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JCDD
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Hypertrophic Cardiomyopathy: Pathogenesis, Diagnosis and Management
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Hypertrophic Cardiomyopathy: Pathogenesis, Diagnosis and Management

A special issue of Journal of Cardiovascular Development and Disease (ISSN 2308-3425). This special issue belongs to the section "Cardiovascular Clinical Research".

Deadline for manuscript submissions: closed (15 August 2024) | Viewed by 6206

Special Issue Editors

Dr. Dan G. Halpern

E-Mail Website
Guest Editor
Leon H. Charney Division of Cardiology, Department of Medicine, New York University Langone Health, New York, NY 10016, USA
Interests: cardiology; congenital heart disease; hypertrophic cardiomyopathy
Dr. Óscar Lorenzo González

E-Mail Website
Guest Editor
School of Medicine, Universidad Autonoma de Madrid, 28049 Madrid, Spain
Interests: diabetes; obesity; cardiomyopathy
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The journal JCDD is currently running a Special Issue entitled "Hypertrophic Cardiomyopathy: Pathogenesis, Diagnosis and Management". Hypertrophic cardiomyopathy (HCM) diagnosis and care represent the culmination of years of scientific investigation and medical expertise, in which effective treatment strategies now result in close to similar longevity of the general population. The aim of this Special Issue is to present research related to HCM such as genetic diagnosis of HCM, the debate on population screening of HCM, cardio-imaging and its role in sudden cardiac death risk stratification of HCM, the mechanism of ventricular obstruction in HCM, upcoming investigational medical therapies in HCM and current HCM surgical practices for ventricular obstruction.

Dr. Dan G. Halpern
Dr. Óscar Lorenzo González
Guest Editors

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 Cardiovascular Development and Disease 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 2700 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

  • hypertrophic cardiomyopathy
  • cardiac overload
  • cardiac remodeling
  • pro-hypertrophic factors
  • pro-fibrotic-factors

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Published Papers (4 papers)

