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16 pages, 1349 KiB

Open AccessArticle

Electrocardiogram Features of Left Ventricular Excessive Trabeculation with Preserved Cardiac Function in Light of Cardiac Magnetic Resonance and Genetics

by Kristóf Attila Farkas-Sütő, Kinga Grebur, Balázs Mester, Flóra Klára Gyulánczi, Csaba Bödör, Hajnalka Vágó, Béla Merkely and Andrea Szűcs

J. Clin. Med. 2024, 13(19), 5906; https://doi.org/10.3390/jcm13195906 - 3 Oct 2024

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Abstract

Background and Objectives: Although left ventricular excessive trabeculation (LVET) can cause heart failure, arrhythmia and thromboembolism, limited literature is available on the ECG characteristics of primary LVET with preserved left ventricular function (EF). We aimed to compare the ECG characteristics and cardiac [...] Read more.

Background and Objectives: Although left ventricular excessive trabeculation (LVET) can cause heart failure, arrhythmia and thromboembolism, limited literature is available on the ECG characteristics of primary LVET with preserved left ventricular function (EF). We aimed to compare the ECG characteristics and cardiac MR (CMR) parameters of LVET individuals with preserved left ventricular EF to a control (C) group, to identify sex-specific differences, and to compare the genetic subgroups of LVET with each other and with a C population. Methods: In our study, we selected 69 LVET individuals (EF > 50%) without any comorbidities and compared them to 69 sex- and age-matched control subjects (42% females in both groups, p = 1.000; mean age LVET-vs-C: 38 ± 14 vs. 38 ± 14 years p = 0.814). We analyzed the pattern and notable parameters of the 12-lead ECG recordings. We determined the volumetric and functional parameters, as well as the muscle mass values of the left and right ventricles (LV, RV) based on the CMR recordings. Based on the genotype, three subgroups were established: pathogenic, variant of uncertain significance and benign. Results: In the LVET group, we found normal but elevated volumetric and muscle mass values and a decreased LV_EF, wider QRS, prolonged QTc, higher RV Sokolow index values and lower T wave amplitude compared to the C. When comparing MR and ECG parameters between genetic subgroups, only the QTc showed a significant difference. Over one-third of the LVET population had arrhythmic episodes and a positive family history. Conclusions: The subclinical morphological and ECG changes and the clinical background of the LVET group indicate the need for follow-up of this population, even with preserved EF. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Treatment of Cardiomyopathy)

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11 pages, 1254 KiB

Open AccessArticle

Clinical History of Patients with Hypertrophic Cardiomyopathy—How to Improve the Initiation Process of the Diagnosis?

by Dominika Bieczek, Adrianna Ściślicka, Agnieszka Adamiec, Aleksandra Cader, Monika Wandasiewicz, Bartosz Basiaga, Małgorzata Niemiec and Katarzyna Mizia-Stec

J. Clin. Med. 2024, 13(17), 5239; https://doi.org/10.3390/jcm13175239 - 4 Sep 2024

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Abstract

Background: Regardless of genetic origin and recommended screening methods, hypertrophic cardiomyopathy (HCM) is commonly diagnosed late in the advanced stages of the disease. The aim of this study was to analyse the case history of patients with HCM in order to obtain [...] Read more.

Background: Regardless of genetic origin and recommended screening methods, hypertrophic cardiomyopathy (HCM) is commonly diagnosed late in the advanced stages of the disease. The aim of this study was to analyse the case history of patients with HCM in order to obtain an initiation of the diagnostic process. Methods: This study was a retrospective, tertiary, single-centre cohort analysis of 85 consecutive pts with HCM (mean age at the time of HCM diagnosis: 51 ± 15 years; F/M: 42/43) who were hospitalized during the period from 1 January 2013 to 31 December 2022. Type of referral to the hospital, the reason for hospitalization as well as accompanying symptoms, comorbidities, and family history were analysed to obtain an initiation of the diagnostic process. The analysis was limited to hospitalizations in which the diagnosis of HCM was stated for the first time. Results: An analysis of the type of referral to the hospital revealed the following data: 18% of patients were admitted as urgent hospitalizations (UHs) and 82% as elective hospitalizations (EHs). Among the UHs, the majority of patients were transferred from another hospital (13%), and among the EHs, 65% of patients were referred from a specialised outpatient medical care (SMC) facility. The majority of patients in both the UH and EH groups were symptomatic: 84% in the EH group (the most common symptom was exertional dyspnea in 56% of pts) and 93% in the UH group (the most common symptom was syncope in 60% of pts). Among the analysed population, the most frequent comorbidities were systemic hypertension (51%), lipid metabolism disorders (38%) and obesity (23%). Conclusions: A diagnosis of HCM is often made at an advanced age in symptomatic patients, mainly during an EH. Nearly one-fifth of the Polish HCM population is diagnosed during a UH after a sudden event, which suggests the need for improvements in medical care in Poland. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Treatment of Cardiomyopathy)

