Editorial

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Open AccessEditorial

Editorial: Cardiomyopathies: Current Treatment and Future Options

by Stefan Peters

J. Clin. Med. 2020, 9(11), 3531; https://doi.org/10.3390/jcm9113531 - 31 Oct 2020

Cited by 2 | Viewed by 1288

Cardiomyopathies are an essential component in clinical cardiology. The number of different cardiomyopathies have increased a lot due to genetics and newer insights in pathomechanism. The current treatment and future options are demonstrated in advance. Full article

(This article belongs to the Special Issue Cardiomyopathies: Current Treatment and Future Options)

Research

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10 pages, 238 KiB

Open AccessArticle

Short- and Mid-Term Outcomes of Early Alcohol Septal Ablation Therapy for Patients with Mildly Symptomatic Hypertrophic Obstructive Cardiomyopathy: A Tertiary Center Experience

by Veysel Oktay, Sukru Arslan, Muhammed Heja Gecit, Zubeyir Bulat and Mehmet Emin Gokce

J. Clin. Med. 2024, 13(5), 1444; https://doi.org/10.3390/jcm13051444 - 01 Mar 2024

Viewed by 403

Abstract

Background: Left ventricular outflow tract obstruction (LVOTO) impairs survival and diminishes quality of life in patients with hypertrophic obstructive cardiomyopathy (HOCM). In this study, we aimed to investigate the safety and the efficacy of earlier alcohol septal ablation (ASA) in patients with HOCM. [...] Read more.

Background: Left ventricular outflow tract obstruction (LVOTO) impairs survival and diminishes quality of life in patients with hypertrophic obstructive cardiomyopathy (HOCM). In this study, we aimed to investigate the safety and the efficacy of earlier alcohol septal ablation (ASA) in patients with HOCM. Methods: A total of 47 patients with mildly symptomatic HOCM (NYHA II) and having poor functional capacity despite maximal tolerated medical therapy were included. Results: The mean age of the patients was 55 ± 14, and 57% of the patients were male. All clinical endpoint targets including 30 d mortality (1% vs. 0% p < 0.01), 30 d adverse complications (10% vs. 0% p < 0.01), 30 d complete heart block resulting in need for permanent pacemaker (10% vs. 4.2% p < 0.01), more than moderate residual mitral regurgitation (5% vs. 2.1% p < 0.01), repeat procedure rate (10% vs. 4.2% p < 0.01), improvement of (NYHA) class (90% vs. 95.7% p < 0.01), rest and provoked (LVOT) gradient < 50 mmHg (90% vs. 97.8% p < 0.01) were significantly reached. Conclusions: In patients with mildly symptomatic HOCM (NYHA II), earlier ASA may be performed as an effective and safe procedure in experienced centers. Full article

(This article belongs to the Special Issue Cardiomyopathies: Current Treatment and Future Options)

11 pages, 1798 KiB

Open AccessArticle

Hypertrophic Cardiomyopathy in a Latin American Center: A Single Center Observational Study

by Juan David López-Ponce de Leon, Mayra Estacio, Natalia Giraldo, Manuela Escalante, Yorlany Rodas, Jessica Largo, Juliana Lores, María Camila Victoria, Diana Argote, Noel Florez, Diana Carrillo, Pastor Olaya, Mauricio Mejia and Juan Esteban Gomez

J. Clin. Med. 2023, 12(17), 5682; https://doi.org/10.3390/jcm12175682 - 31 Aug 2023

Viewed by 1001

Abstract

Background: Hypertrophic cardiomyopathy (HCM) is a complex disorder that includes various phenotypes, leading to different manifestations. It also shares different disadvantages typical of rare diseases, including limited recognition, lack of prospective studies assessing treatment, and little or delayed access to advanced treatment options. [...] Read more.

