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Advancements in Diagnosis and Management of Hypertrophic Cardiomyopathy and Amyloidosis
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Advancements in Diagnosis and Management of Hypertrophic Cardiomyopathy and Amyloidosis

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Cardiology".

Deadline for manuscript submissions: closed (31 March 2024) | Viewed by 7386

Special Issue Editor

Dr. Ahmed Abuzaid

E-Mail Website
Guest Editor
Department of Medicine, Division of Cardiovascular Medicine, Jefferson University Hospital/Christiana Care Health System, Newark, DE 19713, USA
Interests: cardiovascular disease; cardiovascular disease general; noninvasive and advanced cardiac imaging

Special Issue Information

Dear Colleagues,

This Special Issue delves into the latest developments in the diagnosis and management of two significant cardiovascular disorders: hypertrophic cardiomyopathy (HCM) and amyloidosis. HCM is characterized by abnormal thickening of the heart muscle, while amyloidosis involves the accumulation of amyloid proteins in various organs, including the heart. The 100-word summary highlights the emerging diagnostic techniques, therapeutic interventions, and prognostic factors for these conditions. Key topics include genetic testing, imaging modalities, risk stratification, novel treatment options, and the impact of early detection on patient outcomes. The aim is to provide clinicians and researchers with a comprehensive understanding of HCM and amyloidosis to enhance patient care and improve long-term prognosis.

Dr. Ahmed Abuzaid
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • hypertrophic cardiomyopathy
  • amyloidosis
  • diagnosis
  • management
  • genetic testing
  • imaging techniques
  • risk stratification
  • treatment options
  • early detection
  • prognosis

Published Papers (7 papers)

