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Cardiac amyloidosis

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https://www.readbyqxmd.com/read/28102864/transthyretin-v122i-pv142i-cardiac-amyloidosis-an-age-dependent-autosomal-dominant-cardiomyopathy-too-common-to-be-overlooked-as-a-cause-of-significant-heart-disease-in-elderly-african-americans
#1
REVIEW
Joel N Buxbaum, Frederick L Ruberg
Since the identification of a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in the transthyretin (TTR)-derived fibrils extracted from the heart of a patient with late-onset cardiac amyloidosis, it has become clear that the amyloidogenic mutation and the disease occur almost exclusively in individuals of identifiable African descent. In the United States, the amyloidogenic allele frequency is 0.0173 and is carried by 3.5% of community-dwelling African Americans. Genotyping across Africa indicates that the origin of the allele is in the West African countries that were the major source of the slave trade to North America...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28090046/an-isolated-case-of-late-onset-amyloidogenic-transthyretin-type-familial-amyloid-polyneuropathy-associated-with-a-mutant-transthyretin-substituting-methionine-for-valine-at-position-30-showing-latent-progressive-cardiac-involvement-confirmed-by-serial-annual
#2
Chikako Sato, Tomofumi Takaya, Shumpei Mori, Kohei Hasegawa, Fumitaka Soga, Hidekazu Tanaka, Yoshiaki Watanabe, Tatsuya Nishii, Atsushi K Kono, Yukiko Morinaga, Hatsue Ishibashi-Ueda, Ken-Ichi Hirata
Late-onset amyloidogenic transthyretin (ATTR) type familial amyloid polyneuropathy (FAP) shows features distinct from those of early-onset hereditary ATTR type FAP. We herein describe an asymptomatic 68-year-old man with late-onset ATTR type FAP whose serial annual electrocardiograms demonstrated progressive left bundle branch block. Latent but severe cardiac involvement seems to be one feature of late-onset ATTR type FAP, similar to senile systemic amyloidosis (SSA). Early differential diagnosis of late-onset ATTR type FAP from SSA is important because, currently, only the former has new therapeutic options available in Japan...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28090011/cardiac-amyloidosis-associated-with-amyloidogenic-transthyretin-v122i-variant-in-an-elderly-japanese-woman
#3
Tsuneaki Yoshinaga, Masahide Yazaki, Masakazu Ohno, Satoshi Kodama, Jun Koyama, Yoshiki Sekijima
No abstract text is available yet for this article.
January 14, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28069318/right-ventricular-hypertrophy-systolic-function-and-disease-severity-in-anderson-fabry-disease-an-echocardiographic-study
#4
Francesca Graziani, Marianna Laurito, Maurizio Pieroni, Faustino Pennestrì, Gaetano Antonio Lanza, Valentina Coluccia, Antonia Camporeale, Daniela Pedicino, Elena Verrecchia, Raffaele Manna, Filippo Crea
BACKGROUND: Right ventricular (RV) involvement has been described in Anderson-Fabry disease (AFD), especially in patients with established Fabry cardiomyopathy (FC). However, few and controversial data on RV systolic function are available, and there are no specific tissue Doppler studies. METHODS: Detailed echocardiographic examinations were performed in 45 patients with AFD. FC, defined as maximal left ventricular wall thickness ≥ 15 mm, was present in 12...
January 6, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/28063633/evaluation-of-myocardial-strain-in-patients-with-amyloidosis-using-cardiac-magnetic-resonance-feature-tracking
#5
Tarun Pandey, Sindhura Alapati, Vibhor Wadhwa, Mohan M Edupuganti, Pooja Gurram, Shelly Lensing, Kedar Jambhekar
PURPOSE: To study the use of cardiac magnetic resonance (CMR) feature tracking technique in evaluation of myocardial amyloidosis. MATERIALS AND METHODS: CMR scans of 28 patients with biopsy proven myocardial amyloidosis and 35 controls were reviewed. Conventional short axis, vertical long axis, and 4-chamber cine steady-state free precession images from CMR scans were used to generate radial, circumferential, and longitudinal myocardial strain maps using feature tracking software...
