Article
Genetics & Heredity
Chunhui Huang, Yonghong Zheng, Wei Zhang, Zhigang Chen, Zhixin Huang, Yuan Fang
Summary: We reported the first case of familial hypertrophic cardiomyopathy caused by a novel FLNC splicing mutation in China. Duo exome sequencing revealed a heterozygous mutation in the FLNC gene as a potential cause of autosomal dominant HCM. Treatment with furosemide, spironolactone, and metoprolol improved the patient's heart function and alleviated symptoms.
FRONTIERS IN GENETICS
(2022)
Review
Cardiac & Cardiovascular Systems
Xing Li, Jie Tang, Jinhui Li, Sha Lin, Tao Wang, Kaiyu Zhou, Yifei Li, Yimin Hua
Summary: Genetic mutations may serve as an early indication for ICD placement in pediatric HCM patients, predicting earlier onset of cardiac hypertrophy and increased risk of SCD. Early recognition and intervention are crucial for children with HCM. Further research is needed to determine if this applies to the majority of pediatric patients.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Agriculture, Dairy & Animal Science
K. O'Donnell, D. Adin, C. E. Atkins, T. DeFrancesco, B. W. Keene, S. Tou, K. M. Meurs
Summary: The study evaluated the presence of known MYBPC3 and MYH7 variants in cats with HCM and found that these variants are not common in non-Maine Coon and non-Ragdoll populations. The clinical utility of genetic testing for these variants may be limited to the specific cat breeds in which they have been identified. Further research is needed to identify causative variants for the feline HCM population.
Article
Cardiac & Cardiovascular Systems
Tomer Poleg, Marina Eskin-Schwartz, Regina Proskorovski-Ohayon, Ilana Aminov, Vadim Dolgin, Nadav Agam, Matan Jean, Amit Safran, Ofek Freund, Aviva Levitas, Yuval Konstantino, Ohad S. Birk, Roi Westreich, Moti Haim
Summary: Hypertrophic and dilated cardiomyopathy are leading causes of cardiovascular diseases in children. Mutations in the ALPK3 gene are found to be associated with these two types of cardiomyopathy. Carrying two ALPK3 mutations can lead to infantile-onset hypertrophic cardiomyopathy, while carrying only one mutation is associated with adult-onset hypertrophic cardiomyopathy.
JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Anna Orlova, Daria Guseva, Oxana Ryzhkova
Summary: This study described a new case of severe dilated cardiomyopathy caused by a frameshift mutation in the CASZ1 gene. The clinical presentation was similar to previous studies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Josefine D. S. Borch, Thomas Krag, Sonja D. Holm-Yildiz, Hakan Cetin, Tuva A. Solheim, Freja Fornander, Volker Straub, Morten Duno, John Vissing
Summary: We report three men with novel variants in FHL1 leading to EDMD6. Late onset of muscle symptoms and mild muscle weakness were observed in these patients. All patients had hypertrophic cardiomyopathy, and one of them also had cardiac arrhythmias. Western blot analysis showed no expression of FHL1 protein in muscle biopsies from two patients. Our findings suggest that complete loss of all FHL1 isoforms is less detrimental than the toxic effects of expressed FHL1 protein with pathogenic missense variants.
Article
Clinical Neurology
Payam Mohassel, Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J. Bradley, Sandra Donkervoort, Soledad Monges, Julie S. Cohen, Doris G. Leung, Francina Munell, Carlos Ortez, Angel Sanchez-Montanez, Peter Karachunski, John Brandsema, Livija Medne, Vinay Chaudhry, Giorgio Tasca, A. Reghan Foley, Bjarne Udd, Andrew E. Arai, Glenn A. Walter, Carsten G. Bonnemann
Summary: In this study, we examined FHL1-related reducing body myopathy patients using muscle ultrasound, muscle MRI, and cardiac MRI. The results showed that muscle ultrasound and muscle MRI are practical and informative tools for diagnosis and monitoring of disease progression.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Jirko Kuehnisch, Simon Theisen, Josephine Dartsch, Raphaela Fritsche-Guenther, Marieluise Kirchner, Benedikt Obermayer, Anna Bauer, Anne-Karin Kahlert, Michael Rothe, Dieter Beule, Arnd Heuser, Philipp Mertins, Jennifer A. Kirwan, Nikolaus Berndt, Calum A. Macrae, Norbert Hubner, Sabine Klaassen
Summary: Monoallelic, global Prdm16 mutation diminishes cardiac performance in Prdm16csp1/wt mice. Metabolic alterations and transcriptional dysregulation in Prdm16csp1/wt affect cardiac tissue. Female Prdm16csp1/wt mice develop a more pronounced phenotype, indicating sexual dimorphism at this early pathological window. This study suggests that metabolic dysregulation is an early event in the PRDM16 associated cardiac pathology.
