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Pubblicazioni recenti - cardiac amyloidosis
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Non-invasive left ventricle pressure-volume loops: a new tool to track treatment response in cardiac ATTR amyloidosis?
Eur J Heart Fail2023 Mar;():. doi: 10.1002/ejhf.2841.
Fontana Marianna, Ioannou Adam, Bandera Francesco,
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Estimating the Prevalence of Cardiac Amyloidosis in Old Patients with Heart Failure-Barriers and Opportunities for Improvement: The PREVAMIC Study.
J Clin Med2023 Mar;12(6):. doi: 2273.
Ruiz-Hueso Rocío, Salamanca-Bautista Prado, Quesada-Simón Maria Angustias, Yun Sergi, Conde-Martel Alicia, Morales-Rull José Luis, Suárez-Gil Roi, García-García José Ángel, Llàcer Pau, Fonseca-Aizpuru Eva María, Amores-Arriaga Beatriz, Martínez-González Ángel, Armengou-Arxe Arola, Peña-Somovilla José Luis, López-Reboiro Manuel Lorenzo, Aramburu-Bodas Óscar, ,
Abstract
BACKGROUND:
Cardiac amyloidosis (CA) could be a common cause of heart failure (HF). The objective of the study was to estimate the prevalence of CA in patients with HF.
METHODS:
Observational, prospective, and multicenter study involving 30 Spanish hospitals. A total of 453 patients ? 65 years with HF and an interventricular septum or posterior wall thickness > 12 mm were included. All patients underwent a Tc-DPD/PYP/HMDP scintigraphy and monoclonal bands were studied, following the current criteria for non-invasive diagnosis. In inconclusive cases, biopsies were performed.
RESULTS:
The vast majority of CA were diagnosed non-invasively. The prevalence was 20.1%. Most of the CA were transthyretin (ATTR-CM, 84.6%), with a minority of cardiac light-chain amyloidosis (AL-CM, 2.2%). The remaining (13.2%) was untyped. The prevalence was significantly higher in men (60.1% vs 39.9%, = 0.019). Of the patients with CA, 26.5% had a left ventricular ejection fraction less than 50%.
CONCLUSIONS:
CA was the cause of HF in one out of five patients and should be screened in the elderly with HF and myocardial thickening, regardless of sex and LVEF. Few transthyretin-gene-sequencing studies were performed in older patients. In many patients, it was not possible to determine the amyloid subtype.
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Machine Learning Approaches in Diagnosis, Prognosis and Treatment Selection of Cardiac Amyloidosis.
Int J Mol Sci2023 Mar;24(6):. doi: 5680.
Allegra Alessandro, Mirabile Giuseppe, Tonacci Alessandro, Genovese Sara, Pioggia Giovanni, Gangemi Sebastiano,
Abstract
Cardiac amyloidosis is an uncommon restrictive cardiomyopathy featuring an unregulated amyloid protein deposition that impairs organic function. Early cardiac amyloidosis diagnosis is generally delayed by indistinguishable clinical findings of more frequent hypertrophic diseases. Furthermore, amyloidosis is divided into various groups, according to a generally accepted taxonomy, based on the proteins that make up the amyloid deposits; a careful differentiation between the various forms of amyloidosis is necessary to undertake an adequate therapeutic treatment. Thus, cardiac amyloidosis is thought to be underdiagnosed, which delays necessary therapeutic procedures, diminishing quality of life and impairing clinical prognosis. The diagnostic work-up for cardiac amyloidosis begins with the identification of clinical features, electrocardiographic and imaging findings suggestive or compatible with cardiac amyloidosis, and often requires the histological demonstration of amyloid deposition. One approach to overcome the difficulty of an early diagnosis is the use of automated diagnostic algorithms. Machine learning enables the automatic extraction of salient information from "raw data" without the need for pre-processing methods based on the a priori knowledge of the human operator. This review attempts to assess the various diagnostic approaches and artificial intelligence computational techniques in the detection of cardiac amyloidosis.