November 10, 2016: Current Problems in Diagnostic Radiology
https://www.readbyqxmd.com/read/28061823/a-case-report-in-cardiovascular-magnetic-resonance-the-contrast-agent-matters-in-amyloid
#6
Marianna Fontana, Thomas A Treibel, Ana Martinez-Naharro, Stefania Rosmini, Raymond Y Kwong, Julian D Gillmore, Philip N Hawkins, James C Moon
BACKGROUND: Cardiac amyloidosis is a progressive but underdiagnosed and underappreciated cause of heart failure. In the last few years, cardiovascular magnetic resonance (CMR) has become the gold standard for non invasive diagnosis of cardiac amyloidosis with the characteristic subendocardial late gadolinium enhancement. CASE PRESENTATION: We describe a case of a patient who, in the process of aligning protocols for a trial between different centers, had a paired study with two different contrast agents, Dotarem® and MultiHance®...
January 7, 2017: BMC Medical Imaging
https://www.readbyqxmd.com/read/28056871/lung-adenocarcinoma-expressing-receptor-for-advanced-glycation-end-products-with-primary-systemic-al-amyloidosis-a-case-report-and-literature-review
#7
Shouichi Okamoto, Shinsaku Togo, Ichiro Nagata, Kazue Shimizu, Yoshika Koinuma, Yukiko Namba, Jun Ito, Toshimasa Uekusa, Kazuhisa Takahashi
BACKGROUND: Receptor for advanced glycation end-products (RAGE), a receptor for amyloids, is constitutively expressed in lungs and generally observed to be downregulated in lung cancer tissues. However, increasing levels of RAGE or serum amyloids is associated with poor outcome in lung cancer patients. We report a rare case of primary systemic amyloid light-chain (AL) amyloidosis in biopsy-proven multiple organs with early-stage non-small cell lung cancer (NSCLC) that displayed strong staining for RAGE in the tumour tissue...
January 5, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28050864/technetium-pyrophosphate-uptake-in-transthyretin-cardiac-amyloidosis-associations-with-echocardiographic-disease-severity-and-outcomes
#8
Michael N Vranian, Brett W Sperry, Mazen Hanna, Rory Hachamovitch, Asad Ikram, Richard C Brunken, Wael A Jaber
BACKGROUND: Quantitative uptake of Technetium 99 m-pyrophosphate (TcPYP) is sensitive and specific for diagnosing transthyretin cardiac amyloidosis (ATTR). We sought to examine the association between TcPYP uptake intensity and echocardiographic measures of disease severity and clinical outcomes. METHODS AND RESULTS: A retrospective analysis was performed of 75 patients who underwent TcPYP scintigraphy. Planar images were evaluated semiquantitatively and using heart-to-contralateral lung (H/CL) ratio...
January 3, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28049649/hereditary-lysozyme-amyloidosis-variant-p-leu102ser-associates-with-unique-phenotype
#9
Samih H Nasr, Surendra Dasari, John R Mills, Jason D Theis, Michael T Zimmermann, Rafael Fonseca, Julie A Vrana, Steven J Lester, Brooke M McLaughlin, Robert Gillespie, W Edward Highsmith, John J Lee, Angela Dispenzieri, Paul J Kurtin
Lysozyme amyloidosis (ALys) is a rare form of hereditary amyloidosis that typically manifests with renal impairment, gastrointestinal (GI) symptoms, and sicca syndrome, whereas cardiac involvement is exceedingly rare and neuropathy has not been reported. Here, we describe a 40-year-old man with renal impairment, cardiac and GI symptoms, and peripheral neuropathy. Renal biopsy specimen analysis revealed amyloidosis with extensive involvement of glomeruli, vessels, and medulla. Amyloid was also detected in the GI tract...
January 3, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28042785/anterior-aortic-plane-systolic-excursion-a-novel-indicator-of-transplant-free-survival-in-systemic-light-chain-amyloidosis
#10
Marco M Ochs, Johannes Riffel, Arnt V Kristen, Ute Hegenbart, Stefan Schönland, Stefan E Hardt, Hugo A Katus, Derliz Mereles, Sebastian J Buss
BACKGROUND: Anterior aortic plane systolic excursion (AAPSE) was evaluated in the present pilot study as a novel echocardiographic indicator of transplant-free survival in patients with systemic light-chain amyloidosis. METHODS: Eighty-nine patients with light-chain amyloidosis were included in the post-hoc analysis. A subgroup of 54 patients with biopsy-proven cardiac amyloid infiltration were compared with 41 healthy individuals to evaluate the discriminative ability of echocardiographic findings...
