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Cardiac Disease: Diagnosis, Treatment, and Outcomes

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A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Mechanisms of Diseases".

Deadline for manuscript submissions: closed (31 March 2022) | Viewed by 20575

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Prof. Dr. Pawel Rubis

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Guest Editor

1. Department of Cardiac and Vascular Diseases, John Paul II Hospital, 31-202 Krakow, Poland
2. Department of Cardiac and Vascular Disease, Jagiellonian University Medical College, 31-202 Krakow, Poland
Interests: heart failure; cardiomyopathies; cardiac fibrosis; magnetic resonance; biomarkers; risk scores

Special Issue Information

Dear Colleagues,

Improvements in the prevention of common cardiovascular risk factors and promotion of a healthy lifestyle has reduced the burden of cardiac diseases in developed countries; however, civilization-induced cardiac diseases are booming in the developing countries. Furthermore, cardiology does not concentrate only on common cardiac diseases, such as hypertension, dyslipidemia, or coronary artery disease. Instead, much rarer disorders, including cardiomyopathies, congenital heart diseases, pulmonary hypertension, etc., that are characterized with particularly high morbidity and mortality are also within the spectrum of modern cardiology. Regardless whether the cardiac disease is common or rare, the best possible diagnostics and treatment should be promptly initiated in order to achieve the best outcomes. Novel diagnostic imaging modalities are being constantly developed alongside with spectacular advances in laboratory diagnostics, including biomarker studies and molecular medicine. Similarly, novel therapies, some based on molecular methods are being tested in both common and less common diseases. Some unexpected results of those trials call for substantial changes in the daily management of patients. It is becoming clear that the “one size fits all” approach should no longer be a standard of care. On the contrary, a personalised (tailored) approach, based on diagnostics and therapeutic advances, should be the centre of decision-making process.

This Special Issue of the Journal of Personalized Medicine aims to highlight the current advances in cardiac diagnostics and therapeutics. Mainly, we call for papers that are focused on the field of modern diagnostic modalities and novel drugs that have potential to improve the outcomes in cardiac diseases. We encourage the submission of original articles and reviews which describe a personalized medicine approach to the diagnosis and therapies to cardiac diseases.

Prof. Dr. Pawel Rubis
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

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

Heart failure
Cardiomyopathy
Pulmonary hypertension
Comorbidities
Risk calculator

Published Papers (10 papers)

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Editorial

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3 pages, 176 KiB

Open AccessEditorial

Cardiac Disease: Diagnosis, Treatment, and Outcomes

by Paweł P. Rubiś

J. Pers. Med. 2022, 12(8), 1212; https://doi.org/10.3390/jpm12081212 - 26 Jul 2022

Viewed by 971

Abstract

Although the epidemiology—as well as the morbidity and mortality—of cardiovascular diseases (CVD) is a subject of constant change, nevertheless, CVDs are still the primary (or secondary at best after neoplasms) cause of deaths in developed countries [...] Full article

(This article belongs to the Special Issue Cardiac Disease: Diagnosis, Treatment, and Outcomes)

Research

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13 pages, 623 KiB

Open AccessArticle

Association between Large Arteries Diameter and Heart Function in Subjects Free of Cardiovascular Diseases

by Ricarda von Krüchten, Roberto Lorbeer, Annette Peters, Fabian Bamberg, Christopher L. Schlett and Blerim Mujaj

J. Pers. Med. 2022, 12(6), 889; https://doi.org/10.3390/jpm12060889 - 28 May 2022

Cited by 2 | Viewed by 1495

Abstract

To investigate the association between Aorta (Ao), pulmonary artery (PA) diameters and the PA/Ao ratio with right (RV) and left ventricle (LV) volumetric properties in subjects free of cardiovascular diseases. In the KORA-MRI study, 339 subjects (mean age 56.3 ± 9.1 years; 43.7% female) underwent whole-body 3T-MRI. Ao and PA were measured on DIXON sequences. Cvi42 quantified cardiac functional parameters from a SSFP sequence. The relationship between ascending (AAo), and descending aorta (DAo), as well as PA diameters, and RV and LV function were assessed using linear regression models adjusted for age, sex, and cardiovascular risk factors. AAo and DAo diameter were associated with LV end-diastolic volume (β = 4.52, p = 0.015; ß = 7.1, p ≤ 0.001), LV end-systolic volume (β = 2.37, p = 0.031; ß = 3.66, p = 0.002), while DAo associated with RV end-diastolic volume (β = 6.45, p = 0.006) and RV end-systolic volume (β = 3.9, p = 0.011). PA diameter was associated with LV end-diastolic volume (β = 4.81, p = 0.003). Interestingly, the PA/Ao ratio was only associated with RV end-diastolic and end-systolic volume (β = 4.48, p = 0.029; ß = 2.82, p = 0.037). Furthermore, we found different relationships between men and women. Ao and PA diameter were associated with LV and RV volumetric parameters in subjects free of cardiovascular diseases suggesting that ventricular volumetric performance directly relates to vascular diameter properties. Full article