Background: Hypertrophic cardiomyopathy (HCM) is a complex disorder that includes various phenotypes, leading to different manifestations. It also shares different disadvantages typical of rare diseases, including limited recognition, lack of prospective studies assessing treatment, and little or delayed access to advanced treatment options. Reliable data about the prevalence and natural history of cardiomyopathies in South America are lacking. This study summarizes the features and management of patients with HCM in a university hospital in Colombia. Methods: This was an observational retrospective cohort study of patients with HCM between January 2010 and December 2021. Patient data were analyzed from an institutional cardiomyopathy registry. Demographic, paraclinical, and outcome data were collected. Results: A total of 82 patients during the study period were enrolled. Of these, 67.1% were male, and the mean age at diagnosis was 49 years. Approximately 83% were in NYHA functional class I and II, and the most reported symptoms were dyspnea (38%), angina (20%), syncope (15%), and palpitations (11%). In addition, 89% had preserved left ventricular ejection fraction (LVEF) with an asymmetric septal pattern in 65%. Five patients (6%) had alcohol septal ablation and four (5%) had septal myectomy. One patient required heart transplantation during follow-up. Sudden cardiovascular death was observed in 2.6%. The overall mortality during follow-up was 7.3%. Conclusions: HCM is a complex and heterogeneous disorder that presents with significant morbidity and mortality. Our registry provides comprehensive data on disease courses and management in a developing country. Full article

(This article belongs to the Special Issue Cardiomyopathies: Current Treatment and Future Options)

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9 pages, 635 KiB

Open AccessArticle

The Role of Stress in Stable Patients with Takotsubo Syndrome—Does the Trigger Matter?

by Gassan Moady, Otman Ali, Rania Sweid and Shaul Atar

J. Clin. Med. 2022, 11(24), 7304; https://doi.org/10.3390/jcm11247304 - 09 Dec 2022

Viewed by 886

Abstract

Background: Takotsubo syndrome (TTS) is a unique type of reversible cardiomyopathy that predominantly affects elderly women. The role of physical and emotional stress in the pathophysiology of TTS is well established. However, the association between preceding emotional triggers and clinical outcomes in stable [...] Read more.

Background: Takotsubo syndrome (TTS) is a unique type of reversible cardiomyopathy that predominantly affects elderly women. The role of physical and emotional stress in the pathophysiology of TTS is well established. However, the association between preceding emotional triggers and clinical outcomes in stable patients has not yet been fully investigated. We aimed to investigate the association between emotional triggers before symptom onset and clinical outcomes in stable patients with TTS. Methods: This is a retrospective cohort study based on the data of patients with ICD-9 discharge diagnosis of TTS between 2017 and 2022. Patients were divided into two groups: with and without obvious emotional trigger before symptom onset. Demographic, laboratory, echocardiographic, and clinical outcomes were obtained and compared between the two groups. Results: We included 86 patients (93% were women, mean age 68.8 ± 12.3 years). Of them, 64 (74.4%) reported an emotional trigger before symptom onset. Patients with a previous emotional trigger had a longer hospital stay (4.3 + 2.0 days vs. 3.0 + 1.4, p = 0.002) with no difference in in-hospital complications (32.8% vs. 13.6%, p = 0.069), with no difference in 30-day mortality, readmissions, or recurrence rate between the groups. Conclusions: Patients with TTS related to an emotional trigger may represent a different population from patients without a preceding trigger by having more symptomatic disease and longer hospital stay, yet with no difference in the 30-day outcomes. Full article

(This article belongs to the Special Issue Cardiomyopathies: Current Treatment and Future Options)

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11 pages, 1086 KiB

Open AccessArticle

Pregnancy in Women with Arrhythmogenic Left Ventricular Cardiomyopathy

by Riccardo Bariani, Maria Bueno Marinas, Ilaria Rigato, Paola Veronese, Rudy Celeghin, Alberto Cipriani, Marco Cason, Valeria Pergola, Giulia Mattesi, Petra Deola, Alessandro Zorzi, Giuseppe Limongelli, Sabino Iliceto, Domenico Corrado, Cristina Basso, Kalliopi Pilichou and Barbara Bauce

J. Clin. Med. 2022, 11(22), 6735; https://doi.org/10.3390/jcm11226735 - 14 Nov 2022

Cited by 1 | Viewed by 1464

Abstract

Background: In the last few years, a phenotypic variant of arrhythmogenic cardiomyopathy (ACM) labeled arrhythmogenic left ventricular cardiomyopathy (ALVC) has been defined and researched. This type of cardiomyopathy is characterized by a predominant left ventricular (LV) involvement with no or minor right ventricular [...] Read more.