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Research

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11 pages, 1843 KiB  
Article
Systemic Vascular Resistance and Myocardial Work Analysis in Hypertrophic Cardiomyopathy and Transthyretin Cardiac Amyloidosis with Preserved Left Ventricular Ejection Fraction
by Cesare de Gregorio, Giancarlo Trimarchi, Denise Cristiana Faro, Cristina Poleggi, Lucio Teresi, Fabrizio De Gaetano, Concetta Zito, Francesca Lofrumento, Ioanna Koniari, Roberto Licordari, Nicholas G. Kounis, Ines Paola Monte and Gianluca Di Bella
J. Clin. Med. 2024, 13(6), 1671; https://doi.org/10.3390/jcm13061671 - 14 Mar 2024
Viewed by 492
Abstract
Background: The pathophysiological impact of systemic vascular resistance (SVR) and pressure–strain loop-derived global myocardial work index (GWI) in hypertrophic cardiomyopathy (HCM) and transthyretin cardiac amyloidosis (ATTR) has been randomly investigated. Methods: Both SVR and GWI were assessed in outpatients consecutively referred [...] Read more.
Background: The pathophysiological impact of systemic vascular resistance (SVR) and pressure–strain loop-derived global myocardial work index (GWI) in hypertrophic cardiomyopathy (HCM) and transthyretin cardiac amyloidosis (ATTR) has been randomly investigated. Methods: Both SVR and GWI were assessed in outpatients consecutively referred at two Italian cardiology departments for heart failure with preserved left ventricular ejection fraction (LVEF), affected by either nonobstructive HCM or wild-type ATTR. Based on relevant cross-tabulations, the patients were gathered into 4 functional classes according to cut-off values of 1440 dyne/s/cm−5 for SVR, and 1576 mm Hg% for GWI, as suggested by previous studies. Results: A total of 60 patients, 30 in each group, aged 61 ± 16 years, with 78% males, were studied. HCM patients were younger than those with ATTR and in a better clinical condition (23% HCM vs. 77% ATTR were NYHA class II-III, p < 0.001). Overall, 51 patients (85%) showed a high SVR, 21/30 HCM (70%), and 30 ATTR (100%) (p < 0.005). Both SVR and GWI (expressions of ventricular–arterial coupling) were impaired in 43% of HCM patients (showing greater LV concentric hypertrophy) and 93% of ATTR patients (in advanced NYHA functional class) (p < 0.001). Conclusions: A substantial percentage of present study population showed impaired SVR and/or GWI, despite preserved LVEF. The proposed classification may shed further light on the pathophysiological and clinical characteristics of such hypertrophic phenotypes. Full article
(This article belongs to the Special Issue Advancements in Diagnosis and Management of Hypertrophic Cardiomyopathy and Amyloidosis)
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18 pages, 1486 KiB  
Article
Cardio-Hepatic Interaction in Cardiac Amyloidosis
by Sandra Michaela Ihne-Schubert, Oliver Goetze, Felix Gerstendörfer, Floran Sahiti, Ina Schade, Aikaterini Papagianni, Caroline Morbach, Stefan Frantz, Hermann Einsele, Stefan Knop, Claudia Sommer, Beat Müllhaupt, Torben Schubert, Stefan Störk and Andreas Geier
J. Clin. Med. 2024, 13(5), 1440; https://doi.org/10.3390/jcm13051440 - 01 Mar 2024
Viewed by 580
Abstract
Background: Congestion is associated with poor prognosis in cardiac amyloidosis (CA). The cardio-hepatic interaction and the prognostic impact of secondary liver affection by cardiac congestion in CA are poorly understood and require further characterisation. Methods: Participants of the amyloidosis cohort study AmyKoS at [...] Read more.
Background: Congestion is associated with poor prognosis in cardiac amyloidosis (CA). The cardio-hepatic interaction and the prognostic impact of secondary liver affection by cardiac congestion in CA are poorly understood and require further characterisation. Methods: Participants of the amyloidosis cohort study AmyKoS at the Interdisciplinary Amyloidosis Centre of Northern Bavaria with proven transthyretin (ATTR-CA) and light chain CA (AL-CA) underwent serial work-up including laboratory tests, echocardiography, and in-depth hepatic assessment by vibration-controlled transient elastography (VCTE) and 13C-methacetin breath test. Results: In total, 74 patients with AL-CA (n = 17), ATTR-CA (n = 26) and the controls (n = 31) were analysed. ATTR-CA patients showed decreased microsomal liver function expressed by maximal percentage of dose rate (PDRpeak) related to hepatic congestion. Reduced PDRpeak in AL-CA could result from altered pharmacokinetics due to changed hepatic blood flow. Liver stiffness as a combined surrogate of chronic liver damage and congestion was identified as a predictor of all-cause mortality. Statistical modelling of the cardio-hepatic interaction revealed septum thickness, NT-proBNP and PDRpeak as predictors of liver stiffness in both CA subtypes; dilatation of liver veins and the fibrosis score FIB-4 were only significant for ATTR-CA. Conclusions: Non-invasive methods allow us to characterise CA-associated hepatic pathophysiology. Liver stiffness might be promising for risk stratification in CA. Full article