(This article belongs to the Special Issue Cardiac Disease: Diagnosis, Treatment, and Outcomes)

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11 pages, 977 KiB

Open AccessArticle

The Relationship between Cardiac Magnetic Resonance-Assessed Replacement and Interstitial Fibrosis and Ventricular Arrhythmias in Hypertrophic Cardiomyopathy

by Aleksandra Karabinowska-Małocha, Ewa Dziewięcka, Paweł Banyś, Małgorzata Urbańczyk-Zawadzka, Maciej Krupiński, Małgorzata Mielnik, Jacek Łach, Aleksandra Budkiewicz, Piotr Podolec, Łukasz Żydzik, Sylwia Wiśniowska-Śmiałek, Katarzyna Holcman, Magdalena Kostkiewicz and Paweł Rubiś

J. Pers. Med. 2022, 12(2), 294; https://doi.org/10.3390/jpm12020294 - 17 Feb 2022

Cited by 4 | Viewed by 2573

Abstract

Non-sustained ventricular tachycardia (nsVT) creates the electrical basis for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM). We aimed to evaluate the relationship between interstitial fibrosis on cardiac magnetic resonance (CMR) and nsVT in HCM. A total of 50 HCM patients underwent CMR with a 3 T scanner to determine the presence of replacement fibrosis expressed by late gadolinium enhancement (LGE), and interstitial fibrosis expressed by native T₁, post-contrast T₁, and extracellular volume (ECV). The incidence of nsVT was assessed by Holter monitoring. We detected nsVT in 14 (28%) out of 50 HCM patients. Replacement fibrosis expressed by LGE was present in 37 (74%) patients and only showed a trend towards a differentiation between the groups with and without nsVT (p = 0.07). However, the extent of LGE was clearly higher in the nsVT group (3.8 ± 4.9% vs. 7.94 ± 4.5%, p = 0.002) and was an independent predictor of nsVT in a multivariable regression analysis (OR 1.2; 95%CI 1.02–1.4; p = 0.02). No relationship was observed between interstitial fibrosis and nsVT. To conclude, it was found that it is not the mere presence but the actual extent of LGE that determines the occurrence of nsVT in HCM patients; the role of interstitial fibrosis remains unclear. Full article

(This article belongs to the Special Issue Cardiac Disease: Diagnosis, Treatment, and Outcomes)

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Graphical abstract

12 pages, 4014 KiB

Open AccessArticle

Ultrastructural Changes in Mitochondria in Patients with Dilated Cardiomyopathy and Parvovirus B19 Detected in Heart Tissue without Myocarditis

by Agnieszka Pawlak, Magdalena Gewartowska, Maciej Przybylski, Mateusz Kuffner, Diana Wiligórska, Robert Gil, Zbigniew Król and Malgorzata Frontczak-Baniewicz

