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Biomedicines
Special Issues
Pathogenesis, Diagnosis, and Treatment of Cardiomyopathy
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Pathogenesis, Diagnosis, and Treatment of Cardiomyopathy

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: 31 July 2025 | Viewed by 1736

Special Issue Editor

Dr. Shanat Baig

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Guest Editor
1. Institute of Cardiovascular Sciences, University of Birmingham, Birmingham B15 2TT, UK
2. Department of Cardiology, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth, Birmingham B15 2GW, UK
Interests: Inherited cardio-metabolic condition; cardiomyopathies & cardiac imaging

Special Issue Information

Dear Colleagues,

Cardiomyopathies are a challenging group of conditions that present with diverse clinical manifestations and are associated with adverse prognoses. The etiopathogenesis is heterogeneous, including genetic abnormalities, cardiac myocyte injury, and infiltrative processes involving the myocardium. The extent of cardiac involvement ranges from left ventricular hypertrophy/dilatation/impairment to conduction system involvement resulting in life-threatening arrhythmia. They can present in any of the three phenotypes commonly seen in cardiomyopathy, i.e., dilated, hypertrophic, and restrictive cardiomyopathies.

The rarity of some of these conditions means they require a high degree of clinical suspicion to make a clinical diagnosis. Electrocardiography and echocardiography are helpful screening tools; however, increasingly more advanced and complex investigations are needed, including cardiac magnetic resonance, nuclear imaging, and endomyocardial biopsy. Treatment is mainly dependent on the underlying etiology, making early detection key to good outcomes.

Renewed focus on some of these conditions in recent years has led to innovative treatment strategies and approval of new treatments such as disease-modifying transthyretin kinetic stabilizers for treating transthyretin amyloidosis (ATTR) and Mavacamten, a cardiac myosin inhibitor for obstructive hypertrophic cardiomyopathy.

It is my pleasure to invite you to submit your work focusing on the diverse etiopathogenesis, challenges associated with diagnosis, prognostication, and upcoming management strategies for cardiomyopathies.

Dr. Shanat Baig
Guest Editor

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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

  • infiltrative cardiomyopathy
  • amyloidosis
  • sarcoidosis
  • hemochromatosis
  • Fabry disease
  • glycogen storage disorders
  • lysosomal storage disorders
  • Danon disease

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Published Papers (4 papers)

