Cardiomyopathy and Precision Medicine

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Methodology, Drug and Device Discovery".

Deadline for manuscript submissions: closed (31 July 2022) | Viewed by 11970

Special Issue Editor


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Guest Editor
Department of Cardiology, National Defense Medical College, Tokorozawa, Saitama 359, Japan
Interests: heart failure; cardiomyopathy; autoimmunity; microbitoa; biomarkers; genetic testing
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Special Issue Information

Dear Colleagues,

The diagnosis of the most common forms of cardiomyopathies, dilated and hypertrophic cardiomyopathies, have long been based on morphology and function by non-invasive diagnostic modalities (e.g., echocardiography). In addition, despite extensive studies on biophysical, cellular, and animal models, the current approaches to the management of patients with cardiomyopathies remain largely unchanged.

Recent advances in genetics, proteomics, metabolomics, and microbiomics broadened our understanding of the molecular and cellular pathophysiology of cardiovascular diseases including cardiomyopathies, which can potentially lead to more precise risk prediction and the discovery of the optimal treatment strategies for individual patient. Also, novel approaches such as artificial intelligence and machine learning to medical big data from various sources includng clinical registries, electronic health records, biomarkers, medical images, and all spectrum of ‘omics’ data (e.g., genomic, proteomic, and metabolomic data) have a huge potential of empowering personalized medicine for cardiomyopathy patients.

This Special Issue of the Journal of Personalized Medicine aims to highlight the current knowledge and future perspectives in the potential analytic approaches leading to personalized medicine for cardiomyopathies.

Dr. Yuji Nagatomo
Guest Editor

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Keywords

  • Cardiomyopathy
  • Personalized medicine
  • Genetics
  • Proteomics
  • Metabolomics
  • Microbiomics
  • Genome-wide association study
  • Single nucleotide polymorphism
  • Artificial intelligence
  • Machine learning

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Published Papers (5 papers)

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Editorial

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3 pages, 167 KiB  
Editorial
A Long Road to Personalized Medicine in Heart Failure and Cardiomyopathies
by Yuji Nagatomo
J. Pers. Med. 2023, 13(1), 141; https://doi.org/10.3390/jpm13010141 - 11 Jan 2023
Cited by 1 | Viewed by 1416
Abstract
Over the past few decades, a drastic increase in the prevalence of heart failure (HF) has been observed worldwide, and is now often referred to as the “Heart failure pandemic” [...] Full article
(This article belongs to the Special Issue Cardiomyopathy and Precision Medicine)