Background: In the last few years, a phenotypic variant of arrhythmogenic cardiomyopathy (ACM) labeled arrhythmogenic left ventricular cardiomyopathy (ALVC) has been defined and researched. This type of cardiomyopathy is characterized by a predominant left ventricular (LV) involvement with no or minor right ventricular (RV) abnormalities. Data on the specific risk and management of pregnancy in women affected by ALVC are, thus far, not available. We have sought to characterize pregnancy course and outcomes in women affected by ALVC through the evaluation of a series of childbearing patients. Methods: A series of consecutive female ALVC patients were analyzed in a cross-sectional, retrospective study. Study protocol included 12-lead ECG assessments, 24-h Holter ECG evaluations, 2D-echocardiogram tests, cardiac magnetic resonance assessments, and genetic analysis. Furthermore, the long-term disease course of childbearing patients was compared with a group of nulliparous ALVC women. Results: A total of 35 patients (mean age 45 ± 9 years, 51% probands) were analyzed. Sixteen women (46%) reported a pregnancy, for a total of 27 singleton viable pregnancies (mean age at first childbirth 30 ± 9 years). Before pregnancy, all patients were in the NYHA class I and none of the patients reported a previous heart failure (HF) episode. No significant differences were found between childbearing and nulliparous women regarding ECG features, LV dimensions, function, and extent of late enhancement. Overall, 7 patients (20%, 4 belonging to the childbearing group) experienced a sustained ventricular tachycardia and 2 (6%)—one for each group—showed heart failure (HF) episodes. The analysis of arrhythmia-free survival patients did not show significant differences between childbearing and nulliparous women. Conclusions: In a cohort of ALVC patients without previous episodes of HF, pregnancy was well tolerated, with no significant influence on disease progression and degree of electrical instability. Further studies on a larger cohort of women with different degrees of disease extent and genetic background are needed in order to achieve a more comprehensive knowledge regarding the outcome of pregnancy in ALVC patients. Full article

(This article belongs to the Special Issue Cardiomyopathies: Current Treatment and Future Options)

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11 pages, 2765 KiB

Open AccessArticle

Nucleoside Analogue Reverse Transcriptase Inhibitors Improve Clinical Outcome in Transcriptional Active Human Parvovirus B19-Positive Patients

by Heinz-Peter Schultheiss, Thomas Bock, Heiko Pietsch, Ganna Aleshcheva, Christian Baumeier, Friedrich Fruhwald and Felicitas Escher

J. Clin. Med. 2021, 10(9), 1928; https://doi.org/10.3390/jcm10091928 - 29 Apr 2021

Cited by 7 | Viewed by 1627

Abstract

Human parvovirus B19 (B19V) is the predominant cardiotropic virus associated with dilated inflammatory cardiomyopathy (DCMi). Transcriptionally active cardiotropic B19V infection is clinically relevant and triggers adverse long-term mortality. During the study; we evaluated whether antiviral treatment with the nucleoside analogue telbivudine (LTD) is [...] Read more.