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Quantitative PYP metrics: separating the wheat from the chaff.
J Nucl Cardiol -
Heart Rate and Rhythm in Cardiac Amyloidosis.
Trends Cardiovasc Med2023 Mar;():. doi: S1050-1738(23)00038-5.
Sperry Brett W, Sandesara Uttsav, Kline Jessica,
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Outcomes for patients with systemic light chain amyloidosis and Mayo stage 3B disease.
Hematol Oncol2023 Mar;():. doi: 10.1002/hon.3135.
Theodorakakou Foteini, Briasoulis Alexandros, Fotiou Despina, Petropoulos Ioannis, Georgiopoulos Georgios, Lama Niki, Kelekis Nikolaos, Repasos Evangelos, Migkou Magdalini, Stamatelopoulos Kimon, Dimopoulos Meletios A, Kastritis Efstathios,
Abstract
Patients with cardiac light chain amyloidosis and Mayo stage 3b disease define a high-risk population with very poor prognosis. Here, we report treatment outcomes of 80 consecutive patients with newly diagnosed AL and Mayo 3b who received novel regimens. Early mortality (
© 2023 John Wiley & Sons Ltd.
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TTR Amyloidosis: Current State of Affairs and Promise for the Future.
JACC Case Rep2023 Mar;10():101759. doi: 101759.
Brailovsky Yevgeniy, Rajapreyar Indranee, Alvarez Rene,
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Transthyretin Amyloid Cardiomyopathy Risk Evaluation in a Cohort of Patients With Heart Failure.
Perm J2023 Mar;():1-10. doi: 10.7812/TPP/22.135.
Suh Angie A, Shaw Paul B, Jeong Mark Y, Olson Kari L, Delate Thomas,
Abstract
Introduction Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive, infiltrative form of heart failure (HF). Nevertheless, ATTR-CM is a largely underrecognized and misdiagnosed condition. This study's objective was to develop an efficient model to assess the chance of ATTR-CM in patients with HF. Methods This was an observational study of patients with HF who had a confirmed diagnosis of ATTR-CM and those with HF but without known ATTR-CM between January 1, 2019, and July 1, 2021. Patient characteristics were extracted from administrative and claims electronic databases and compared between the groups. A propensity score for having ATTR-CM was modeled. Samples of 50 control patients with the highest and lowest propensity scores were adjudicated to assess whether further workup to evaluate for ATTR-CM was warranted for each patient. The sensitivity and specificity of the model were calculated. Results Thirty-one patients with confirmed ATTR-CM and 7620 patients without known ATTR-CM were included in the study. Patients with ATTR-CM were more likely to be Black and to have atrial flutter/fibrillation, cardiomegaly, HF with preserved ejection fraction, pericardial effusion, carpal tunnel syndrome, joint disorders, and lumbar spinal stenosis and to use a diuretic (all p
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Screening approaches to cardiac amyloidosis in different clinical settings: Current practice and future perspectives.
Front Cardiovasc Med2023 ;10():1146725. doi: 1146725.
Caponetti Angelo Giuseppe, Accietto Antonella, Saturi Giulia, Ponziani Alberto, Sguazzotti Maurizio, Massa Paolo, Giovannetti Alessandro, Ditaranto Raffaello, Parisi Vanda, Leone Ornella, Guaraldi Pietro, Cortelli Pietro, Gagliardi Christian, Longhi Simone, Galiè Nazzareno, Biagini Elena,
Abstract
Cardiac amyloidosis is a serious and progressive infiltrative disease caused by the deposition of amyloid fibrils in the heart. In the last years, a significant increase in the diagnosis rate has been observed owing to a greater awareness of its broad clinical presentation. Cardiac amyloidosis is frequently associated to specific clinical and instrumental features, so called "red flags", and it appears to occur more commonly in particular clinical settings such as multidistrict orthopedic conditions, aortic valve stenosis, heart failure with preserved or mildly reduced ejection fraction, arrhythmias, plasma cell disorders. Multimodality approach and new developed techniques such PET fluorine tracers or artificial intelligence may contribute to strike up extensive screening programs for an early recognition of the disease.