Research

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12 pages, 1705 KiB  
Article
Transthyretin Amyloid Cardiomyopathy: Impact of Transthyretin Amyloid Deposition in Myocardium on Cardiac Morphology and Function
by Tomoya Nakano, Kenji Onoue, Chiyoko Terada, Satoshi Terasaki, Satomi Ishihara, Yukihiro Hashimoto, Yasuki Nakada, Hitoshi Nakagawa, Tomoya Ueda, Ayako Seno, Taku Nishida, Makoto Watanabe, Yoshinobu Hoshii, Kinta Hatakeyama, Yasuhiro Sakaguchi, Chiho Ohbayashi and Yoshihiko Saito
J. Pers. Med. 2022, 12(5), 792; https://doi.org/10.3390/jpm12050792 - 13 May 2022
Cited by 3 | Viewed by 2466
Abstract
Background: Transthyretin (TTR) amyloid cardiomyopathy (ATTR-CM) is increasingly being recognized as a cause of left ventricular (LV) hypertrophy (LVH) and progressive heart failure in elderly patients. However, little is known about the cardiac morphology of ATTR-CM and the association between the degree of [...] Read more.
Background: Transthyretin (TTR) amyloid cardiomyopathy (ATTR-CM) is increasingly being recognized as a cause of left ventricular (LV) hypertrophy (LVH) and progressive heart failure in elderly patients. However, little is known about the cardiac morphology of ATTR-CM and the association between the degree of TTR amyloid deposition and cardiac dysfunction in these patients. Methods: We studied 28 consecutive patients with ATTR-CM and analyzed the relationship between echocardiographic parameters and pathological features using endomyocardial biopsy samples. Results: The cardiac geometries of patients with ATTR-CM were mainly classified as concentric LVH (96.4%). The relative wall thickness, a marker of LVH, tended to be positively correlated with the degree of non-cardiomyocyte area. The extent of TTR deposition was positively correlated with enlargement of the non-cardiomyocyte area, and these were positively correlated with LV diastolic dysfunction. Additionally, the extent of the area containing TTR was positively correlated with the percentage of cardiomyocyte nuclei stained for 8-hydroxy-2′deoxyguanosine, a marker of reactive oxygen species (ROS). ROS accumulation in cardiomyocytes was positively correlated with LV systolic dysfunction. Conclusion: Patients with ATTR-CM mainly displayed concentric LVH geometry. TTR amyloid deposition was associated with cardiac dysfunction via increased non-cardiomyocyte area and ROS accumulation in cardiomyocytes. Full article
(This article belongs to the Special Issue Cardiomyopathy and Precision Medicine)
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12 pages, 1896 KiB  
Article
Personalized Target Heart Rate for Patients with Heart Failure and Reduced Ejection Fraction
by Yusuke Yumita, Yuji Nagatomo, Makoto Takei, Mike Saji, Ayumi Goda, Takashi Kohno, Shintaro Nakano, Yosuke Nishihata, Yukinori Ikegami, Yasuyuki Shiraishi, Shun Kohsaka, Takeshi Adachi and Tsutomu Yoshikawa
J. Pers. Med. 2022, 12(1), 50; https://doi.org/10.3390/jpm12010050 - 5 Jan 2022
Cited by 3 | Viewed by 2380
Abstract
The optimal heart rate (HR) in patients with heart failure with reduced ejection fraction (HFrEF) has been ill-defined. Recently, a formula was proposed for estimating the target heart rate (THR), which eliminates the overlap between the E and A wave (E-A overlap). We [...] Read more.
The optimal heart rate (HR) in patients with heart failure with reduced ejection fraction (HFrEF) has been ill-defined. Recently, a formula was proposed for estimating the target heart rate (THR), which eliminates the overlap between the E and A wave (E-A overlap). We aim to validate its prognostic significance in the multicenter WET-HF registry. This study used data from 647 patients with HFrEF hospitalized for acute decompensated HF (ADHF). The patients were divided into the 2 groups by THR. The primary endpoint was defined as the composite of all-cause death and ADHF readmission. The THR successfully discriminated the incidence of the primary endpoint, whereas no significant difference was observed in the primary endpoint when dividing the patients by uniform cutoff 70 bpm. HR at discharge ≤ THR was inversely associated with the primary endpoint. Restricted cubic spline analysis demonstrated the difference between HR at discharge, and THR (ΔHR) from −10 to ±0 was associated with a lower risk of primary endpoint and ΔHR from ±0 to +15 was associated with a higher risk. THR discriminated long-term outcomes in patients with HFrEF more efficiently than the uniform cutoff, suggesting that it may aid in tailored HR reduction strategies. Full article
(This article belongs to the Special Issue Cardiomyopathy and Precision Medicine)
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11 pages, 2409 KiB  
Article
Very Long-Term Follow-Up in Cardiac Resynchronization Therapy: Wider Paced QRS Equals Worse Prognosis
by Patrick Leitz, Julia Köbe, Benjamin Rath, Florian Reinke, Gerrit Frommeyer, Christian Andresen, Fatih Güner, Julian Wolfes, Philipp S. Lange, Christian Ellermann, Lars Eckardt and Dirk G. Dechering
J. Pers. Med. 2021, 11(11), 1176; https://doi.org/10.3390/jpm11111176 - 11 Nov 2021
Cited by 1 | Viewed by 1556
Abstract
Background: Different electrocardiogram (ECG) findings are known to be independent predictors of clinical response to cardiac resynchronization therapy (CRT). It remains unknown how these findings influence very long-term prognosis. Methods and Results: A total of 102 consecutive patients (75 males, mean age 65 [...] Read more.
Background: Different electrocardiogram (ECG) findings are known to be independent predictors of clinical response to cardiac resynchronization therapy (CRT). It remains unknown how these findings influence very long-term prognosis. Methods and Results: A total of 102 consecutive patients (75 males, mean age 65 ± 10 years) referred to our center for CRT implantation had previously been included in this prospective observational study. The same patient group was now re-evaluated for death from all causes over a prolonged median follow-up of 10.3 years (interquartile range 9.4–12.5 years). During follow-up, 55 patients died, and 82% of the clinical non-responders (n = 23) and 44% of the responders (n = 79) were deceased. We screened for univariate associations and found QRS width during biventricular (BIV) pacing (p = 0.02), left ventricular (LV) pacing (p < 0.01), Δ LV paced–right ventricular (RV) paced (p = 0.03), age (p = 0.03), New York Heart Association (NYHA) class (p < 0.01), CHA2DS2-Vasc score (p < 0.01), glomerular filtration rate (p < 0.01), coronary artery disease (p < 0.01), non-ischemic cardiomyopathy (NICM) (p = 0.01), arterial hypertension (p < 0.01), NT-proBNP (p < 0.01), and clinical response to CRT (p < 0.01) to be significantly associated with mortality. In the multivariate analysis, NICM, the lower NYHA class, and smaller QRS width during BIV pacing were independent predictors of better outcomes. Conclusion: Our data show that QRS width duration during biventricular pacing, an ECG parameter easily obtainable during LV lead placement, is an independent predictor of mortality in a long-term follow-up. Our data add further evidence that NICM and lower NYHA class are independent predictors for better outcome after CRT implantation. Full article
(This article belongs to the Special Issue Cardiomyopathy and Precision Medicine)
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Review