J. Pers. Med. 2022, 12(2), 177; https://doi.org/10.3390/jpm12020177 - 28 Jan 2022

Cited by 4 | Viewed by 2691

Abstract

Understanding the meaning of parvovirus B19 (PB19V) in an etiology of dilated cardiomyopathy (DCM) is difficult. Viruses change the dynamics of the mitochondria by interfering with the mitochondrial process/function, causing the alteration of mitochondrial morphology. In this study, the ultrastructural changes in the mitochondria in endomyocardial biopsy (EMB) samples from patients with DCM and PB19V were determined. Methods: The PB19V evaluation was performed in EMB specimens by real-time PCR in 20 patients (age: 28 ± 6 years). The biopsy specimens were examined by histo- and immunohistochemistry to detect the inflammatory response. The ultrastructural features of the mitochondria were evaluated by electron microscopy. Results: The presence of PB19V in the heart tissue without the presence of inflammatory process, defined according to Dallas and immunohistochemical criteria, was associated with ultrastructural changes in the mitochondria. Distinctive ultrastructural pathologies were indicated, such as the presence of mitochondria in the vicinity of the expanded sarcoplasmic reticulum with amorphous material, blurred structure of mitochondria, interrupted outer mitochondrial membrane and mitophagy. Conclusions: Extending diagnostics with ultrastructural analysis of biopsy samples provides new knowledge of the changes associated with the presence of PB19V in the heart tissue. The observed changes can be a basis for searching for the damage mechanisms, as well as for new therapeutic solutions. Full article

(This article belongs to the Special Issue Cardiac Disease: Diagnosis, Treatment, and Outcomes)

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14 pages, 1725 KiB

Open AccessArticle

Cardiac Remodeling According to the Nocturnal Fall of Blood Pressure in Hypertensive Subjects: The Whole Assessment of Cardiac Abnormalities in Non-Dipper Subjects with Arterial Hypertension (Wacanda) Study

by Domenico Di Raimondo, Gaia Musiari, Alessandra Casuccio, Daniela Colomba, Giuliana Rizzo, Edoardo Pirera, Antonio Pinto and Antonino Tuttolomondo

J. Pers. Med. 2021, 11(12), 1371; https://doi.org/10.3390/jpm11121371 - 15 Dec 2021

Cited by 3 | Viewed by 1913

Abstract

Objective: Several epidemiological studies suggest that the preservation of the physiological circadian rhythm of blood pressure or its disruption affects the extent of the organ damage developed by the patient. If we classify the circadian rhythm of blood pressure into four nocturnal profiles, significant differences emerge in terms of organ damage burden and prognosis: reverse dippers have the worst prognosis while dippers and mild dippers fall into an intermediate risk range. The risk profile of extreme dippers is still debated, and the available data are very conflicting and inconclusive. Starting from this gap of knowledge, we aimed to evaluate, retrospectively, in a cohort of hypertensive subjects, the degree of cardiac involvement in relation to the different nocturnal blood pressure profiles. Methods: We retrospectively evaluated 900 patients with essential hypertension, of whom 510 met our study criteria. We graded the 510 patients in relation to the percentage of reduction in mean systolic blood pressure (SBP) at night-time compared with day-time, considering this as a continuous variable, and then compared the extreme quintiles with each other and with the middle quintile (considered as reference). Results: Patients with less (or no) reduction in nocturnal SBP (reverse dipper) showed a higher level of organ damage and comorbidities. With regard to echocardiographic indexes, patients with maximum nocturnal pressure reduction (extreme dipper) showed a lower level of remodeling and/or impairment of E/e’ ratio, Right Atrium Area, Basal Right Ventricular Diameter, Inferior Vena Cava Average Diameter, and Tricuspidal Anular Plane Systolic Excursion compared also with hypertensive patients with a physiological nocturnal pressure reduction, even after correction for the main confounders. Conclusions: These data suggest that extreme dippers may constitute the subgroup of hypertensive patients with the lowest 24-h pressure load and, therefore, less cardiac remodeling. Full article

(This article belongs to the Special Issue Cardiac Disease: Diagnosis, Treatment, and Outcomes)

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Graphical abstract

12 pages, 2301 KiB

Open AccessFeature PaperArticle

Convolutional Neural Networks for Fully Automated Diagnosis of Cardiac Amyloidosis by Cardiac Magnetic Resonance Imaging

by Asan Agibetov, Andreas Kammerlander, Franz Duca, Christian Nitsche, Matthias Koschutnik, Carolina Donà, Theresa-Marie Dachs, René Rettl, Alessa Stria, Lore Schrutka, Christina Binder, Johannes Kastner, Hermine Agis, Renate Kain, Michaela Auer-Grumbach, Matthias Samwald, Christian Hengstenberg, Georg Dorffner, Julia Mascherbauer and Diana Bonderman