© 2023 Caponetti, Accietto, Saturi, Ponziani, Sguazzotti, Massa, Giovannetti, Ditaranto, Parisi, Leone, Guaraldi, Cortelli, Gagliardi, Longhi, Galiè and Biagini.
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NEW-ONSET CARDIAC AMYLOIDOSIS WHILE IN REMISSION FROM SYSTEMIC AL AMYLOIDOSIS.
Eur J Case Rep Intern Med2023 ;10(2):003768. doi: 003768.
Idowu Abiodun, Tung Lillian, Chu Catherine, Skeete Jamario, Paner Agne, Okwuosa Tochukwu,
Abstract
UNLABELLED:
In light chain amyloidosis, a reduction in dFLC to below 40 mg/l is a prerequisite for organ recovery as nearly half of the patients who achieve very good partial haematological responses have improvement in the function of the involved organ. We describe a patient who developed new-onset cardiac amyloidosis despite a post-treatment reduction in dFLC to
LEARNING POINTS:
Patients with light chain (AL) amyloidosis may develop new cardiac involvement despite achieving haematological remission.In patients with AL amyloidosis, a very good partial haematological response (dFLC
© EFIM 2023.
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Left atrial intramural haematoma: a fatal complication of cardiac amyloidosis-a case report.
Eur Heart J Case Rep2023 Mar;7(3):ytad116. doi: ytad116.
Terashima Rika, Nakagawa Takashi, Hara Hisao, Hiroi Yukio,
Abstract
BACKGROUND:
Spontaneous left atrial intramural hematoma (LAIH) is extremely rare and there are only two cases of spontaneous LAIH involving cardiac amyloidosis (CA) reported in literature. In both cases, LAIH rapidly compromised hemodynamic stability proving to be a rare yet fatal complication.
CASE SUMMARY:
An 83-year-old man presented with cardiogenic shock. Electrocardiogram showed complete atrioventricular block, and echocardiogram revealed severe hypokinesis and left ventricular hypertrophy. Coronary angiography revealed no significant coronary stenosis and tissue biopsy was taken from the left ventricle. The patient was intubated, placed on extracorporeal membrane oxygenation with intra-aortic balloon pump and temporary pacemaker, and admitted to ICU. Day 6 of admission, he became hemodynamically unstable, and presented with atrial fibrillation. Transesophageal echocardiography showed a newly formed large mass in the left atrium. Day 11 of admission, the patient passed away. Autopsy revealed cardiac amyloidosis and showed the mass to be a left atrial intramural hematoma. Diffuse amyloid deposits were found in the myocardium as well as the blood vessel walls of the region surrounding the LAIH.
CONCLUSION:
LAIH is a rare yet fatal complication of CA. Autopsy revealed diffuse amyloid deposits within the left atrium may lead to left atrial fragility and contribute to development of LAIH. LAIH should be considered as an important differential diagnosis in the setting of a rapidly growing left atrial mass, and in hemodynamic instability in patients with CA.
© The Author(s) 2023. Published by Oxford University Press on behalf of the European Society of Cardiology.
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Amyloidosis of the Heart: A Comprehensive Review.
Cureus2023 Feb;15(2):e35264. doi: e35264.