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12 pages, 1212 KiB

Open AccessEditor’s ChoiceArticle

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

Cited by 3 | Viewed by 1049

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

Open AccessArticle

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 1390

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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12 pages, 971 KiB

Open AccessReview

Diagnosing AL and ATTR Amyloid Cardiomyopathy: A Multidisciplinary Approach

by Fabian aus dem Siepen and Timon Hansen

J. Clin. Med. 2024, 13(19), 5873; https://doi.org/10.3390/jcm13195873 - 1 Oct 2024

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Abstract

Amyloidosis with cardiac involvement is a fatal disease leading to progressive heart failure. The most common forms of amyloidosis with cardiac involvement are light chain (AL) and transthyretin (ATTR) amyloidosis. To allow effective specific treatment for both forms, precise and early diagnosis is [...] Read more.

Amyloidosis with cardiac involvement is a fatal disease leading to progressive heart failure. The most common forms of amyloidosis with cardiac involvement are light chain (AL) and transthyretin (ATTR) amyloidosis. To allow effective specific treatment for both forms, precise and early diagnosis is important. This review focuses on diagnostic approaches for AL and ATTR amyloidosis with cardiac involvement, including different strategies, the role of imaging and biomarkers and possible pitfalls. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Treatment of Cardiomyopathy)

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15 pages, 3814 KiB

Open AccessReview

Left Ventricular Non-Compaction: Evolving Concepts

by Raimondo Pittorru, Manuel De Lazzari, Federico Migliore, Enrica Frasson, Alessandro Zorzi, Alberto Cipriani, Giulia Brunetti, Giorgio De Conti, Raffaella Motta, Martina Perazzolo Marra and Domenico Corrado

J. Clin. Med. 2024, 13(19), 5674; https://doi.org/10.3390/jcm13195674 - 24 Sep 2024

Viewed by 883

Abstract

Left ventricular non-compaction (LVNC) is a rare heart muscle disease defined by the presence of prominent left ventricular trabeculation, deep intertrabecular recesses, and a thin compact layer. Several hypotheses have been proposed regarding its pathogenesis, with the most recently accepted one being that [...] Read more.

Left ventricular non-compaction (LVNC) is a rare heart muscle disease defined by the presence of prominent left ventricular trabeculation, deep intertrabecular recesses, and a thin compact layer. Several hypotheses have been proposed regarding its pathogenesis, with the most recently accepted one being that compact layer and trabeculated layers develop independently according to an “allometric growth”. The current gold-standard diagnostic criteria (in particular, the Petersen index non-compaction/compaction ratio > 2.3) reflect an excess of myocardial trabeculation, which is not a specific morpho-functional feature of LVNC cardiomyopathy but merely a “phenotypic trait”, even described in association with other myocardial disease and over-loading conditions. Accordingly, the European Society of Cardiology (ESC) guidelines have definitively abolished the term ‘LVNC cardiomyopathy’. Recently, evolving perspectives led to the restoration of LVNC cardiomyopathy by distinguishing “hypertrabeculation phenotype” and “non-compaction phenotype”. It has been proposed that the disease-specific pathophysiologic mechanism is a congenitally underdevelopment of the compact layer accounting for an impairment of the left ventricular systolic function. Future prospective research should focus on the clinical and prognostic relevance of compact layer thinning rather than excessive trabeculation, which could significantly influence the management of patients with LVNC. The review aims to update current knowledge on the pathogenesis, genetics, and diagnostic criteria of LVNC, offering modern insights for future perspectives. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Treatment of Cardiomyopathy)

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19 pages, 2893 KiB

Open AccessReview

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

Cited by 1 | Viewed by 2868

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

Open AccessReview

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 2089

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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