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Advances in the Diagnosis and Treatment of Cardiomyopathy
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Advances in the Diagnosis and Treatment of Cardiomyopathy

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

Deadline for manuscript submissions: 25 July 2024 | Viewed by 3815

Special Issue Editors

Prof. Dr. Stefan Peters

E-Mail Website
Guest Editor
Head of Cardiological Department, Internal Medicine, UEK Norden, Norden, Germany
Interests: cardiomyopathy; interventional cardiology
Prof. Dr. Domenico Corrado

E-Mail Website
Co-Guest Editor
Department of Cardiac, Thoracic and Vascular Sciences and Public Health, University of Padova, Padova, Italy
Interests: cardiomyopathy; electrophysiologic evaluation; implantable cardioverter defibrillator; sudden arrhythmic death

Special Issue Information

Dear Colleagues,

Cardiomyopathy is of special interest in diagnosis and treatment. It has many special features: hypertrophic, dilated, restricted, and arrhythmogenic. Special types of cardiomyopathy include Takotsubo syndrome and the interplay of neurologic disorders and of Brugada syndrome-like features.

In hypertrophic cardiomyopathy, the role of echocardiography and cardiac MRI favors the diagnosis. Special interest exists in the new treatment option with myosin inhibitors. In dilated cardiomyopathy treatment, options exist with LVAD implantation. In arrhythmogenic cardiomyopathy the role of standard ECG to differentiate right dominant and left dominant arrhythmogenic cardiomyopathy is crucial. Additionally, the role of cardiac MRI to produce the same sort of differentiation can predict the outcome of patients. Restrictive cardiomyopathy is not easy to diagnose and, in a lot of cases, transplantation is the only treatment of choice. In Brugada syndrome, it is still questionable whether it is a depolarization or repolarization disorder, a structural disease, or an idiopathic channel disorder.

This Special Issue aims to publish contributions from distinguished authors with innovative experience in the field of cardiomyopathy. All researchers are invited to contribute original articles and reviews. 

Prof. Dr. Stefan Peters
Prof. Dr. Domenico Corrado
Guest Editors

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

  • cardiomyopathy
  • cardiac MRI
  • ECG
  • hypertrophic
  • dilated
  • arrhythmogenic
  • restricted
  • Brugada syndrome

Published Papers (4 papers)