Imdad Urooj,
Abstract
Cardiac amyloidosis is a progressive, infiltrative cardiomyopathy, whose types are based on various infiltrating amyloids, namely, light chains in primary amyloidosis, mutated transthyretin proteins in hereditary amyloidosis, and wild-type transthyretin proteins in senile amyloidosis. While cardiac amyloidosis has a non-specific presentation, the type-specific presentations may provide some clues to the diagnosis. While tissue biopsy remains the gold standard, other newer non-invasive methods can aid in the diagnostic approach for suspected cardiac amyloidosis. Various medications used to treat heart failure may lead to adverse outcomes in patients with cardiac amyloidosis. More research is needed to understand the adequate management and treatment of cardiac amyloidosis.
Copyright © 2023, Imdad et al.
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Cellular environment of TTR deposits in an animal model of ATTR-Cardiomyopathy.
Front Mol Biosci2023 ;10():1144049. doi: 1144049.
Teixeira Cristina, Martins Helena Sofia, Saraiva Maria João,
Abstract
Cardiac amyloidoses are the most fatal manifestation of systemic amyloidoses. It is believed the number of cases to be greatly underestimated mostly due to misdiagnosis. Particularly, the involvement of TTR V30M in the heart of ATTRV30M amyloidosis has not been completely understood specifically in terms of implicated cellular pathways, heart function and cardiac physiology. In the present work we proposed to characterize TTR V30M cardiac involvement particularly at the tissue cellular level in a mouse model. HSF ± hTTR V30M mice, a model that expresses human TTRV30M in a Ttr null background, widely used for the characterization and modulation of neurological features of ATTRV30M amyloidosis was used. SDS-PAGE of cardiac homogenates followed by Western blot was performed. Immunohistochemistry and double immunofluorescence analyses were carried out to determine TTR deposition pattern and sub-localization. Western blots were able to detect TTR in its monomeric state at ?14 kDa. Immunofluorescent images showed TTR was found mostly in the intercellular spaces. Blood contamination was excluded by CD31 staining. Tissues were Congo Red negative. Upon TTR and macrophages (CD68) staining in the cardiac tissue a clear tendency of macrophage convergence to the tissue regions where TTR was more abundant was observed. Moreover, in some instances it was possible to detect co-localization of both fluorophores. Cardiac fibroblasts were stained with PDGFr-alpha, and here the co-localization was not so evident although there was some degree of co-occurrence. The hearts of transgenic mice revealed higher content of Galectin-3. This animal model and associated features observed as result of cardiac TTR deposition provide a promising and invaluable research tool for a better understanding of the implicated pathways that lead to the lethality associated to TTR cardiac amyloidosis. New therapeutic strategies can be tested and ultimately this will lead to improved treatment alternatives capable of increasing patient's quality of life and life expectancy and, hopefully to eradicate a condition that is silently spreading worldwide.
Copyright © 2023 Teixeira, Martins and Saraiva.
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NSUN3-mediated mitochondrial tRNA 5-formylcytidine modification is essential for embryonic development and respiratory complexes in mice.
Commun Biol2023 Mar;6(1):307. doi: 307.
Murakami Yoshitaka, Wei Fan-Yan, Kawamura Yoshimi, Horiguchi Haruki, Kadomatsu Tsuyoshi, Miyata Keishi, Miura Kyoko, Oike Yuichi, Ando Yukio, Ueda Mitsuharu, Tomizawa Kazuhito, Chujo Takeshi,
Abstract
In mammalian mitochondria, translation of the AUA codon is supported by 5-formylcytidine (fC) modification in the mitochondrial methionine tRNA anticodon. The 5-formylation is initiated by NSUN3 methylase. Human NSUN3 mutations are associated with mitochondrial diseases. Here we show that Nsun3 is essential for embryonic development in mice with whole-body Nsun3 knockout embryos dying between E10.5 and E12.5. To determine the functions of NSUN3 in adult tissue, we generated heart-specific Nsun3 knockout (Nsun3) mice. Nsun3 heart mitochondria were enlarged and contained fragmented cristae. Nsun3 resulted in enhanced heart contraction and age-associated mild heart enlargement. In the Nsun3 hearts, mitochondrial mRNAs that encode respiratory complex subunits were not down regulated, but the enzymatic activities of the respiratory complexes decreased, especially in older mice. Our study emphasizes that mitochondrial tRNA anticodon modification is essential for mammalian embryonic development and shows that tissue-specific loss of a single mitochondrial tRNA modification can induce tissue aberration that worsens in later adulthood.