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Research

15 pages, 3147 KiB  
Article
Cardiac Phase-Resolved T2* Magnetic Resonance Imaging Reveals Differences Between Normal Hearts and a Humanized Mouse Model of Hypertrophic Cardiomyopathy
by Oumaima Laghzali, Shahriar Shalikar, Siqin Liu, Sandra Lehmann, Joao dos Santos Periquito, Andreas Pohlmann, Sonia Waiczies, Lucie Carrier, Hsin-Jung Yang, Thoralf Niendorf and Min-Chi Ku
Biomedicines 2025, 13(5), 1193; https://doi.org/10.3390/biomedicines13051193 - 14 May 2025
Viewed by 273
Abstract
Background/Objectives: While T2* mapping effectively assesses cerebral blood oxygenation, its utility for capturing cardiac phase-dependent myocardial changes in hypertrophic cardiomyopathy (HCM) is underexplored. This study investigates T2* dynamics in an HCM mouse model, to validate T2* [...] Read more.
Background/Objectives: While T2* mapping effectively assesses cerebral blood oxygenation, its utility for capturing cardiac phase-dependent myocardial changes in hypertrophic cardiomyopathy (HCM) is underexplored. This study investigates T2* dynamics in an HCM mouse model, to validate T2* as a clinically relevant biomarker for improved HCM diagnosis and treatment monitoring. Methods: A cardiac-specific Mybpc3 genetic mouse model, closely mirroring human HCM, was used with 12 young mice (6–11 weeks old), including both male and female wild-type (WT) and Mybpc3-KI (HCM) groups. The cardiac function was assessed using self-gated multi-slice 2D CINE imaging. To investigate myocardial T2* variations across the cardiac cycle, multi-gradient echo (MGE) imaging was employed. This approach used retrospective gating and continuous acquisition synchronization with pulse oximetry at 9.4 T small animal MRI. Results: Mybpc3-KI mice demonstrated left-ventricular (LV) hypertrophy compared to WT (HCM = 50.08 ± 4.68 µm/g vs. WT = 45.80 ± 20.07 µm/g, p < 0.01) and reduced ejection fraction (HCM = 38.55 ± 5.39% vs. WT= 72.53 ± 3.95%, p < 0.01). Myocardial T2* was significantly elevated in HCM across all cardiac phases (HCM = 12.14 ± 1.54 ms vs. WT = 7.93 ± 1.57 ms, p = 0.002). Strong correlations were observed between myocardial T2* and LV mass (rho = 0.88, p = 0.03). Conclusions: T2* was elevated in HCM with increased LV mass, highlighting the potential of T2* MRI as a sensitive biomarker for distinguishing healthy mice from those with HCM and revealing possible myocardial abnormalities. Full article
(This article belongs to the Special Issue Pathogenesis, Diagnosis, and Treatment of Cardiomyopathy)
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10 pages, 654 KiB  
Article
Characterization of Coronary Artery Disease in Sepsis Survivors
by Samuel Malomo, Thomas Oswald, Thomas Alway, Stanislav Hadjivassilev, Steven Coombs, Susan Ellery, Joon Lee, Claire Phillips, Barbara Philips, Rachael James, David Hildick-Smith, Victoria Parish and Alexander Liu
Biomedicines 2025, 13(5), 1181; https://doi.org/10.3390/biomedicines13051181 - 13 May 2025
Viewed by 259
Abstract
Background: Sepsis survivors are at risk of developing myocardial infarction and heart failure. It remains unclear whether coronary artery disease (CAD) is a major contributor to the development of these complications. This study sought to characterize the burden and distribution of significant CAD [...] Read more.
Background: Sepsis survivors are at risk of developing myocardial infarction and heart failure. It remains unclear whether coronary artery disease (CAD) is a major contributor to the development of these complications. This study sought to characterize the burden and distribution of significant CAD in sepsis survivors. Methods: Sepsis survivors who underwent computed tomography coronary angiography (CTCA) or invasive coronary angiography (ICA) in a UK tertiary cardiac center for suspected ischemic heart disease were retrospectively studied. Results: Of the 30 sepsis survivors (age 57 ± 12 years; 50% males), 21 patients underwent CTCA and 9 patients underwent ICA a median 39 days [IQR 12–152] from the sepsis episode. Eight patients (~27%) had angiographically significant CAD (n = 6 severe [>70%] stenosis; n = 2 moderate [50–70%] stenosis). The CT coronary calcium score was higher in patients with significant CAD compared to patients without significant CAD (638 [368–1015] vs. 4 [1–72]; p < 0.001). Of the 8 patients with significant CAD, 3 patients had LV systolic dysfunction (38%) on echocardiography and 8/21 (38%) patients without significant CAD had LV systolic dysfunction (p = 1.00). Long-term adverse complications (all-cause mortality and/or heart failure hospitalization) occurred 3/8 (38%) patients with significant CAD and 4/22 (18%) patients without significant CAD (p = 0.345). Conclusions: A minority of sepsis survivors have significant CAD. The presence of significant CAD cannot fully explain the occurrence of post-sepsis LV systolic dysfunction and adverse outcomes. The ischemic and non-ischemic mechanisms underlying post-sepsis cardiovascular disease require further investigation. Full article
(This article belongs to the Special Issue Pathogenesis, Diagnosis, and Treatment of Cardiomyopathy)
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11 pages, 1962 KiB  
Article
Predictors of Poor Long-Term Outcomes in Patients with Newly Diagnosed Asymptomatic Cardiac Sarcoidosis: A Cardiovascular Magnetic Resonance Study
