptomatic gene carriers. Symptomatic patients were predominantly male (71.4%) and had a mean (standard deviation [SD]) age of symptom onset of 56.3 (17.8) years. Val30Met was the most common genotype in symptomatic patients in South America (80.9%), Europe (55.4%), and Asia (50.5%), and more patients had early- versus late-onset disease in these regions. The majority of symptomatic patients in North America (58.8%) had ATTRwt amyloidosis. The overall distribution of phenotypes in symptomatic patients was predominantly cardiac (40.7%), predominantly neurologic (40.1%), mixed (16.6%), and no phenotype (2.5%). In asymptomatic gene carriers, mean (SD) age at enrollment was 42.4 (15.7) years, 42.4% were male, and 73.2% carried the Val30Met mutation.
CONCLUSIONS:
This 14-year global overview of THAOS in over 5000 patients represents the largest analysis of ATTR amyloidosis to date and highlights the genotypic and phenotypic heterogeneity of the disease.
CLINICALTRIALS:
gov Identifier: NCT00628745.
© 2022. The Author(s).
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