© 2023. The Author(s).
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Tc-99m labelled bone scintigraphy in suspected cardiac amyloidosis.
Eur Heart J2023 Mar;():. doi: ehad139.
Rauf Muhammad Umaid, Hawkins Philip N, Cappelli Francesco, Perfetto Federico, Zampieri Mattia, Argiro Alessia, Petrie Aviva, Law Steven, Porcari Aldostefano, Razvi Yousuf, Bomsztyk Joshua, Ravichandran Sriram, Ioannou Adam, Patel Rishi, Starr Neasa, Hutt David F, Mahmood Shameem, Wisniowski Brendan, Martinez-Naharro Ana, Venneri Lucia, Whelan Carol, Roczenio Dorota, Gilbertson Janet, Lachmann Helen J, Wechalekar Ashutosh D, Rapezzi Claudio, Serenelli Matteo, Massa Paolo, Caponetti Angelo Giuseppe, Ponziani Alberto, Accietto Antonella, Giovannetti Alessandro, Saturi Giulia, Sguazzotti Maurizio, Gagliardi Christian, Biagini Elena, Longhi Simone, Fontana Marianna, Gillmore Julian D,
Abstract
AIMS:
To perform evaluation of widely embraced bone scintigraphy-based non-biopsy diagnostic criteria (NBDC) for ATTR amyloid cardiomyopathy (ATTR-CM) in clinical practice, and to refine serum free light chain (sFLC) ratio cut-offs that reliably exclude monoclonal gammopathy (MG) in chronic kidney disease.
METHODS AND RESULTS:
A multi-national retrospective study of 3354 patients with suspected or histologically proven cardiac amyloidosis (CA) referred to specialist centres from 2015 to 2021; evaluations included radionuclide bone scintigraphy, serum and urine immunofixation, sFLC assay, eGFR measurement and echocardiography. Seventy-nine percent (1636/2080) of patients with Perugini grade 2 or 3 radionuclide scans fulfilled NBDC for ATTR-CM through absence of a serum or urine monoclonal protein on immunofixation together with a sFLC ratio falling within revised cut-offs incorporating eGFR; 403 of these patients had amyloid on biopsy, all of which were ATTR type, and their survival was comparable to non-biopsied ATTR-CM patients (p = 0.10). Grade 0 radionuclide scans were present in 1091 patients, of whom 284 (26%) had CA, confirmed as AL type (AL-CA) in 276 (97%) and as ATTR-CM in only one case with an extremely rare TTR variant. Among 183 patients with grade 1 radionuclide scans, 122 had MG of whom 106 (87%) had AL-CA; 60/61 (98%) without MG had ATTR-CM.
CONCLUSION:
The NBDC for ATTR-CM are highly specific [97% (95% CI 0.91-0.99)] in clinical setting, and diagnostic performance was further refined here using new cut-offs for sFLC ratio in patients with CKD. A grade 0 radionuclide scan all but excludes ATTR-CM but occurs in most patients with AL-CA. Grade 1 scans in patients with CA and no MG are strongly suggestive of early ATTR-type, but require urgent histologic corroboration.
© The Author(s) 2023. Published by Oxford University Press on behalf of the European Society of Cardiology.
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Health-related quality of life among transthyretin amyloid cardiomyopathy patients.
ESC Heart Fail2023 Mar;():. doi: 10.1002/ehf2.14350.