Human parvovirus B19 (B19V) is the predominant cardiotropic virus associated with dilated inflammatory cardiomyopathy (DCMi). Transcriptionally active cardiotropic B19V infection is clinically relevant and triggers adverse long-term mortality. During the study; we evaluated whether antiviral treatment with the nucleoside analogue telbivudine (LTD) is effective in suppressing transcriptional active B19V in endomyocardial biopsies (EMBs) of B19V positive patients and improving clinical outcomes. Seventeen B19V-positive patients (13 male; mean age 45.7 ± 13.9 years; mean left ventricular ejection fraction (LVEF) 37.7 ± 13.5%) with positive B19V DNA and transcriptional activity (B19V mRNA) in EMBs were treated with 600 mg/d LTD over a period of six months. Patients underwent EMBs before and after termination of the LTD treatment. B19V RNA copy numbers remained unchanged in 3/17 patients (non-responder) and declined or disappeared completely in the remaining 14/17 patients (responder) (p ≤ 0.0001). Notably; LVEF improvement was more significant in patients who reduced or lost B19V RNA (responder; p = 0.02) in contrast to non-responders (p = 0.7). In parallel; responder patients displayed statistically significant improvement in quality of life (QoL) questionnaires (p = 0.03) and dyspnea on exertion (p = 0.0006), reflecting an improvement in New York Heart Association (NYHA) Classification (p = 0.001). Our findings demonstrated for the first time that suppression of B19V transcriptional activity by LTD treatment improved hemodynamic and clinical outcome significantly. Thus; the present study substantiates the clinical relevance of detecting B19V transcriptional activity of the myocardium. Full article

(This article belongs to the Special Issue Cardiomyopathies: Current Treatment and Future Options)

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11 pages, 1581 KiB

Open AccessArticle

Cardiac Arrhythmias in Muscular Dystrophies Associated with Emerinopathy and Laminopathy: A Cohort Study

by Michał Marchel, Agnieszka Madej-Pilarczyk, Agata Tymińska, Roman Steckiewicz, Ewa Ostrowska, Julia Wysińska, Vincenzo Russo, Marcin Grabowski and Grzegorz Opolski

J. Clin. Med. 2021, 10(4), 732; https://doi.org/10.3390/jcm10040732 - 12 Feb 2021

Cited by 15 | Viewed by 2700

Abstract

Introduction: Cardiac involvement in patients with muscular dystrophy associated with Lamin A/C mutations (LMNA) is characterized by atrioventricular conduction abnormalities and life-threatening cardiac arrhythmias. Little is known about cardiac involvement in patients with emerin mutation (EMD). The aim of [...] Read more.

Introduction: Cardiac involvement in patients with muscular dystrophy associated with Lamin A/C mutations (LMNA) is characterized by atrioventricular conduction abnormalities and life-threatening cardiac arrhythmias. Little is known about cardiac involvement in patients with emerin mutation (EMD). The aim of our study was to describe and compare the prevalence and time distribution of cardiac arrhythmias at extended follow-up. Patients and methods: 45 consecutive patients affected by muscular dystrophy associated to laminopathy or emerinopathy were examined. All patients underwent clinical evaluation, 12-lead surface electrocardiogram (ECG), 24 h electrocardiographic monitoring, and cardiac implanted device interrogation. Results: At the end of 11 (5.0–16.6) years of follow-up, 89% of the patients showed cardiac arrhythmias. The most prevalent was atrial standstill (AS) (31%), followed by atrial fibrillation/flutter (AF/Afl) (29%) and ventricular tachycardia (22%). EMD patients presented more frequently AF/AFl compared to LMNA (50% vs. 20%, p = 0.06). Half of the EMD patients presented with AS, whilst there was no occurrence of such in the LMNA (p = 0.001). Ventricular arrhythmias were found in 60% of patients with laminopathy compared to 3% in patients with emerinopathy (p < 0.001). The age of AVB occurrence was higher in the LMNA group (32.8 +/− 10.6 vs. 25.1 +/− 9.1, p = 0.03). Conclusions: Atrial arrhythmias are common findings in patients with muscular dystrophy associated with EMD/LMNA mutations; however, they occurred earlier in EMD patients. Ventricular arrhythmias were very common (60%) in LMNA and occurred definitely earlier compared to the EMD group. Full article

(This article belongs to the Special Issue Cardiomyopathies: Current Treatment and Future Options)

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Review

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14 pages, 3854 KiB

Open AccessEditor’s ChoiceReview

Treatment of Transthyretin Amyloid Cardiomyopathy: The Current Options, the Future, and the Challenges

by Carsten Tschöpe and Ahmed Elsanhoury

J. Clin. Med. 2022, 11(8), 2148; https://doi.org/10.3390/jcm11082148 - 12 Apr 2022

Cited by 19 | Viewed by 5266

Abstract

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressively debilitating, rare disease associated with high mortality. ATTR-CM occurs when TTR amyloid protein builds up in the myocardium along with different organs, most commonly the peripheral and the autonomic nervous systems. Managing the cardiac complications with [...] Read more.