December 2016: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/28035639/mycobacterium-infection-from-a-cardiopulmonary-bypass-heater-cooler-unit-in-a-patient-with-steroid-induced-immunosuppression
#11
Yi Cai, Kevin Landolfo, Johnathan R Renew
PURPOSE: To present a case of mycobacterium infection transmitted through a heater-cooler unit during cardiac bypass surgery. CLINICAL FEATURES: A 63-yr-old woman with a past medical history of aortic coarctation repair in 1963 and a mechanical aortic valve replacement in 2010 was prescribed antibiotics and steroids at an outpatient care facility in September 2015 for symptoms of an upper respiratory tract infection. Four months later, she developed malaise and intermittent fever with anemia and acute kidney dysfunction...
December 29, 2016: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
https://www.readbyqxmd.com/read/28033255/primarily-isolated-hepatic-involvement-of-amyloidosis-a-case-report-and-overview
#12
Lei Ye, Hui Shi, Hui-Min Wu, Fang-Yu Wang
BACKGROUND: Amyloidosis is particularly difficult to diagnose because the signs and symptoms are subtle. Additionally, there are no specific imaging or laboratory tests, except histopathology. Although it is considered to be a systemic disorder, a small portion of cases may be localized. INTRODUCTION OF THE CASE: A 54-year-old man presented with nonspecific symptoms (jaundice and back pruritus). Biochemical tests showed a high level of bilirubin and elevated serum tumor markers (CA19-9 and CA125)...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28011000/baseline-characteristics-predict-the-presence-of-amyloid-on-endomyocardial-biopsy
#13
Van-Khue Ton, Aditya Bhonsale, Nisha A Gilotra, Marc K Halushka, Charles Steenbergen, Johana Almansa, Emily Brown, Ryan J Tedford, Ilan Wittstein, Kavita Sharma, Stuart D Russell, Daniel P Judge
BACKGROUND: Recent studies have suggested a high prevalence of cardiac amyloidosis (CAm) in heart failure (HF) patients. CAm might be underdiagnosed owing to low clinical suspicion. METHODS AND RESULTS: We performed retrospective analysis of 259 patients with HF and ejection fraction (EF) ≥50% referred for endomyocardial biopsy. Seventy-three (28%) had CAm. Multivariable independent predictors of CAm were identified. Over a mean follow-up of 2.6 ± 3.3 years, CAm patients had worse survival than those without (1...
December 20, 2016: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/28002971/new-and-developing-therapies-for-al-amyloidosis
#14
Giulia Zumbo, Omid Sadeghi-Alavijeh, Philip N Hawkins, Marianna Fontana
Systemic light-chain (AL) amyloidosis is an infiltrative disorder associated with an underlying plasma cells dyscrasia, in which monoclonal immunoglobulin light chains accumulate in an abnormal misfolded form as amyloid fibrils in the extracellular space. Symptoms and prognosis are governed by which organs are affected, and cardiac involvement is the major determinant of survival. Diagnosis requires demonstration of amyloid deposition and confirmation of the fibril protein type. Areas covered: This review will focus on the available treatments for systemic AL amyloidosis and on new drug targets and therapeutic approaches...
December 29, 2016: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/27995877/-the-diagnostic-and-prognostic-values-of-serum-free-light-chain-in-patients-with-primary-light-chain-amyloidosis
#15
C L Zhang, J Feng, K N Shen, W Su, C L Zhang, X F Huang, X X Cao, L Zhang, D B Zhou, J Li
Objective: To investigate the diagnostic and prognostic values of serum free light chain (sFLC) in patients with primary light chain amyloidosis (pAL). Methods: Patients diagnosed with pAL between January 2009 and June 2015 at Peking Union Medical College Hospital were included in this study to retrospectively evaluate the clinical data, sFLC, treatment and survival. Results: In total, 126 newly diagnosed pAL patients with complete sFLC data were included in this study. The median age was 57 years old (range, 37-81 years) and male to female ratio was 1...