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Research

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12 pages, 1212 KiB  
Article
Prognostic Value of Standard Heart Failure Medication in Patients with Cardiac Transthyretin Amyloidosis
by Fabian aus dem Siepen, Selina Hein, Eva Hofmann, Christian Nagel, Stéphanie K. Schwarting, Ute Hegenbart, Stefan O. Schönland, Markus Weiler, Norbert Frey and Arnt V. Kristen
J. Clin. Med. 2024, 13(8), 2257; https://doi.org/10.3390/jcm13082257 - 12 Apr 2024
Viewed by 229
Abstract
Introduction: Cardiac transthyretin amyloidosis (ATTR) is a progressive, fatal disease leading to heart failure due to accumulation of amyloid fibrils in the interstitial space and may occur as a hereditary (ATTRv) or wild-type (ATTRwt) form. Guidelines recommend the use of ACE inhibitors [...] Read more.
Introduction: Cardiac transthyretin amyloidosis (ATTR) is a progressive, fatal disease leading to heart failure due to accumulation of amyloid fibrils in the interstitial space and may occur as a hereditary (ATTRv) or wild-type (ATTRwt) form. Guidelines recommend the use of ACE inhibitors (ACEis) and beta-blockers (BBs) as heart failure therapy (HFT) in all patients with symptomatic heart failure and reduced ejection fraction, independent of the underlying etiology. However, the prognostic benefit of ACEis and BBs in ATTR has not been elucidated in detail yet. We thus sought to retrospectively investigate the outcome of patients with ATTRwt or ATTRv under HFT. Methods: Medical records of 403 patients with cardiac ATTR (ATTRwt: n = 268, ATTRv: n = 135) were screened for long-term medication as well as clinical, laboratory, electrocardiographic and echocardiographic data. Patients were assessed between 2005 and 2020 at the University Hospital Heidelberg. Kaplan–Meier analysis was used to analyze potential differences in survival among different subgroups. Results: The mean follow-up was 28 months. In total, 43 patients (32%) with ATTRv and 140 patients (52%) with ATTRwt received HFT. Survival was significantly shorter in patients receiving HFT in ATTRv (46 vs. 83 months, p = 0.0007) vs. non-HFT. A significantly better survival was observed in patients with comorbidities (coronary artery disease, arterial hypertension) and HFT among ATTRwt patients (p = 0.004). No significant differences in survival were observed in the other subgroups. Conclusions: Survival analysis revealed a potential benefit of HFT in patients with ATTRwt and cardiac comorbidities such as coronary artery disease and/or arterial hypertension. In contrast, HFT should be used with caution in patients with ATTRv. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Treatment of Cardiomyopathy)
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12 pages, 2069 KiB  
Article
Concealed Inherited Cardiomyopathies Detected in Cardio-Oncology Screening
by Rebeca Lorca, Isaac Pascual, Maria Fernandez, Rut Alvarez-Velasco, Santiago Colunga, Maria Muñiz, Marta Izquierdo, Yolanda Fernandez, Emilio Esteban, Juan Gomez, Pablo Avanzas and Teresa Lopez-Fernandez
J. Clin. Med. 2024, 13(1), 2; https://doi.org/10.3390/jcm13010002 - 19 Dec 2023
Cited by 1 | Viewed by 786
Abstract
Introduction: Basal cardiovascular risk assessment in cardio-oncology is essential. Integrating clinical information, ECG and transthoracic echocardiogram can identify concealed inherited cardiomyopathies (ICMPs) with potential added risk of cardiotoxicity. We aimed to evaluate the impact of our Cardio-Oncology Unit design in detecting concealed ICMPs. [...] Read more.
Introduction: Basal cardiovascular risk assessment in cardio-oncology is essential. Integrating clinical information, ECG and transthoracic echocardiogram can identify concealed inherited cardiomyopathies (ICMPs) with potential added risk of cardiotoxicity. We aimed to evaluate the impact of our Cardio-Oncology Unit design in detecting concealed ICMPs. Methods: We carried out a retrospective study of all consecutive breast cancer patients referred to the Cardio-Oncology Unit for cardiac evaluation (2020–2022). ICMPs diagnosis was provided according to ESC guidelines and underwent genetic testing. ICMPs prevalence in this cohort was compared to the highest and lowest frequency reported in the general population. Results: Among 591 breast cancer patients, we identified eight patients with ICMPs: one arrhythmogenic cardiomyopathy (ACM), three familial non-ischemic dilated cardiomyopathy (DCM), three hypertrophic cardiomyopathy (HCM) and one left ventricular non-compaction cardiomyopathy (LVNC), which has now been reclassified as non-dilated left ventricular cardiomyopathy. The number of ICMPs identified was within the expected range (neither overdiagnosed nor overlooked): ACM 0.0017 vs. 0.0002–0.001 (p 0.01–0.593); DCM 0.0051 vs. 0.002–0.0051 (p 0.094–0.676); HCM 0.005 vs. 0.0002–0.002 (p < 0.001–0.099); LVCN 0.0017 vs. 0.00014–0.013 (p 0.011–0.015). Genetic testing identified a pathogenic FLNC variant and two pathogenic TTN variants. Conclusion: Opportunistic screening of ICMPs during basal cardiovascular risk assessment can identify high-risk cancer patients who benefit from personalized medicine and enables extension of prevention strategies to all available relatives at concealed high cardiovascular risk. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Treatment of Cardiomyopathy)
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Review