CARDIOVASCULAR RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Ivan Kiselev, Maxim Kozin, Natalia Baulina, Maria Pisklova, Ludmila Danilova, Alexandr Zotov, Olga Chumakova, Dmitry Zateyshchikov, Olga Favorova
Summary: Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease, and its pathogenesis is characterized by significant genetic and phenotypic heterogeneity. This study analyzed gene expression profiles and DNA methylation profiles in hypertrophied myocardia of HCM patients to identify new genes involved in HCM development. The results showed that innervation-associated genes are implicated in HCM, providing new insights into disease pathogenesis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Medicine, General & Internal
Enrica Chiti, Marco Paolo, Emanuela Turillazzi, Anna Rocchi
Summary: MiRNAs are small non-coding RNAs involved in regulating biochemical pathways in the human body; their levels can be altered due to pathophysiological mechanisms, making them potential biomarkers for cardiac diseases and other pathological conditions. This review summarizes findings of miRNA biomarkers in the three most common structural cardiomyopathies.
Review
Biochemistry & Molecular Biology
Hamza El Hadi, Anne Freund, Steffen Desch, Holger Thiele, Nicolas Majunke
Summary: Cardiomyopathies are a diverse group of heart muscle disorders with potentially fatal consequences such as arrhythmias and heart failure. They are a leading cause of heart transplantation worldwide. Recent advancements in understanding the molecular basis and diagnostic evaluation have paved the way for targeted therapies. However, further research is needed to improve risk assessment and prevention strategies for sudden cardiac death.
Article
Biotechnology & Applied Microbiology
Hao Huang, Yaqin Chen, Jieyuan Jin, Ran Du, Ke Tang, Liangliang Fan, Rong Xiang
Summary: This study investigated a Chinese family with HCM and identified a nonsense mutation in the CSRP3 gene through WES and Sanger sequencing, leading to a truncated protein. This is the first case of this variation in Asia, contributing to genetic diagnosis and counseling for the family.
JOURNAL OF GENE MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Tiange Li, Yuxi Jin, Rui Liu, Yimin Hua, Kaiyu Zhou, Shuhua Luo, Yifei Li, Donghui Zhang
Summary: This case report describes a girl with HCM who has novel compound heterozygous variants in the ALPK3 gene identified through whole-exome sequencing. These variants are potentially associated with the disease.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Hyemoon Chung, Yoonjung Kim, Chul-Hwan Park, Jong-Youn Kim, Pil-Ki Min, Young Won Yoon, Tae Hoon Kim, Byoung Kwon Lee, Bum-Kee Hong, Se-Joong Rim, Hyuck Moon Kwon, Kyung-A Lee, Eui-Young Choi
Summary: Sarcomere mutations are significantly associated with an increase in myocardial fibrosis, while mitochondria-related mutations do not have a significant impact. Patients with sarcomere mutations show higher levels of myocardial fibrosis, while those with mitochondria-related mutations do not exhibit a significant increase in myocardial fibrosis.
JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE
(2021)
Review
Medicine, General & Internal
Andrea Ottaviani, Davide Mansour, Lorenzo V. Molinari, Kristian Galanti, Cesare Mantini, Mohammed Y. Khanji, Anwar A. Chahal, Marco Zimarino, Giulia Renda, Luigi Sciarra, Francesco Pelliccia, Sabina Gallina, Fabrizio Ricci
Summary: This narrative review provides a comprehensive overview of current clinical practice and emerging therapeutic strategies for sarcomeric HCM, with a focus on cardiac myosin inhibitors. It highlights the limitations of conventional management and discusses recent advances in molecular genetics and emerging therapies, including gene editing, RNA-based therapies, and targeted small molecules. It emphasizes the importance of multidisciplinary care and patient-centered approaches, as well as the need for further research and collaboration in the field of HCM.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Joanna Schneider, Devakumar Sundaravinayagam, Alexander Blume, Andreas Marg, Stefanie Grunwald, Eric Metzler, Helena Escobar, Stefanie Muethel, Haicui Wang, Tobias Wollersheim, Steffen Weber-Carstens, Altuna Akalin, Michela Di Virgilio, Baris Tursun, Simone Spuler
Summary: Critical illness myopathy (CIM) is a devastating muscle-wasting disease that has a significant impact on healthcare costs and quality of life. Impairment of muscle stem cells (MuSC) and epigenetic alterations may contribute to the incomplete recovery observed in CIM patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Louise Benarroch, Gisele Bonne, Francois Rivier, Dalil Hamroun
NEUROMUSCULAR DISORDERS
(2023)
Article
Cardiac & Cardiovascular Systems
Bobak Heydari, Alessandro Satriano, Michael Jerosch-Herold, Paul Kolm, Dong-Yun Kim, Kathleen Cheng, Yuna L. Choi, Panagiotis Antiochos, James A. White, Masliza Mahmod, Kenneth Chan, Betty Raman, Milind Y. Desai, Carolyn Y. Ho, Sarahfaye F. Dolman, Patrice Desvigne-Nickens, Martin S. Maron, Matthias G. Friedrich, Jeanette Schulz-Menger, Stefan K. Piechnik, Evan Appelbaum, William S. Weintraub, Stefan Neubauer, Christopher M. Kramer, Raymond Y. Kwong
Summary: The study found that abnormal global longitudinal strain is associated with adverse cardiac outcomes in hypertrophic cardiomyopathy, and is also correlated with other imaging markers and serum biomarkers.
JACC-CARDIOVASCULAR IMAGING
(2023)
Article
Multidisciplinary Sciences
Darian Viezzer, Thomas Hadler, Clemens Ammann, Edyta Blaszczyk, Maximilian Fenski, Thomas Hiroshi Grandy, Jens Wetzl, Steffen Lange, Jeanette Schulz-Menger
Summary: This study proposes a cascaded segmentation (CASEG) approach to improve automatic image segmentation quality in cardiovascular magnetic resonance. Two CASEG variants were evaluated and compared to a classical U-Net segmentation. The results showed significant improvement in the Dice Similarity Coefficient with CASEG, but no significant improvement in the mean absolute error of the T1 time.
SCIENTIFIC REPORTS
(2023)
Article
Clinical Neurology
Tanya Stojkovic, Marion Masingue, Corinne Metay, Norma B. Romero, Bruno Eymard, Rabah Ben Yaou, Laetitia Rialland, Severine Drunat, Corine Gartioux, Isabelle Nelson, Valerie Allamand, Gisele Bonne, Rocio Nur Villar-Quiles
Summary: We report three siblings with a contractural limb-girdle phenotype and intrafamilial variability in a non-consanguineous family. Muscle MRI revealed involvement of the posterior thigh and quadriceps with a sandwich-like sign. Whole exome sequencing identified two compound heterozygous missense TTN variants and one heterozygous LAMA2 variant. Further brain MRI revealed white-matter abnormalities, and genetic analysis confirmed a novel pathogenic intronic LAMA2 variant for the LAMA2-RD diagnosis. This work emphasizes the importance of comprehensive clinical phenotyping and brain imaging to guide and interpret genetic analysis.