Eldhagen Per, Lehtonen Jukka, Gude Einar, Gustafsson Finn, Bagger-Bahnsen Anne, Vakevainen Merja, Pilgaard Trine, Wedell-Wedellsborg Dorte, Poulsen Steen Hvitfeldt, ,
Abstract
AIMS:
Transthyretin amyloid cardiomyopathy (ATTR CM) is a progressive and severe heart disease with physical and psychological implications. The Nordic PROACT study was conducted to investigate the health-related quality of life (HRQoL) in ATTR CM patients.
METHODS AND RESULTS:
The Nordic PROACT study was a cross-sectional non-interventional study conducted in 12 cardiology hospital clinics across Norway, Sweden, Finland and Denmark. Men and women aged ?18 years diagnosed with symptomatic ATTR CM were included. The investigator provided information on medical history, biomarkers, current treatment, co-morbidities and disease severity according to the New York Heart Association (NYHA) class and the National Amyloidosis Centre (NAC) staging. Patients completed the HRQoL questionnaires in the form of the Kansas City Cardiomyopathy Questionnaire (KCCQ), the EQ-5D-5L index with Visual Analog Scale (VAS), and the Major Depression Inventory (MDI). A total of 169 patients (mean ± SD age 77.7 ± 6.2 years) were included. Ninety-two per cent were men. Seventy-six per cent had wildtype ATTR CM (ATTRwt CM) and 15% had a hereditary form of ATTR CM (ATTRv CM) while 9% were genetically unclassified. Most patients were in NYHA class II (54%) and NAC stage 1 (53%). Participation in randomized clinical trials (RCT) was noted in 58% of the patients. The 169 ATTR CM patients had a mean ± SD KCCQ score of 64.3 ± 23.1 for total symptom score, 64.8 ± 20.9 for overall summary score (OSS) and 65.1 ± 21.5 for clinical summary score. The EQ-5D-5L total utility score was 0.8 ± 0.2 and the EQ-5D-5L VAS score was 62.9 ± 20.6. The vast majority (89%) did not report any signs of depression. Patients with ATTRv CM had a higher KCCQ OSS as compared with ATTRwt CM, while EQ-5D-5L utility score, EQ-5D-5L VAS and MDI were similar. Non-RCT participants had a poorer HRQoL as compared with RCT participants as reflected in lower KCCQ OSS and EQ-5D-5L VAS scores and a higher MDI score. Patients with higher NYHA classes and NAC disease stages had a poorer HRQoL as demonstrated by lower KCCQ and EQ-5D-5L scores and higher MDI scores. Correlation between KCCQ, EQ-5D-5L and MDI and the covariate NYHA class remained significant (P
CONCLUSIONS:
KCCQ scores were lower than previously reported for patients with other heart diseases of non-ATTR CM origin. The HRQoL measures correlated well to NYHA class and NAC disease stage. The prevalence of depression appeared to be low.
© 2023 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.
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Emerging Therapies for Transthyretin Amyloidosis.
Curr Oncol Rep2023 Mar;():. doi: 10.1007/s11912-023-01397-2.
Tsoi Melissa R, Lin Jeffrey H, Patel Ayan R,
Abstract
PURPOSE OF REVIEW:
This review provides an overview of the available therapies for treating neuropathic and/or cardiac manifestations of transthyretin amyloidosis (ATTR), as well as investigational therapeutic agents in ongoing clinical trials. We discuss additional emergent approaches towards thwarting this life-threatening disease that until recently was considered virtually untreatable.
RECENT FINDINGS:
Advances in noninvasive diagnostic methods for detecting ATTR have facilitated easier diagnosis and detection at an earlier stage of disease when therapeutic interventions are likely to be more effective. There are now several ATTR-directed treatments that are clinically available, as well as investigational agents that are being studied in clinical trials. Therapeutic strategies include tetramer stabilization, gene silencing, and fibril disruption. ATTR has been historically underdiagnosed. With advances in diagnostic methods and the advent of disease-modifying treatments, early diagnosis and initiation of treatment is revolutionizing management of this disease.
© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
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Phenotypes Associated With the Val122Ile, Leu58His, and Late-Onset Val30Met Variants in Patients With Hereditary Transthyretin Amyloidosis.
Neurology2023 Mar;():. doi: 10.1212/WNL.0000000000207158.
Zampino Serena, Sheikh Farooq H, Vaishnav Joban, Judge Daniel, Pan Baohan, Daniel Amrita, Brown Emily, Ebenezer Gigi, Polydefkis Michael,
Abstract
BACKGROUND AND OBJECTIVES:
hATTR is a rare autosomal-dominant systemic disease with variable penetrance and heterogeneous clinical presentation. Several effective treatments can reduce mortality and disability, though diagnosis remains challenging, especially in the US where disease is non-endemic. Our aim is to describe the neurologic and cardiac characteristics of common US ATTR variants V122I, L58H and late-onset V30M at presentation.
METHODS:
We conducted a retrospective case series of patients with a new diagnosis of ATTRv between January 2008 and January 2020 to characterize features of prominent US variants The neurological (examination, EMG, skin biopsy), cardiac (echo) and laboratory assessments (proBNP, reversible neuropathy screens) are described.
RESULTS:
56 patients with treatment-naïve ATTRv with symptoms/signs of peripheral neuropathy or cardiomyopathy and confirmatory genetic testing presenting with Val122Ile (N=31), late-onset Val30Met (N=12) and Leu58His ATTRv (N=13) were included. The age at onset and gender distributions were similar (V122I: 71.5±8.0, V30M: 64.8±2.6, L58H: 62.4±9.8years; 26, 25, 31% female).Only 10% of patients with V122I and 17% of patients with V30M were aware of an ATTRv family history, while 69% of patients with L58H were. Peripheral neuropathy was present in all three variants at diagnosis (90, 100, 100%) though neurological impairment scores differed: V122I: 22±16, V30M: 61±31 and L58H: 57±25. Most points (deficits) were attributed to loss of strength. Carpal tunnel syndrome (CTS) and a positive Romberg sign were common across all groups (V122I: 97%, 39%; V30M: 58%, 58%; L58H: 77%, 77%).ProBNP levels and interventricular septum thickness were highest among patients with V122I (5939±962pg/mL, 1.70±0.29cm) followed by V30M (796±970pg/mL, 1.42±0.38cm) and L58H (404±677pg/mL, 1.23±0.36cm). Atrial fibrillation was present among 39% of V122I cases and only 8% of V30M and L58H cases. Gastrointestinal symptoms were rare (6%) among patients with V122I and common in patients with V30M (42%) and L58H (54%).
DISCUSSION:
Important clinical differences exist between ATTRv genotypes. While V122I is perceived to be a cardiac disease, peripheral neuropathy is common and clinically relevant. Most patients with V30M and V122I were diagnosed de-novo and therefore require clinical suspicion for diagnosis.A history of CTS and a positive Romberg sign are helpful diagnostic clues.
© 2023 American Academy of Neurology.
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Clinical Characteristics and Outcomes of Cyclin D1-Positive AL Amyloidosis.
Am J Clin Pathol2023 Mar;():. doi: aqad013.
Tsushima Takafumi, Terao Toshiki, Narita Kentaro, Fukumoto Ami, Ikeda Daisuke, Kamura Yuya, Kuzume Ayumi, Tabata Rikako, Miura Daisuke, Takeuchi Masami, Matsue Kosei,
Abstract
OBJECTIVES:
To demonstrate the clinical features and prognostic impact of cyclin D1 positivity in patients with amyloid light chain amyloidosis (AL).
METHODS:
We consecutively included 71 patients diagnosed with AL with cyclin D1 positivity between February 2008 and January 2022. t(11;14) was examined through interphase fluorescence in situ hybridization using bone marrow cells.