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13 pages, 2679 KiB  
Review
Diagnostic Challenges in Rare Causes of Arrhythmogenic Cardiomyopathy—The Role of Cardiac MRI
by Simona Manole, Roxana Pintican, George Popa, Raluca Rancea, Alexandra Dadarlat-Pop, Romana Vulturar and Emanuel Palade
J. Pers. Med. 2022, 12(2), 187; https://doi.org/10.3390/jpm12020187 - 31 Jan 2022
Cited by 5 | Viewed by 3158
Abstract
Arrhythmogenic right ventricular dysplasia (ARVD) is a rare genetic condition of the myocardium, with a significantly high risk of sudden death. Recent genetic research and improved understanding of the pathophysiology tend to change the ARVD definition towards a larger spectrum of myocardial involvement, [...] Read more.
Arrhythmogenic right ventricular dysplasia (ARVD) is a rare genetic condition of the myocardium, with a significantly high risk of sudden death. Recent genetic research and improved understanding of the pathophysiology tend to change the ARVD definition towards a larger spectrum of myocardial involvement, which includes, in various proportions, both the right (RV) and left ventricle (LV), currently referred to as ACM (arrhythmogenic cardiomyopathy). Its pathological substrate is defined by the replacement of the ventricular myocardium with fibrous adipose tissue that further leads to inadequate electrical impulses and translates into varies degrees of malignant ventricular arrythmias and dyskinetic myocardium movements. Particularly, the cardio-cutaneous syndromes of Carvajal/Naxos represent rare causes of ACM that might be suspected from early childhood. The diagnostic is sometimes challenging, even with well-established rTFC or Padua criteria, especially for pediatric patients or ACM with LV involvement. Cardiac MRI gain more and more importance in ACM diagnostic especially in non-classical forms. Furthermore, MRI is useful in highlighting myocardial fibrosis, fatty replacement or wall movement with high accuracy, thus guiding not only the depiction, but also the patient’s stratification and management. Full article
(This article belongs to the Special Issue Cardiomyopathy and Precision Medicine)
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