November 14, 2016: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/27992035/speckle-tracking-and-transthyretin-amyloid-cardiomyopathy
#16
Alexandre Marins Rocha, Suzane Garcia Ferreira, Marcelo Souto Nacif, Mario Luiz Ribeiro, Marcos Raimundo Gomes de Freitas, Cláudio Tinoco Mesquita
Background: Amyloidosis is a disease caused by deposits of insoluble fibrils in extracellular spaces. The most common type of familial amyloidosis is mediated by mutation of transthyretin, especially Val30Met. Symptoms and ejection fraction decrease may occur in cardiac amyloidosis only in case of poor prognosis. Myocardial strain detected by two-dimensional speckle tracking echocardiography can indicate changes in myocardial function at early stages of the disease. Objective: To determine the accuracy of left ventricular longitudinal strain by two-dimensional speckle tracking echocardiography in patients with familial amyloidosis caused by Val30Met transthyretin mutation...
December 19, 2016: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/27965280/longitudinal-systolic-strain-cardiac-function-improvement-and-survival-following-treatment-of-light-chain-al-cardiac-amyloidosis
#17
Francesco Salinaro, Hans K Meier-Ewert, Edward J Miller, Shivda Pandey, Vaishali Sanchorawala, John L Berk, David C Seldin, Frederick L Ruberg
AIMS: To determine whether echocardiographic longitudinal systolic strain (LS) parameters identify short-term improvement following chemotherapy for light-chain (AL) cardiac amyloidosis (CA). Among patients with CA, standard echocardiographic measures are commonly unchanged at 1 year following successful chemotherapy, despite observed reductions in cardiac biomarkers. METHODS AND RESULTS: We retrospectively identified 61 patients with AL-CA treated with high-dose melphalan or bortezomib-based regimens...
December 12, 2016: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/27957348/exercise-stress-echocardiography-reveals-systolic-anterior-motion-of-the-mitral-valve-as-a-cause-of-syncopes-in-a-cardiac-amyloidosis-patient
#18
Tor Skibsted Clemmensen, Henning Mølgaard, Niels Frost Andersen, Steen Baerentzen, Steen Hvitfeldt Poulsen
Patients with cardiac amyloidosis are at increased AV-block and syncope risk. Therefore, a prophylactic pacemaker is often implanted. However, this case illustrates that other mechanisms should be ruled out prior to pacemaker implantation. The patient studied had mitral valve thickening without increased left ventricular outflow track (LVOT) velocity. However, bicycle exercise-stress test with simultaneous echocardiography revealed a stepwise decrease in blood pressure, a substantial increase in the LVOT velocity, and severe systolic anterior motion of the mitral valve...
2016: Case Reports in Cardiology
https://www.readbyqxmd.com/read/27900617/new-and-evolving-concepts-regarding-the-prognosis-and-treatment-of-cardiac-amyloidosis
#19
REVIEW
Stefano Perlini, Roberta Mussinelli, Francesco Salinaro
Systemic amyloidoses are rare and proteiform diseases, caused by extracellular accumulation of insoluble misfolded fibrillar proteins. Prognosis is dictated by cardiac involvement, which is especially frequent in light chain (AL) and in transthyretin variants (ATTR, both mutated, (ATTRm), and wild-type, (ATTRwt)). Recently, ATTRwt has emerged as a potentially relevant cause of a heart failure with preserved ejection fraction (HFpEF). Cardiac amyloidosis is an archetypal example of restrictive cardiomyopathy, with signs and symptoms of global heart failure and diastolic dysfunction...
December 2016: Current Heart Failure Reports
https://www.readbyqxmd.com/read/27885144/treatment-of-multiple-myeloma-in-a-heart-transplant-recipient-focus-on-the-immunomodulatory-effects-of-lenalidomide
#20
Lola Xie, Bartosz Jozwik, Phillip Weeks, L Maximilian Buja, Robert Brown, Sriram Nathan, Keshava Rajagopal, Christina Paruthi, Biswajit Kar, Pranav Loyalka, Indranee Rajapreyar
Malignancy following solid organ transplant remains a significant threat to the survival of cardiac transplant recipients. Plasma cell dyscrasias including multiple myeloma have been encountered in this population, and medication treatments traditionally used to treat these disorders demonstrate immunomodulatory effects that may have implications on the transplanted allograft. Lenalidomide is an immunomodulatory agent that has been used to treat plasma cell disorders, including light-chain amyloidosis (AL) and multiple myeloma, and represents such a class of medications in which the risks and benefits in the solid organ transplant population remain to be fully elucidated...
November 24, 2016: Progress in Transplantation
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