(This article belongs to the Special Issue Advancements in Diagnosis and Management of Hypertrophic Cardiomyopathy and Amyloidosis)
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15 pages, 3056 KiB  
Article
Improving a Deep Learning Model to Accurately Diagnose LVNC
by Jaime Rafael Barón, Gregorio Bernabé, Pilar González-Férez, José Manuel García, Guillem Casas and Josefa González-Carrillo
J. Clin. Med. 2023, 12(24), 7633; https://doi.org/10.3390/jcm12247633 - 12 Dec 2023
Viewed by 853
Abstract
Accurate diagnosis of Left Ventricular Noncompaction Cardiomyopathy (LVNC) is critical for proper patient treatment but remains challenging. This work improves LVNC detection by improving left ventricle segmentation in cardiac MR images. Trabeculated left ventricle indicates LVNC, but automatic segmentation is difficult. We present [...] Read more.
Accurate diagnosis of Left Ventricular Noncompaction Cardiomyopathy (LVNC) is critical for proper patient treatment but remains challenging. This work improves LVNC detection by improving left ventricle segmentation in cardiac MR images. Trabeculated left ventricle indicates LVNC, but automatic segmentation is difficult. We present techniques to improve segmentation and evaluate their impact on LVNC diagnosis. Three main methods are introduced: (1) using full 800 × 800 MR images rather than 512 × 512; (2) a clustering algorithm to eliminate neural network hallucinations; (3) advanced network architectures including Attention U-Net, MSA-UNet, and U-Net++.Experiments utilize cardiac MR datasets from three different hospitals. U-Net++ achieves the best segmentation performance using 800 × 800 images, and it improves the mean segmentation Dice score by 0.02 over the baseline U-Net, the clustering algorithm improves the mean Dice score by 0.06 on the images it affected, and the U-Net++ provides an additional 0.02 mean Dice score over the baseline U-Net. For LVNC diagnosis, U-Net++ achieves 0.896 accuracy, 0.907 precision, and 0.912 F1-score outperforming the baseline U-Net. Proposed techniques enhance LVNC detection, but differences between hospitals reveal problems in improving generalization. This work provides validated methods for precise LVNC diagnosis. Full article
(This article belongs to the Special Issue Advancements in Diagnosis and Management of Hypertrophic Cardiomyopathy and Amyloidosis)
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13 pages, 699 KiB  
Article
Prognostic Value of Holter Monitoring in Light Chain Amyloidosis
by Yutong Sun, Qinghao Zhao, Yang Liu, Lei Wen, Xuelin Dou, Jin Lu and Jian Liu
J. Clin. Med. 2023, 12(23), 7457; https://doi.org/10.3390/jcm12237457 - 01 Dec 2023
Viewed by 708
Abstract
(1) Background: To evaluate the predictive value of Holter monitoring for overall survival (OS) of patients with light chain amyloidosis (AL amyloidosis). (2) Methods: 137 patients with newly diagnosed AL amyloidosis who underwent Holter monitoring within 6 months of diagnosis were included. The [...] Read more.
(1) Background: To evaluate the predictive value of Holter monitoring for overall survival (OS) of patients with light chain amyloidosis (AL amyloidosis). (2) Methods: 137 patients with newly diagnosed AL amyloidosis who underwent Holter monitoring within 6 months of diagnosis were included. The primary outcome was OS. Landmark analysis was conducted at one-year follow-up. Independent predictors were determined using the log-rank test and multivariate Cox regression analysis. (3) Results: 131 (95.6%) patients received non-transplant therapy, and 32 (23.4%) underwent daratumumab-based chemotherapy. After a median follow-up of 20.3 months, 47 deaths occurred. Atrial tachycardia (AT), conduction delay, and non-sustained ventricular tachycardia (NSVT) were associated with poor OS one year beyond diagnosis in univariate analyses (patients with vs. without AT: 57.3% [95% confidence interval (CI): 47.2–67.4] vs. 81.0% (95% CI: 74.8–87.2), p = 0.039; patients with vs. without NSVT: 33.3% (95% CI: 8.5–58.1) vs. 75.3% (95% CI: 69.8–80.8), p = 0.024; patients with vs. without conduction delay: 41.7% (95% CI: 24.4–59.0) vs. 75.4% (95% CI: 69.7–81.1), p = 0.003]. AT [hazard ratio (HR): 2.6; 95% CI: 1.0–6.5; p = 0.049) and conduction delay (HR: 4.3; 95% CI: 1.3–14.3; p = 0.016) were independent predictors of OS after accounting for age and 2012 Mayo stage. (4) Conclusion: AT and conduction delay in Holter monitoring are independent predictors of poor OS one year beyond diagnosis in AL amyloidosis. Full article
(This article belongs to the Special Issue Advancements in Diagnosis and Management of Hypertrophic Cardiomyopathy and Amyloidosis)
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Review