J. Pers. Med. 2021, 11(12), 1268; https://doi.org/10.3390/jpm11121268 - 1 Dec 2021

Cited by 7 | Viewed by 1872

Abstract

Aims: We tested the hypothesis that artificial intelligence (AI)-powered algorithms applied to cardiac magnetic resonance (CMR) images could be able to detect the potential patterns of cardiac amyloidosis (CA). Readers in CMR centers with a low volume of referrals for the detection of myocardial storage diseases or a low volume of CMRs, in general, may overlook CA. In light of the growing prevalence of the disease and emerging therapeutic options, there is an urgent need to avoid misdiagnoses. Methods and Results: Using CMR data from 502 patients (CA: n = 82), we trained convolutional neural networks (CNNs) to automatically diagnose patients with CA. We compared the diagnostic accuracy of different state-of-the-art deep learning techniques on common CMR imaging protocols in detecting imaging patterns associated with CA. As a result of a 10-fold cross-validated evaluation, the best-performing fine-tuned CNN achieved an average ROC AUC score of 0.96, resulting in a diagnostic accuracy of 94% sensitivity and 90% specificity. Conclusions: Applying AI to CMR to diagnose CA may set a remarkable milestone in an attempt to establish a fully computational diagnostic path for the diagnosis of CA, in order to support the complex diagnostic work-up requiring a profound knowledge of experts from different disciplines. Full article

(This article belongs to the Special Issue Cardiac Disease: Diagnosis, Treatment, and Outcomes)

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13 pages, 2748 KiB

Open AccessArticle

Is the Median Hourly Ambulatory Heart Rate Range Helpful in Stratifying Mortality Risk among Newly Diagnosed Atrial Fibrillation Patients?

by Hsing-Yu Chen, John Malik, Hau-Tieng Wu and Chun-Li Wang

J. Pers. Med. 2021, 11(11), 1202; https://doi.org/10.3390/jpm11111202 - 14 Nov 2021

Cited by 2 | Viewed by 1557

Abstract

Background: The application of heart rate variability is problematic in patients with atrial fibrillation (AF). This study aims to explore the associations between all-cause mortality and the median hourly ambulatory heart rate range (

{\tilde{A H R R}}_{24 h r}

) [...] Read more.

{\tilde{A H R R}}_{24 h r}

) compared with other parameters obtained from the Holter monitor in patients with newly diagnosed AF. Material and Methods: A total of 30 parameters obtained from 521 persistent AF patients’ Holter monitor were analyzed retrospectively from 1 January 2010 to 31 July 2014. Every patient was followed up to the occurrence of death or the end of 30 June 2017. Results:

{\tilde{A H R R}}_{24 h r}

was the most feasible Holter parameter. Lower

{\tilde{A H R R}}_{24 h r}

was associated with increased risk of all-cause mortality (adjusted hazard ratio [aHR] for every 10-bpm reduction: 2.70, 95% confidence interval [CI]: 1.75–4.17, p < 0.001). The C-statistic of

{\tilde{A H R R}}_{24 h r}

alone was 0.707 (95% CI: 0.658–0.756), and 0.697 (95% CI: 0.650–0.744) for the CHA2DS2-VASc score alone. By combining

{\tilde{A H R R}}_{24 h r}

with the CHA2DS2-VASc score, the C-statistic could improve to 0.764 (95% CI: 0.722–0.806). While using 20 bpm as the cut-off value, the aHR was 3.66 (95% CI: 2.05–6.52) for patients with

{\tilde{A H R R}}_{24 h r}

< 20 bpm in contrast to patients with

{\tilde{A H R R}}_{24 h r}

≥ 20 bpm. Conclusions:

{\tilde{A H R R}}_{24 h r}

could be helpful for risk stratification for AF in addition to the CHA2DS2-VASc score. Full article

(This article belongs to the Special Issue Cardiac Disease: Diagnosis, Treatment, and Outcomes)

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12 pages, 2712 KiB

Open AccessArticle

Inter- and Intraobserver Repeatability of Myocardial Flow Reserve Values Determined with SPECT Study Using a Discovery NM530c Camera and Corridor 4DM Software

by Paweł Cichocki, Michał Błaszczyk, Kamila Cygulska, Krzysztof Filipczak, Zbigniew Adamczewski, Jacek Kuśmierek, Piotr Lipiec, Jarosław Damian Kasprzak and Anna Płachcińska