by Nicoleta Nita, Dominik Felbel, Rima Melnic, Michael Paukovitsch, Wolfgang Rottbauer, Dominik Buckert and Johannes Mörike
Biomedicines 2025, 13(5), 1093; https://doi.org/10.3390/biomedicines13051093 - 30 Apr 2025
Viewed by 244
Abstract
Background: The prevalence of patients with cardiac sarcoidosis (CS) diagnosed at a subclinical stage has increased; however, their long-term outcomes are not well known. Objectives: To investigate the incidence and predictors of adverse long-term outcomes in newly diagnosed patients with asymptomatic CS. [...] Read more.
Background: The prevalence of patients with cardiac sarcoidosis (CS) diagnosed at a subclinical stage has increased; however, their long-term outcomes are not well known. Objectives: To investigate the incidence and predictors of adverse long-term outcomes in newly diagnosed patients with asymptomatic CS. Methods: Forty-three patients with newly diagnosed asymptomatic CS and comprehensive baseline evaluation with cardiovascular magnetic resonance (CMR) were studied. Asymptomatic CS was defined as CS in patients with biopsy-proven extracardiac sarcoidosis without cardiac symptoms but with abnormalities on CMR or positron emission tomography according to Heart Rhythm Society criteria. The primary endpoint was a composite of all-cause mortality, new ventricular arrhythmia or an atrioventricular block requiring cardiac device implantation, and hospitalization for heart failure. Results: Patients had a mean age of 56 ± 11 years and presented with normal left ventricular (LV) ejection fraction (58 ± 4%). A total of 44.2% of patients reached the composite endpoint during 5 years of follow-up. Patients with the primary endpoint were predominantly female (73.7%) and had a significantly higher prevalence of right ventricular (RV) involvement compared to patients without the primary endpoint (RV late gadolinium enhancement (LGE) in 26.3% vs. 4.2%, p = 0.037). In multivariate regression analysis, extensive LV LGE (HR 1.61, 95% CI 1.16–2.04, p = 0.004) and impaired RV global longitudinal strain (GLS) at baseline (HR 0.46, 95% CI 0.24–0.68, p = 0.015) were significantly predictive of the primary endpoint, whereas treatment with corticosteroids after CS diagnosis was significantly associated with improved outcomes (HR 7.69, 95% CI 1.11–11.11, p = 0.044). Conclusions: Newly diagnosed patients with asymptomatic CS have a significant incidence of adverse outcomes after 5 years of follow-up. The extent of LV LGE and impaired RV GLS at baseline predict poor long-term outcomes in asymptomatic CS. Full article
(This article belongs to the Special Issue Pathogenesis, Diagnosis, and Treatment of Cardiomyopathy)
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10 pages, 589 KiB  
Article
Ambient Temperature and the Frequency of Subsequent Heart Failure Decompensations in an Emergency Department
by Hermann Stefan Riepl, Viktoria Santner, Nora Schwegel, Viktoria Hoeller, Markus Wallner, Ewald Kolesnik, Dirk von Lewinski, Klemens Ablasser, Philipp Kreuzer, Klaus Zorn-Pauly, Faisal Aziz, Harald Sourij, Andreas Zirlik, Dieter Platzer and Nicolas Verheyen
Biomedicines 2025, 13(5), 1054; https://doi.org/10.3390/biomedicines13051054 - 27 Apr 2025
Viewed by 539
Abstract
Background/Objectives: The impact of cold temperature on heart failure (HF) decompensations in continental climate zones is unclear. We aimed to evaluate the association between daily temperature and the subsequent frequency of HF decompensations in an emergency department (ED) in Eastern Austria. Methods: A [...] Read more.
Background/Objectives: The impact of cold temperature on heart failure (HF) decompensations in continental climate zones is unclear. We aimed to evaluate the association between daily temperature and the subsequent frequency of HF decompensations in an emergency department (ED) in Eastern Austria. Methods: A systematic retrospective medical chart review of all admissions to the ED of a tertiary care center within 12 months was conducted. Maximal daily temperature and further meteorological data were obtained from the National Institute for Meteorology and Geodynamics. Results: Among 32.028 ED admissions, there were 1.248 HF decompensations. Median maximal daily temperature ranged from 4.3 °C in January to 28.7 °C in August, and the frequency of decompensations ranged from 65 in August to 143 in January. Maximal daily temperature correlated negatively with the number of decompensations on the subsequent day (beta = −0.07 [95% confidence interval, −0.09 to −0.05], p < 0.001). The association remained significant in a multivariate linear regression model adjusted for other meteorological parameters (adjusted beta = −0.07 [−0.10 to −0.04], p < 0.001). Moreover, it was present across HF with preserved (n = 375; beta = −0.08 [−0.14 to −0.03], p = 0.004) and reduced (n = 331; beta = −0.08 [−0.13 to −0.02], p = 0.005) ejection fraction, but not with mildly reduced ejection fraction (n = 160; beta = −0.03 [−0.07 to 0.01], p = 0.200). Conclusions: In a European continental climate zone region, lower temperature was associated with a linear increase in subsequent HF decompensations. The sequelae of climate change on HF decompensations may burden healthcare systems in the future and should be systematically investigated in further studies. Full article
(This article belongs to the Special Issue Pathogenesis, Diagnosis, and Treatment of Cardiomyopathy)
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