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19 pages, 2893 KiB  
Review
Cardiac Sarcoidosis—Diagnostic and Therapeutic Challenges
by Dennis Korthals, Michael Bietenbeck, Hilke Könemann, Florian Doldi, David Ventura, Michael Schäfers, Michael Mohr, Julian Wolfes, Felix Wegner, Ali Yilmaz and Lars Eckardt
J. Clin. Med. 2024, 13(6), 1694; https://doi.org/10.3390/jcm13061694 - 15 Mar 2024
Viewed by 1257
Abstract
Sarcoidosis is a multisystem disorder of unknown etiology. The leading hypothesis involves an antigen-triggered dysregulated T-cell-driven immunologic response leading to non-necrotic granulomas. In cardiac sarcoidosis (CS), the inflammatory response can lead to fibrosis, culminating in clinical manifestations such as atrioventricular block and ventricular [...] Read more.
Sarcoidosis is a multisystem disorder of unknown etiology. The leading hypothesis involves an antigen-triggered dysregulated T-cell-driven immunologic response leading to non-necrotic granulomas. In cardiac sarcoidosis (CS), the inflammatory response can lead to fibrosis, culminating in clinical manifestations such as atrioventricular block and ventricular arrhythmias. Cardiac manifestations frequently present as first and isolated signs or may appear in conjunction with extracardiac manifestations. The incidence of sudden cardiac death (SCD) is high. Diagnosis remains a challenge. For a definite diagnosis, endomyocardial biopsy (EMB) is suggested. In clinical practice, compatible findings in advanced imaging using cardiovascular magnetic resonance (CMR) and/or positron emission tomography (PET) in combination with extracardiac histological proof is considered sufficient. Management revolves around the control of myocardial inflammation by employing immunosuppression. However, data regarding efficacy are merely based on observational evidence. Prevention of SCD is of particular importance and several guidelines provide recommendations regarding device therapy. In patients with manifest CS, outcome data indicate a 5-year survival of around 90% and a 10-year survival in the range of 80%. Data for patients with silent CS are conflicting; some studies suggest an overall benign course of disease while others reported contrasting observations. Future research challenges involve better understanding of the immunologic pathogenesis of the disease for a targeted therapy, improving imaging to aid early diagnosis, assessing the need for screening of asymptomatic patients and randomized trials. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Treatment of Cardiomyopathy)
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17 pages, 6643 KiB  
Review
Alcohol Septal Ablation or Mavacamten for Obstructive Hypertrophic Cardiomyopathy
by Smita Scholtz, Volker Rudolph and Jan-Christian Reil
J. Clin. Med. 2023, 12(20), 6628; https://doi.org/10.3390/jcm12206628 - 19 Oct 2023
Cited by 1 | Viewed by 1252
Abstract
Hypertrophic cardiomyopathy (HCM) is a genetic disease characterized by an increased left ventricular wall thickness in the absence of increased afterload conditions. In addition to diastolic dysfunction, obstruction of the left ventricular outflow tract is common in HCM and has an important influence [...] Read more.
Hypertrophic cardiomyopathy (HCM) is a genetic disease characterized by an increased left ventricular wall thickness in the absence of increased afterload conditions. In addition to diastolic dysfunction, obstruction of the left ventricular outflow tract is common in HCM and has an important influence on symptoms and outcome. Over the last five decades or two decades, respectively, surgical myectomy and alcohol septal ablation were the only therapeutic options if standard medical care was not sufficient. Recently, a new option has become available that has the potential to revolutionize the therapeutic strategies for patients with HCM. Mavacamten is a myosin inhibitor that belongs to a completely new drug class and targets the excessive actin–myosin cross-bridging that is the underlying pathology of HCM. By reducing the actin–myosin interactions, mavacamten not only reduces the left ventricular outflow tract (LVOT) obstruction but also seems to have positive effects on the diastolic function, microcirculation, and cardiac structure. This article summarizes the current evidence on alcohol septal ablation and reviews the preclinical and clinical data on mavacamten for the treatment of patients with obstructive HCM. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Treatment of Cardiomyopathy)
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