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressively debilitating, rare disease associated with high mortality. ATTR-CM occurs when TTR amyloid protein builds up in the myocardium along with different organs, most commonly the peripheral and the autonomic nervous systems. Managing the cardiac complications with standard heart failure medications is difficult due to the challenge to maintain a balance between the high filling pressure associated with restricted ventricular volume and the low cardiac output. To date, tafamidis is the only agent approved for ATTR-CM treatment. Besides, several agents, including green tea, tolcapone, and diflunisal, are used off-label in ATTR-CM patients. Novel therapies using RNA interference also offer clinical promise. Patisiran and inotersen are currently approved for ATTR-polyneuropathy of hereditary origin and are under investigation for ATTR-CM. Monoclonal antibodies in the early development phases carry hope for amyloid deposit clearance. Despite several drug candidates in the clinical development pipeline, the small ATTR-CM patient population raises several challenges. This review describes current and future therapies for ATTR-CM and sheds light on the clinical development hurdles facing them. Full article

(This article belongs to the Special Issue Cardiomyopathies: Current Treatment and Future Options)

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25 pages, 16659 KiB

Open AccessReview

Genetic Insights into Primary Restrictive Cardiomyopathy

by Andreas Brodehl and Brenda Gerull

J. Clin. Med. 2022, 11(8), 2094; https://doi.org/10.3390/jcm11082094 - 08 Apr 2022

Cited by 12 | Viewed by 3082

Abstract

Restrictive cardiomyopathy is a rare cardiac disease causing severe diastolic dysfunction, ventricular stiffness and dilated atria. In consequence, it induces heart failure often with preserved ejection fraction and is associated with a high mortality. Since it is a poor clinical prognosis, patients with [...] Read more.

Restrictive cardiomyopathy is a rare cardiac disease causing severe diastolic dysfunction, ventricular stiffness and dilated atria. In consequence, it induces heart failure often with preserved ejection fraction and is associated with a high mortality. Since it is a poor clinical prognosis, patients with restrictive cardiomyopathy frequently require heart transplantation. Genetic as well as non-genetic factors contribute to restrictive cardiomyopathy and a significant portion of cases are of unknown etiology. However, the genetic forms of restrictive cardiomyopathy and the involved molecular pathomechanisms are only partially understood. In this review, we summarize the current knowledge about primary genetic restrictive cardiomyopathy and describe its genetic landscape, which might be of interest for geneticists as well as for cardiologists. Full article

(This article belongs to the Special Issue Cardiomyopathies: Current Treatment and Future Options)

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16 pages, 1337 KiB

Open AccessReview

RBM20-Related Cardiomyopathy: Current Understanding and Future Options

by Jan Koelemen, Michael Gotthardt, Lars M. Steinmetz and Benjamin Meder

J. Clin. Med. 2021, 10(18), 4101; https://doi.org/10.3390/jcm10184101 - 11 Sep 2021

Cited by 17 | Viewed by 5505

Abstract

Splice regulators play an essential role in the transcriptomic diversity of all eukaryotic cell types and organ systems. Recent evidence suggests a contribution of splice-regulatory networks in many diseases, such as cardiomyopathies. Adaptive splice regulators, such as RNA-binding motif protein 20 (RBM20) determine [...] Read more.