RESULTS:
The median age of the patients was 73 years, and 53.5% were male. The underlying diseases included symptomatic multiple myeloma, smoldering multiple myeloma, Waldenström macroglobulinemia, and monoclonal gammopathy of undetermined significance, representing 33.8%, 26.8%, 2.8%, and 36.6%, respectively. The prevalence of cyclin D1 and t(11;14) was 38.0% and 34.7%, respectively. Higher frequency of light chain paraprotein type was seen in cyclin D1-positive patients with AL than in cyclin D1-negative patients (70.4% vs 18.2%). The median overall survival (OS) of patients with AL with and without cyclin D1 expression was 18.9 months and 73.1 months, respectively (P = .019). Early death occurred in 44.4% of cyclin D1-positive patients and 31.8% of cyclin D1-negative patients. Moreover, 83.3% of cyclin D1-positive patients and 21.4% of cyclin D1-negative patients died of cardiac causes.
CONCLUSIONS:
Cyclin D1 immunohistochemistry accurately identified patients with t(11;14). Cyclin D1-positive patients had significantly inferior OS compared with cyclin D1-negative patients.
© The Author(s) 2023. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
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Management of Heart Failure With Preserved Ejection Fraction in Elderly Patients: Effectiveness and Safety.
Cureus2023 Feb;15(2):e35030. doi: e35030.
Elkammash Amr, Tam Simpson Shiu Chung, Yogarajah Geethana, You Jianing,
Abstract
The proportion of the elderly population continues to increase due to the global increase in longevity. Heart failure with preserved ejection fraction (HFpEF) is common in the elderly due to cellular aging, myocardial stiffness, and multiple comorbidities. This age group is often under-represented in clinical trials. In this narrative review, we looked into the latest evidence-based lines of management of HFpEF in this vulnerable cohort. In this narrative review, we brought the latest evidence on the treatment of HFpEf in the elderly. We searched the largest three scientific databases (Pubmed, Google Scholar, and EMBASE) using the search words (elderly, HFpEF, heart failure with preserved ejection fraction, guidelines, treatment, and management) in different combinations. To date, screening for and treatment of the causes of HFpEF (such as hypertension, coronary artery disease [CAD], valvular heart disease, and cardiac amyloidosis) and associated comorbidities (such as diabetes mellitus [DM], iron deficiency, obesity, and thyroid dysfunction) are the main line of management of HFpEF. A multidisciplinary team, including an HF specialist cardiologist, an HF nurse, a geriatrician, a dietician, a psychologist, a physiotherapist, and an occupational therapist, should manage HFpEF elderly patients. Other specialist input may be needed according to the patient's requirements. The evidence on the effective management of HFpEF in the elderly age group is scarce and controversial. Some studied non-pharmacological approaches include supervised exercise training, pulmonary artery pressure monitoring, and the interatrial shunt device (an emerging modality that includes a small percutaneously inserted interatrial left to right valve aiming to reduce the left atrial and pulmonary wedge pressures). These modalities can only improve the symptoms and HF hospitalizations without robustly impacting cardiovascular (CV) death. Among the pharmacological approaches to treat HFpEF, only the sodium-glucose cotransporter 2 (SGLT-2) inhibitors proved efficacy in reducing the hard outcomes of CV death, HF hospitalizations, and urgent visits for HF when used in elderly HFpEF patients, irrespective of the presence of diabetes mellitus. Diuretics are only beneficial to alleviate the symptoms of fluid overload, with a risk of renal impairment in volume-depleted patients. The evidence on the effectiveness of other HF-specific disease-modifying agents in elderly HFpEF patients is controversial. Elderly patients have a higher risk of having side effects from HF medications due to the higher prevalence of polypharmacy, cognitive decline, and impairment of kidney and liver functions. Therefore, cautious initiation of HF treatment with a close follow-up of the blood pressure, liver functions, kidney functions, and electrolytes are of utmost importance.
Copyright © 2023, Elkammash et al.
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