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21 pages, 2983 KiB  
Article
FGFR4 Is Required for Concentric Growth of Cardiac Myocytes during Physiologic Cardiac Hypertrophy
by Isaac Campos, Beatrice Richter, Sarah Madison Thomas, Brian Czaya, Christopher Yanucil, Dominik Kentrup, Abul Fajol, Qing Li, Stephen M. Secor and Christian Faul
J. Cardiovasc. Dev. Dis. 2024, 11(10), 320; https://doi.org/10.3390/jcdd11100320 - 12 Oct 2024
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Abstract
Fibroblast growth factor (FGF) 23 is a bone-derived hormone that promotes renal phosphate excretion. Serum FGF23 is increased in chronic kidney disease (CKD) and contributes to pathologic cardiac hypertrophy by activating FGF receptor (FGFR) 4 on cardiac myocytes, which might lead to the [...] Read more.
Fibroblast growth factor (FGF) 23 is a bone-derived hormone that promotes renal phosphate excretion. Serum FGF23 is increased in chronic kidney disease (CKD) and contributes to pathologic cardiac hypertrophy by activating FGF receptor (FGFR) 4 on cardiac myocytes, which might lead to the high cardiovascular mortality in CKD patients. Increases in serum FGF23 levels have also been observed following endurance exercise and in pregnancy, which are scenarios of physiologic cardiac hypertrophy as an adaptive response of the heart to increased demand. To determine whether FGF23/FGFR4 contributes to physiologic cardiac hypertrophy, we studied FGFR4 knockout mice (FGFR4−/−) during late pregnancy. In comparison to virgin littermates, pregnant wild-type and FGFR4−/− mice showed increases in serum FGF23 levels and heart weight; however, the elevation in myocyte area observed in pregnant wild-type mice was abrogated in pregnant FGFR4−/− mice. This outcome was supported by treatments of cultured cardiac myocytes with serum from fed Burmese pythons, another model of physiologic hypertrophy, where the co-treatment with an FGFR4-specific inhibitor abrogated the serum-induced increase in cell area. Interestingly, we found that in pregnant mice, the heart, and not the bone, shows elevated FGF23 expression, and that increases in serum FGF23 are not accompanied by changes in phosphate metabolism. Our study suggests that in physiologic cardiac hypertrophy, the heart produces FGF23 that contributes to hypertrophic growth of cardiac myocytes in a paracrine and FGFR4-dependent manner, and that the kidney does not respond to heart-derived FGF23. Full article
(This article belongs to the Special Issue Hypertrophic Cardiomyopathy: Pathogenesis, Diagnosis and Management)
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13 pages, 3127 KiB  
Article
Phospholamban p.Leu39* Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review
by Andreea Sorina Afana, Laura Vasiliu, Radu Sascău, Robert Daniel Adam, Cristina Rădulescu, Sebastian Onciul, Eliza Cinteză, Adela Chirita-Emandi and Ruxandra Jurcuț
J. Cardiovasc. Dev. Dis. 2024, 11(2), 41; https://doi.org/10.3390/jcdd11020041 - 28 Jan 2024
Cited by 2 | Viewed by 2231
Abstract
Hypertrophic cardiomyopathy (HCM) is a heterogeneous genetic disorder, most often caused by sarcomeric gene mutations, with a small proportion due to variants in non-sarcomeric loci. Phospholamban (PLN) is a phosphoprotein associated with the cardiac sarcoplasmic reticulum, a major determinant of cardiac contractility and [...] Read more.
Hypertrophic cardiomyopathy (HCM) is a heterogeneous genetic disorder, most often caused by sarcomeric gene mutations, with a small proportion due to variants in non-sarcomeric loci. Phospholamban (PLN) is a phosphoprotein associated with the cardiac sarcoplasmic reticulum, a major determinant of cardiac contractility and relaxation. We conducted a retrospective study to determine the prevalence, phenotypical spectrum and clinical course of patients carrying the PLN p.Leu39* variant. A cohort including 11 PLN patients was identified among all patients with HCM (9/189, 4.8%) and DCM (2/62, 3.2%) who underwent genetic testing from two tertiary centers and five more were detected through cascade screening. Complete phenotyping was performed. PLN p.Leu39* variant-driven cardiomyopathy presented mostly as hypertrophic, with frequent progression to end-stage dilated HCM. We proceeded to compare these results to a similar analysis of a control cohort consisting of age-matched individuals that inherited pathogenic or likely pathogenic variants in common sarcomeric genes (MYBPC3/MYH7). Overall, the clinical characteristics and examination findings of patients carrying PLN p.Leu39* were not different from patients with cardiomyopathy related to sarcomeric mutations except for the presence of pathological Q waves and the incidence of non-sustained ventricular arrhythmias, which were higher in PLN patients than in those with MYBPC3/MYH7-related diseases. Full article
(This article belongs to the Special Issue Hypertrophic Cardiomyopathy: Pathogenesis, Diagnosis and Management)
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8 pages, 725 KiB  
Case Report
Septal Myectomy in Patients with Hypertrophic Cardiomyopathy and Nonclassical Anderson–Fabry Disease
by Alexandr Gurschenkov, Sofiya Andreeva, Vadim Zaitsev, Pavel Khazov, Gleb Ischmukhametov, Alexandra Kozyreva, Polina Sokolnikova, Olga Moiseeva, Anna Kostareva and Mikhail Gordeev
J. Cardiovasc. Dev. Dis. 2024, 11(9), 293; https://doi.org/10.3390/jcdd11090293 - 20 Sep 2024
Viewed by 739
Abstract
Anderson–Fabry disease (AFD) results from decreased enzyme activity of lysosomal enzymes and intralysosomal storage of nonhydrolyzed forms. Cardiovascular complications, mainly in the form of HCM, contribute substantially to AFD patient mortality. Here, we report three new cases of obstructive HCM (HOCM) in nonclassical [...] Read more.
Anderson–Fabry disease (AFD) results from decreased enzyme activity of lysosomal enzymes and intralysosomal storage of nonhydrolyzed forms. Cardiovascular complications, mainly in the form of HCM, contribute substantially to AFD patient mortality. Here, we report three new cases of obstructive HCM (HOCM) in nonclassical presentations of AFD and isolated cardiac involvement. In all three cases, the diagnosis of AFD was made postoperatively by routine genetic and morphological testing. Together with previously published cases, this report illustrates the potential safety and beneficial effect of septal surgical myectomy in patients with AFD-HOCM, as well as underlines the need for more thorough screening for clinical signs of AFD-associated cardiomyopathy and GLA variants among patients with HOCM. Full article
(This article belongs to the Special Issue Hypertrophic Cardiomyopathy: Pathogenesis, Diagnosis and Management)
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8 pages, 378 KiB  
Brief Report
The Clinical Impact of SARS-CoV-2 on Hypertrophic Cardiomyopathy
by Danish Saleh, Zhiying Meng, Nicholas Johnson, Abigail Baldridge, Allison R. Zielinski and Lubna Choudhury
J. Cardiovasc. Dev. Dis. 2024, 11(4), 104; https://doi.org/10.3390/jcdd11040104 - 29 Mar 2024
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Abstract
Background: This study aims to understand and describe the clinical impact of SARS-CoV-2 (COVID-19) infection in patients with Hypertrophic Cardiomyopathy (HCM). Methods: A data repository of over 6.6 million patients in a large metropolitan (Chicago IL) healthcare system was queried to identify adults [...] Read more.
Background: This study aims to understand and describe the clinical impact of SARS-CoV-2 (COVID-19) infection in patients with Hypertrophic Cardiomyopathy (HCM). Methods: A data repository of over 6.6 million patients in a large metropolitan (Chicago IL) healthcare system was queried to identify adults with a history of HCM and COVID-19 infection between 2019 and 2021. Propensity score-matched analysis was performed based on age, sex, BMI, and elements of the cardiovascular history, including tobacco use, hypertension, hyperlipidemia, myocardial injury, and heart failure. Results: Individuals with HCM and COVID-19 infection had more total hospitalizations (41.6 v 23 per 100 persons, p < 0.01), more heart-failure-related hospitalizations (24.2 v 8.7 per 100-persons, p < 0.01), more non-ST elevation myocardial injury (NSTEMI) hospitalizations (8.6 v 4.6 per 100-persons, p < 0.01), and increased mortality (10.8 v 5 per 100-persons, p < 0.01) compared to HCM patients without a history of COVID-19 infection. Patients with HCM and COVID-19 were also noted to have a higher peak CRP when compared to those without prior COVID-19 (Inter-quartile range of 9.0–106.9 v 1.8–21.3, p < 0.01). Conclusions: In patients with HCM, COVID-19 infection is associated with increased incidence of myocardial injury, increased number of total and heart-failure specific hospitalizations, and increased mortality. Full article
(This article belongs to the Special Issue Hypertrophic Cardiomyopathy: Pathogenesis, Diagnosis and Management)
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