Splice regulators play an essential role in the transcriptomic diversity of all eukaryotic cell types and organ systems. Recent evidence suggests a contribution of splice-regulatory networks in many diseases, such as cardiomyopathies. Adaptive splice regulators, such as RNA-binding motif protein 20 (RBM20) determine the physiological mRNA landscape formation, and rare variants in the RBM20 gene explain up to 6% of genetic dilated cardiomyopathy (DCM) cases. With ample knowledge from RBM20-deficient mice, rats, swine and induced pluripotent stem cells (iPSCs), the downstream targets and quantitative effects on splicing are now well-defined and the prerequisites for corrective therapeutic approaches are set. This review article highlights some of the recent advances in the field, ranging from aspects of granule formation to 3D genome architectures underlying RBM20-related cardiomyopathy. Promising therapeutic strategies are presented and put into context with the pathophysiological characteristics of RBM20-related diseases. Full article

(This article belongs to the Special Issue Cardiomyopathies: Current Treatment and Future Options)

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27 pages, 30758 KiB

Open AccessReview

Takotsubo Cardiomyopathy: Current Treatment

by John E. Madias

J. Clin. Med. 2021, 10(15), 3440; https://doi.org/10.3390/jcm10153440 - 02 Aug 2021

Cited by 21 | Viewed by 7692

Abstract

Management of takotsubo syndrome (TTS) is currently empirical and supportive, via extrapolation of therapeutic principles worked out for other cardiovascular pathologies. Although it has been emphasized that such non-specific therapies for TTS are consequent to its still elusive pathophysiology, one wonders whether it [...] Read more.

Management of takotsubo syndrome (TTS) is currently empirical and supportive, via extrapolation of therapeutic principles worked out for other cardiovascular pathologies. Although it has been emphasized that such non-specific therapies for TTS are consequent to its still elusive pathophysiology, one wonders whether it does not necessarily follow that the absence of knowledge of TTS’ pathophysiological underpinnings should prevent us for searching, designing, or even finding, therapies efficacious for its management. Additionally, it is conceivable that therapy for TTS may be in response to pathophysiological/pathoanatomic/pathohistological consequences (e.g., “myocardial stunning/reperfusion injury”), common to both TTS and coronary artery disease, or other cardiovascular disorders). The present review outlines the whole range of management principles of TTS during its acute phase and at follow-up, including considerations pertaining to the recurrence of TTS, and commences with the idea that occasionally management of TTS should consist of mere observation along the “first do no harm” principle, while self-healing is under way. Finally, some new therapeutic hypotheses (i.e., large doses of insulin infusions in association with the employment of intravenous short- and ultrashort-acting β-blockers) are being entertained, based on previous extensive animal work and limited application in patients with neurogenic cardiomyopathy and TTS. Full article

(This article belongs to the Special Issue Cardiomyopathies: Current Treatment and Future Options)

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10 pages, 1202 KiB

Open AccessReview

Fabry Cardiomyopathy: Current Treatment and Future Options

by Irfan Vardarli, Manuel Weber, Christoph Rischpler, Dagmar Führer, Ken Herrmann and Frank Weidemann

J. Clin. Med. 2021, 10(14), 3026; https://doi.org/10.3390/jcm10143026 - 07 Jul 2021

Cited by 11 | Viewed by 2561

Abstract

Fabry disease is a multisystem X-linked lysosomal storage disorder caused by a mutation in the alpha-galactosidase A gene. Deficiency or reduced activity of alpha-galactosidase A (GLA) is leading to progressive intracellular accumulation of globotriaosylceramide (GL3) in various organs, including the heart, kidney and [...] Read more.

Fabry disease is a multisystem X-linked lysosomal storage disorder caused by a mutation in the alpha-galactosidase A gene. Deficiency or reduced activity of alpha-galactosidase A (GLA) is leading to progressive intracellular accumulation of globotriaosylceramide (GL3) in various organs, including the heart, kidney and nerve system. Cardiac involvement is frequent and is evident as concentric left ventricular hypertrophy. Currently, the standard treatment is enzyme replacement therapy or chaperone therapy. However, early starting of therapy, before myocardial fibrosis has developed, is essential for long-term improvement of myocardial function. For future treatment options, various therapeutic approaches including gene therapy are under development. This review describes the current and potential future therapy options for Fabry cardiomyopathy. Full article

(This article belongs to the Special Issue Cardiomyopathies: Current Treatment and Future Options)