J. Pers. Med. 2021, 11(11), 1164; https://doi.org/10.3390/jpm11111164 - 9 Nov 2021

Cited by 5 | Viewed by 1556

Abstract

Background: Myocardial blood flow (MBF) and flow reserve (MFR) examination, especially useful in the diagnosis of multivessel coronary artery disease (CAD), can be assessed with a cadmium-zinc-telluride (CZT) SPECT gamma camera, as an alternative to the expensive and less available PET. However, study processing is not free from subjective factors. Therefore, this paper aims to evaluate intra- and interobserver repeatability of MBF and MFR values obtained by the same operator and two independent operators. Methods: This study included 57 adult patients. MBF and MFR were assessed using a Discovery NM530c camera in a two-day, rest/dipyridamople protocol, using ^99mTc-MIBI. Data were processed using Corridor4DM software, twice by one operator and once by another operator. Results: The repeatability of the assessed values was quite good in the whole myocardium, LAD and LCX vascular territories, but was poor in the RCA territory. Conclusions: The poor repeatability of MBF and MFR in RCA vascular territory can be explained by poor automatic orientation of the heart axis during post-processing and a so-called “cardiac creep” phenomenon. Better automatic heart orientation and introduction of automatic motion correction is likely to drastically improve this repeatability. In the present state of the software, PET is better for patients requiring assessment of MFR in the RCA territory. Full article

(This article belongs to the Special Issue Cardiac Disease: Diagnosis, Treatment, and Outcomes)

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Review

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20 pages, 835 KiB

Open AccessReview

Towards Personalized Therapy of Aortic Stenosis

by Piotr Mazur, Magdalena Kopytek, Michał Ząbczyk, Anetta Undas and Joanna Natorska

J. Pers. Med. 2021, 11(12), 1292; https://doi.org/10.3390/jpm11121292 - 3 Dec 2021

Cited by 2 | Viewed by 2535

Abstract

Calcific aortic stenosis (CAS) is the most common cause of acquired valvular heart disease in adults with no available pharmacological treatment to inhibit the disease progression to date. This review provides an up-to-date overview of current knowledge of molecular mechanisms underlying CAS pathobiology and the related treatment pathways. Particular attention is paid to current randomized trials investigating medical treatment of CAS, including strategies based on lipid-lowering and antihypertensive therapies, phosphate and calcium metabolism, and novel therapeutic targets such as valvular oxidative stress, coagulation proteins, matrix metalloproteinases, and accumulation of advanced glycation end products. Full article

(This article belongs to the Special Issue Cardiac Disease: Diagnosis, Treatment, and Outcomes)

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Other

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11 pages, 6274 KiB

Open AccessCase Report

Frenemies within: An Endocarditis Case in Behçet’s Disease

by Diana Moroșan, Adela Șerban, Cătălin Trifan, Svetlana Encica, Sorin Pop, Tudor Costinel Șerban, Simona Rednic and Laura Damian

J. Pers. Med. 2021, 11(8), 728; https://doi.org/10.3390/jpm11080728 - 27 Jul 2021

Cited by 2 | Viewed by 2401

Abstract

A 57-year female patient diagnosed with Behçet’s disease, on azathioprine, was noticed to have at a routine examination antinuclear and antiphospholipid antibodies. An overlapping lupus-like syndrome was diagnosed; hydroxychloroquine and aspirin were added. Three years later, the patient presented with dyspnea and sweating, with no fever. A cardiac bruit was noted; a giant vegetation was detected by echocardiography. Laboratory revealed severe thrombocytopenia, antiphospholipid antibodies and low complement. Blood cultures were positive for Abiotrophia defectiva serology and also revealed a chronic Coxiella burnetii infection. Antibiotic therapy, low-dose anticoagulation and control of the underlying disease mildly improved the platelet count, which fully recovered only after cardiac valve replacement. However, the Behçet’s disease, initially quiescent, flared after the therapy of infections. We discuss potential links between Behçet’s disease and the occurrence of antinuclear and antiphospholipid antibodies and Coxiella endocarditis in this setting. We also highlight the differences between the endocarditis in Behçet’s disease, antiphospholipid syndrome, Coxiella burnetii and Abiotrophia defectiva infection, respectively. Intracellular infections may modify the presentation of autoimmune diseases. Confounding clinical features of Coxiella persistent infection and non-bacterial thrombotic endocarditis in Behçet’s disease warrant further insight. Full article

(This article belongs to the Special Issue Cardiac Disease: Diagnosis, Treatment, and Outcomes)

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