JOURNAL OF NEUROMUSCULAR DISEASES
(2023)
Review
Biochemistry & Molecular Biology
Laurane Mackels, Xincheng Liu, Gisele Bonne, Laurent Servais
Summary: Human TOR1AIP1 encodes LAP1, a nuclear envelope protein expressed in most human tissues, which has been linked to various human diseases. Mutations in TOR1AIP1 is associated with diseases such as muscular dystrophy, congenital myasthenic syndrome, cardiomyopathy, and multisystemic disease. Understanding LAP1 and mutant TOR1AIP1-associated phenotypes is crucial for therapeutic development.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cardiac & Cardiovascular Systems
Markus Huellebrand, Lina Jarmatz, Chiara Manini, Ann Laube, Matthias Ivantsits, Jeanette Schulz-Menger, Sarah Nordmeyer, Andreas Harloff, Jochen Hansmann, Sebastian Kelle, Anja Hennemuth
Summary: 4D PC MRI of the aorta has become a routine method for quantitative assessment of flow patterns, but the clinical application of complex flow patterns still poses challenges. This study presents a concept of applying radiomics to quantitatively characterize flow patterns in the aorta and selects reproducible parameters for differentiation of flow properties related to sex, age, and disease. The suitability of these reproducible features for characterizing different flow profile types is evaluated using user-selected examples. In the future, these signatures could be used for quantitative flow assessment in clinical studies or disease phenotyping.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Clemens Ammann, Thomas Hadler, Jan Groeschel, Christoph Kolbitsch, Jeanette Schulz-Menger
Summary: The aim of this study was to analyze and compare the performance of three popular CNN models for cardiac function quantification. The results showed strong correlation between the models and expert segmentations in terms of quantitative clinical parameters. However, all models encountered difficulties and failures in segmenting the basal and apical slices.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Stephanie Wiesemann, Ralf Felix Trauzeddel, Ahmed Musa, Richard Hickstein, Thomas Mayr, Florian von Knobelsdorff-Brenkenhoff, Emilie Bollache, Michael Markl, Jeanette Schulz-Menger
Summary: Non-invasive assessment of aortic hemodynamics using 4D flow MRI provides new information on blood flow patterns and wall shear stress. This study investigates changes in aortic hemodynamics in patients with aortic valve stenosis and/or bicuspid aortic valves after aortic valve replacement.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Engineering, Biomedical
Chiara Manini, Olena Nemchyna, Serdar Akansel, Lars Walczak, Lennart Tautz, Christoph Kolbitsch, Volkmar Falk, Simon Suendermann, Titus Kuehne, Jeanette Schulz-Menger, Anja Hennemuth
Summary: The purpose of this study is to develop a numerical simulation framework for the evaluation of MRI imaging strategies for the mitral valve. Synthetic images are generated by combining individual anatomical 3D models with a position-based dynamics simulation of the mitral valve closure. The suitability of the imaging strategy is evaluated by comparing MV segmentations against ground truth annotations, and the radial image sampling strategy is found to be the most suitable for MV assessment.
INTERNATIONAL JOURNAL OF COMPUTER ASSISTED RADIOLOGY AND SURGERY
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Jan Groeschel, Johanna Kuhnt, Darian Viezzer, Thomas Hadler, Sophie Hormes, Phillip Barckow, Jeanette Schulz-Menger, Edyta Blaszczyk
Summary: This study aimed to compare strain values derived from AI-based contours with manually derived strain values. The results showed that AI-derived strain values overestimated radial strain, while underestimating circumferential and longitudinal strain.
EUROPEAN RADIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Jan Groeschel, Ralf-Felix Trauzeddel, Maximilian Mueller, Florian von Knobelsdorff-Brenkenhoff, Darian Viezzer, Thomas Hadler, Edyta Blaszczyk, Elias Daud, Jeanette Schulz-Menger
Summary: This exploratory study aims to assess whether multi-site studies that control confounding factors provide first insights whether parametric mapping values are within pre-defined tolerance ranges across scanners and sites.
JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE
(2023)
Article
Cardiac & Cardiovascular Systems
Lilia M. Sierra-Galan, Edgar E. S. Estrada-Lopez, Victor A. Ferrari, Subha V. Raman, Vanessa M. Ferreira, Vimaj Raj, Elizabeth Joseph, Jeanette Schulz-Menger, Carmen W. S. Chan, Sylvia S. M. Chen, Yuchen Cheng, Juliano De Lara Fernandez, Masahiro Terashima, Timothy S. E. Albert
Summary: The use of cardiovascular magnetic resonance (CMR) has expanded worldwide, and there are practice differences between different regions and centers. CMR is mainly performed in large hospitals, with adult cardiologists being the primary referring providers. Evaluation of cardiomyopathy is common in both high-volume and low-volume centers, while ischemic heart disease evaluation is more common in high-volume centers and viability assessment is more common in low-volume centers. Developed and developing countries face different barriers to CMR adoption.
JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE
(2023)
Review
Cardiac & Cardiovascular Systems
Florian von Knobelsdorff-Brenkenhoff, Jeanette Schulz-Menger
Summary: This study summarizes the current evidence and role of cardiovascular magnetic resonance (CMR) in the guidelines of the European Society of Cardiology (ESC). It found that 70.4% of the guidelines contain relevant text passages regarding CMR, with 92 specific recommendations regarding its use. Most of the recommendations have level C evidence and cover various aspects of CMR applications.
JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE
(2023)
