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: 15 August 2024 | Viewed by 3045

Special Issue Editors


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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

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Guest Editor

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

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Keywords

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

Published Papers (2 papers)

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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
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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, 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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