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 816

Special Issue Editor


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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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Keywords

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

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Published Papers (2 papers)

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Research

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
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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
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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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