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17 pages, 2714 KiB

Open AccessReview

Arrhythmogenic Cardiomyopathy—Current Treatment and Future Options

by Federico Migliore, Giulia Mattesi, Alessandro Zorzi, Barbara Bauce, Ilaria Rigato, Domenico Corrado and Alberto Cipriani

J. Clin. Med. 2021, 10(13), 2750; https://doi.org/10.3390/jcm10132750 - 22 Jun 2021

Cited by 12 | Viewed by 4080

Abstract

Arrhythmogenic cardiomyopathy (ACM) is an inheritable heart muscle disease characterised pathologically by fibrofatty myocardial replacement and clinically by ventricular arrhythmias (VAs) and sudden cardiac death (SCD). Although, in its original description, the disease was believed to predominantly involve the right ventricle, biventricular and [...] Read more.

Arrhythmogenic cardiomyopathy (ACM) is an inheritable heart muscle disease characterised pathologically by fibrofatty myocardial replacement and clinically by ventricular arrhythmias (VAs) and sudden cardiac death (SCD). Although, in its original description, the disease was believed to predominantly involve the right ventricle, biventricular and left-dominant variants, in which the myocardial lesions affect in parallel or even mostly the left ventricle, are nowadays commonly observed. The clinical management of these patients has two main purposes: the prevention of SCD and the control of arrhythmic and heart failure (HF) events. An implantable cardioverter defibrillator (ICD) is the only proven lifesaving treatment, despite significant morbidity because of device-related complications and inappropriate shocks. Selection of patients who can benefit the most from ICD therapy is one of the most challenging issues in clinical practice. Risk stratification in ACM patients is mostly based on arrhythmic burden and ventricular dysfunction severity, although other clinical features resulting from electrocardiogram and imaging modalities such as cardiac magnetic resonance may have a role. Medical therapy is crucial for treatment of VAs and the prevention of negative ventricular remodelling. In this regard, the efficacy of novel anti-HF molecules and drugs acting on the inflammatory pathway in patients with ACM is, to date, unknown. Catheter ablation represents an effective strategy to treat ventricular tachycardia relapses and recurrent ICD shocks. The present review will address the current strategies for prevention of SCD and treatment of VAs and HF in patients with ACM. Full article

(This article belongs to the Special Issue Cardiomyopathies: Current Treatment and Future Options)

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28 pages, 4304 KiB

Open AccessReview

Noncompaction Cardiomyopathy—History and Current Knowledge for Clinical Practice

by Birgit J. Gerecke and Rolf Engberding

J. Clin. Med. 2021, 10(11), 2457; https://doi.org/10.3390/jcm10112457 - 01 Jun 2021

Cited by 22 | Viewed by 6115

Abstract

Noncompaction cardiomyopathy (NCCM) has gained increasing attention over the past twenty years, but in daily clinical practice NCCM is still rarely considered. So far, there are no generally accepted diagnostic criteria and some groups even refuse to acknowledge it as a distinct cardiomyopathy, [...] Read more.

Noncompaction cardiomyopathy (NCCM) has gained increasing attention over the past twenty years, but in daily clinical practice NCCM is still rarely considered. So far, there are no generally accepted diagnostic criteria and some groups even refuse to acknowledge it as a distinct cardiomyopathy, and grade it as a variant of dilated cardiomyopathy or a morphological trait of different conditions. A wide range of morphological variants have been observed even in healthy persons, suggesting that pathologic remodeling and physiologic adaptation have to be differentiated in cases where this spongy myocardial pattern is encountered. Recent studies have uncovered numerous new pathogenetic and pathophysiologic aspects of this elusive cardiomyopathy, but a current summary and evaluation of clinical patient management are still lacking, especially to avoid mis- and overdiagnosis. Addressing this issue, this article provides an up to date overview of the current knowledge in classification, pathogenesis, pathophysiology, epidemiology, clinical manifestations and diagnostic evaluation, including genetic testing, treatment and prognosis of NCCM. Full article

(This article belongs to the Special Issue Cardiomyopathies: Current Treatment and Future Options)