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25 pages, 4693 KiB  
Review
Advances in Multi-Modality Imaging in Hypertrophic Cardiomyopathy
by Fraser C. Goldie, Matthew M. Y. Lee, Caroline J. Coats and Sabrina Nordin
J. Clin. Med. 2024, 13(3), 842; https://doi.org/10.3390/jcm13030842 - 01 Feb 2024
Viewed by 1275
Abstract
Hypertrophic cardiomyopathy (HCM) is characterized by abnormal growth of the myocardium with myofilament disarray and myocardial hyper-contractility, leading to left ventricular hypertrophy and fibrosis. Where culprit genes are identified, they typically relate to cardiomyocyte sarcomere structure and function. Multi-modality imaging plays a crucial [...] Read more.
Hypertrophic cardiomyopathy (HCM) is characterized by abnormal growth of the myocardium with myofilament disarray and myocardial hyper-contractility, leading to left ventricular hypertrophy and fibrosis. Where culprit genes are identified, they typically relate to cardiomyocyte sarcomere structure and function. Multi-modality imaging plays a crucial role in the diagnosis, monitoring, and risk stratification of HCM, as well as in screening those at risk. Following the recent publication of the first European Society of Cardiology (ESC) cardiomyopathy guidelines, we build on previous reviews and explore the roles of electrocardiography, echocardiography, cardiac magnetic resonance (CMR), cardiac computed tomography (CT), and nuclear imaging. We examine each modality’s strengths along with their limitations in turn, and discuss how they can be used in isolation, or in combination, to facilitate a personalized approach to patient care, as well as providing key information and robust safety and efficacy evidence within new areas of research. Full article
(This article belongs to the Special Issue Advancements in Diagnosis and Management of Hypertrophic Cardiomyopathy and Amyloidosis)
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14 pages, 1447 KiB  
Review
Fabry Disease: More than a Phenocopy of Hypertrophic Cardiomyopathy
by Kamil Stankowski, Stefano Figliozzi, Vincenzo Battaglia, Federica Catapano, Marco Francone and Lorenzo Monti
J. Clin. Med. 2023, 12(22), 7061; https://doi.org/10.3390/jcm12227061 - 13 Nov 2023
Cited by 1 | Viewed by 1502
Abstract
Fabry disease (FD) is a genetic lysosomal storage disease with frequent cardiovascular involvement, whose presence is a major determinant of adverse clinical outcomes. As a potentially treatable cause of left ventricular hypertrophy (LVH) and heart failure with preserved ejection fraction, the early recognition [...] Read more.
Fabry disease (FD) is a genetic lysosomal storage disease with frequent cardiovascular involvement, whose presence is a major determinant of adverse clinical outcomes. As a potentially treatable cause of left ventricular hypertrophy (LVH) and heart failure with preserved ejection fraction, the early recognition of FD is crucial to initiate enzyme replacement therapy and improve long-term prognosis. Multimodality imaging plays a central role in the evaluation of patients with FD and helps in the differential diagnosis of other conditions presenting with LVH. In the present review, we explore the current applications of multimodality cardiac imaging, in particular echocardiography and cardiovascular magnetic resonance, in the diagnosis, prognostic assessment, and follow-up of patients with FD. Full article
(This article belongs to the Special Issue Advancements in Diagnosis and Management of Hypertrophic Cardiomyopathy and Amyloidosis)
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13 pages, 1391 KiB  
Review
Prevalence of Incidental Findings Suspicious for Transthyretin Cardiac Amyloidosis among Patients Undergoing Bone Scintigraphy: A Systematic Review and a Meta-Analysis
by Giorgio Treglia, Chiara Martinello, Francesco Dondi, Domenico Albano, Francesco Bertagna, Alessio Rizzo, Roberto C. Delgado Bolton, Gregorio Tersalvi, Barbara Muoio, Martin Riegger and Diego Cecchin
J. Clin. Med. 2023, 12(17), 5698; https://doi.org/10.3390/jcm12175698 - 01 Sep 2023
Cited by 2 | Viewed by 1104
Abstract
Background: The myocardial uptake of bone-seeking tracers suspicious for transthyretin cardiac amyloidosis (ATTR-CA) can be incidentally detected in patients undergoing bone scintigraphy for noncardiac reasons. We conducted a systematic review and meta-analysis to assess the prevalence of these scintigraphic findings. Methods: A comprehensive [...] Read more.
Background: The myocardial uptake of bone-seeking tracers suspicious for transthyretin cardiac amyloidosis (ATTR-CA) can be incidentally detected in patients undergoing bone scintigraphy for noncardiac reasons. We conducted a systematic review and meta-analysis to assess the prevalence of these scintigraphic findings. Methods: A comprehensive literature search was performed using two bibliographic databases (PubMed/MEDLINE and Cochrane Library), searching for articles related to the review question. Eligible articles were selected, and relevant data were extracted by two authors. The pooled prevalence of incidental findings suspicious for ATTR-CA among patients undergoing bone scintigraphy was calculated on a per-patient-based analysis using a random-effects model. The pooled measure was provided with 95% confidence interval (95% CI) values. Results: Among 219 records, 11 articles were selected for the systematic review and 10 for the meta-analysis. The pooled prevalence of incidental findings suspicious for ATTR-CA was 1.1% (95% CI: 0.7–1.4%) with heterogeneity due to the characteristics of the included studies, patients, and index tests. These findings are more prevalent in older men. Conclusions: The prevalence of incidental findings of ATTR-CA among patients undergoing bone scintigraphy is low but not negligible. Nuclear medicine physicians should suggest, in the scintigraphic report, further clinical investigations when these findings are detected. Prospective studies are warranted. Full article
(This article belongs to the Special Issue Advancements in Diagnosis and Management of Hypertrophic Cardiomyopathy and Amyloidosis)
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