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10 pages, 3683 KiB

Open AccessReview

Role of Provocable Brugada ECG Pattern in The Correct Risk Stratification for Major Arrhythmic Events

by Nicolò Martini, Martina Testolina, Gian Luca Toffanin, Rocco Arancio, Luca De Mattia, Sergio Cannas, Giovanni Morani and Bortolo Martini

J. Clin. Med. 2021, 10(5), 1025; https://doi.org/10.3390/jcm10051025 - 02 Mar 2021

Cited by 3 | Viewed by 4145

Abstract

The so-called Brugada syndrome (BS), first called precordial early repolarization syndrome (PERS), is characterized by the association of a fascinating electrocardiographic pattern, namely an aspect resembling right bundle branch block with a coved and sometime upsloping ST segment elevation in the precordial leads, [...] Read more.

The so-called Brugada syndrome (BS), first called precordial early repolarization syndrome (PERS), is characterized by the association of a fascinating electrocardiographic pattern, namely an aspect resembling right bundle branch block with a coved and sometime upsloping ST segment elevation in the precordial leads, and major ventricular arrhythmic events that could rarely lead to sudden death. Its electrogenesis has been related to a conduction delay mostly, but not only, located on the right ventricular outflow tract (RVOT), probably due to a progressive fibrosis of the conduction system. Many tests have been proposed to identify people at risk of sudden death and, among all, ajmaline challenge, thanks to its ability to enhance latent conduction defects, became so popular, even if its role is still controversial as it is neither specific nor sensitive enough to guide further invasive investigations and managements. Interestingly, a type 1 pattern has also been induced in many other cardiac diseases or systemic diseases with a cardiac involvement, such as long QT syndrome (LQTS), arrhythmogenic right ventricular cardiomyopathy (ARVC), hypertrophic cardiomyopathy (HCM) and myotonic dystrophy, without any clear arrhythmic risk profile. Evidence-based studies clearly showed that a positive ajmaline test does not provide any additional information on the risk stratification for major ventricular arrhythmic events on asymptomatic individuals with a non-diagnostic Brugada ECG pattern. Full article

(This article belongs to the Special Issue Cardiomyopathies: Current Treatment and Future Options)

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8 pages, 1016 KiB

Open AccessReview

Cardiac Filaminopathies: Illuminating the Divergent Role of Filamin C Mutations in Human Cardiomyopathy

by Matthias Eden and Norbert Frey

J. Clin. Med. 2021, 10(4), 577; https://doi.org/10.3390/jcm10040577 - 04 Feb 2021

Cited by 16 | Viewed by 4725

Abstract

Over the past decades, there has been tremendous progress in understanding genetic alterations that can result in different phenotypes of human cardiomyopathies. More than a thousand mutations in various genes have been identified, indicating that distinct genetic alterations, or combinations of genetic alterations, [...] Read more.

Over the past decades, there has been tremendous progress in understanding genetic alterations that can result in different phenotypes of human cardiomyopathies. More than a thousand mutations in various genes have been identified, indicating that distinct genetic alterations, or combinations of genetic alterations, can cause either hypertrophic (HCM), dilated (DCM), restrictive (RCM), or arrhythmogenic cardiomyopathies (ARVC). Translation of these results from “bench to bedside” can potentially group affected patients according to their molecular etiology and identify subclinical individuals at high risk for developing cardiomyopathy or patients with overt phenotypes at high risk for cardiac deterioration or sudden cardiac death. These advances provide not only mechanistic insights into the earliest manifestations of cardiomyopathy, but such efforts also hold the promise that mutation-specific pathophysiology might result in novel “personalized” therapeutic possibilities. Recently, the FLNC gene encoding the sarcomeric protein filamin C has gained special interest since FLNC mutations were found in several distinct and possibly overlapping cardiomyopathy phenotypes. Specifically, mutations in FLNC were initially only linked to myofibrillar myopathy (MFM), but are now increasingly found in various forms of human cardiomyopathy. FLNC thereby represents another example for the complex genetic and phenotypic continuum of these diseases. Full article

(This article belongs to the Special Issue Cardiomyopathies: Current Treatment and Future Options)

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