Article
Cardiac & Cardiovascular Systems
Nianwei Zhou, Haobo Weng, Weipeng Zhao, Lu Tang, Zhendan Ge, Fangyan Tian, Fangmin Meng, Cuizhen Pan, Xianhong Shu
Summary: This study aimed to investigate the relationship between hypertrophic patterns and genetic variants in HCM patients, contributing to personalized management strategies. Genetic mutations were evaluated in 392 HCM-affected families using Whole Exome Sequencing, and echocardiographic data were collected. The study revealed that HCM patients with gene mutations were more likely to have enhanced septal and interventricular septal thickness. Different gene mutations were associated with specific hypertrophic patterns, providing valuable diagnostic insights.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2023)
Review
Cardiac & Cardiovascular Systems
Alessia Paldino, Maddalena Rossi, Matteo Dal Ferro, Irena Tavcar, Elijah Behr, Sanjay Sharma, Michael Papadakis, Gianfranco Sinagra, Gherardo Finocchiaro
Summary: GEN+PHEN- individuals carry pathogenic genetic variants without phenotypic manifestation of the disease, which poses challenges in clinical management. The variable expressivity of genetic variants within the same family and the unpredictable conversion to overt phenotype complicate decision-making in sports participation. Current guidelines acknowledge the lack of evidence and uncertainties in managing GEN+PHEN- individuals.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2023)
Review
Cardiac & Cardiovascular Systems
Brittney Murray, Cynthia A. James
Summary: The definition of arrhythmogenic cardiomyopathy (ACM) has expanded to include other genetic cardiomyopathies. Emerging data on genotype-phenotype correlations reinforce the importance of genetic testing in clinical management of ACM patients.
CURRENT CARDIOLOGY REPORTS
(2022)
Review
Medicine, General & Internal
Francesca Graziano, Alessandro Zorzi, Alberto Cipriani, Manuel De Lazzari, Barbara Bauce, Ilaria Rigato, Giulia Brunetti, Kalliopi Pilichou, Cristina Basso, Martina Perazzolo Marra, Domenico Corrado
Summary: Arrhythmogenic Cardiomyopathy (ACM) is a heredo-familial cardiac disease that requires a combination of criteria from different categories for diagnosis. The Padua criteria, proposed in 2020, modify the criteria for right ventricular involvement and include specific criteria for left ventricular involvement.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Cardiac & Cardiovascular Systems
Zhe Yang, Jia Chen, Hong Li, Yubi Lin
Summary: Restrictive cardiomyopathy is a rare cardiac muscle disease characterized by impaired ventricular filling and severe diastolic dysfunction. It leads to poor prognosis and increased risk of sudden cardiac death, especially in young individuals. The etiology of RCM can be idiopathic, familial or acquired from systemic diseases. Familial RCM is often caused by mutations in sarcomere protein genes, while a minority is caused by mutations in non-sarcomeric proteins and transthyretin proteins. It is important to identify the genotype-phenotype associations for proper clinical diagnosis and treatment.
REVIEWS IN CARDIOVASCULAR MEDICINE
(2022)
Review
Medicine, General & Internal
Amir Aziz, Szymon K. Musiol, William E. Moody, Luke Pickup, Rob Cooper, Gregory Y. H. Lip
Summary: The main predictors of informative genetic testing for hypertrophic cardiomyopathy include age, septal thickness, family history, and absence of hypertension. Using clinical predictors to decide whom to test is a feasible alternative to investigating all comers, but further validation is needed to make a concrete recommendation.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Dermatology
Weilong Zhong, Linghan Hu, Xu Cao, Jiahui Zhao, Xianning Zhang, Mingyang Lee, Huijun Wang, Jie Zhang, Quan Chen, Cheng Feng, Lina Duo, Xiuli Wang, Li Tang, Zhimiao Lin, Yong Yang
Summary: The study identified new and recurrent variations in the TRPV3 gene in patients with Olmsted syndrome, finding that variations in specific regions of the gene significantly enhance channel function and lead to severe phenotypes, while other variations have milder effects.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Toshihiro Moriki, Toru Kubo, Kenta Sugiura, Yuri Ochi, Yuichi Baba, Takayoshi Hirota, Naohito Yamasaki, Akinori Kimura, Yoshinori L. Doi, Hiroaki Kitaoka
Summary: A study involving 209 Japanese HCM patients found that the Mayo Clinic HCM genotype predictor score is useful for predicting positive genetic test results. The study showed that there is an incremental increase in genetic testing yield with higher prediction scores.
CIRCULATION JOURNAL
(2021)
Article
Physics, Multidisciplinary
Pablo Catalan, Juan Antonio Garcia-Martin, Jacobo Aguirre, Jose A. Cuesta, Susanna Manrubia
Summary: Not all phenotypes are equally accessible to evolving populations. Larger phenotypes resulting from a variety of genotypes are more common and easily maintained. Genotypes that map to these phenotypes form connected networks, allowing access to numerous alternative phenotypes. The reproductive ability and topology of the genotype network impact the fitness of a phenotype, and a fraction of phenotypes is unattainable.
JOURNAL OF PHYSICS A-MATHEMATICAL AND THEORETICAL
(2023)
Review
Biochemistry & Molecular Biology
Takanobu Yamada, Seitaro Nomura
Summary: Advancements in NGS have made genetic analysis more accessible, leading to discoveries about the role of rare variants in cardiomyopathy and the variability of clinical courses based on causative genes. These findings extend beyond traditional types of cardiomyopathy to include conditions like PPCM, CTRCD, and ACM, sparking progress in understanding mechanisms and developing new therapies. Recent studies also suggest a contribution of common variants in cardiomyopathy development, marking a new era in the field of cardiomyopathy and genetics.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Bin Li, Zheng Wang, Qian Chen, Kuokuo Li, Xiaomeng Wang, Yijing Wang, Qian Zeng, Ying Han, Bin Lu, Yuwen Zhao, Rui Zhang, Li Jiang, Hongxu Pan, Tengfei Luo, Yi Zhang, Zhenghuan Fang, Xuewen Xiao, Xun Zhou, Rui Wang, Lu Zhou, Yige Wang, Zhenhua Yuan, Lu Xia, Jifeng Guo, Beisha Tang, Kun Xia, Guihu Zhao, Jinchen Li
Summary: To address the challenge of accessing detailed clinical phenotypic features of patients with genetic variants, researchers developed an online database called GPCards, which integrates genetic and clinical data to provide interpretation of genotype-phenotype correlations and prioritization of candidate functional variants. This tool accelerates the interpretation of genotype-phenotype correlations in human genetic diseases and aids researchers in making faster diagnostic and treatment decisions.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2021)
Article
Endocrinology & Metabolism
Peng Tang, Jun Zhang, Song Peng, Yapeng Wang, Haoyang Li, Ze Wang, Yao Zhang, Yiqiang Huang, Jing Xu, Dianzheng Zhang, Qiuli Liu, Luofu Wang, Weihua Lan, Jun Jiang
Summary: 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia. This study analyzed 15 patients from three families and found that different phenotypes were caused by different CYP21A2 mutations. Gender and mutation type influence the phenotypes, and genetic analysis can aid in the diagnosis of atypical 21-hydroxylase deficiency patients.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Medicine, General & Internal
Giulia Mattesi, Alberto Cipriani, Barbara Bauce, Ilaria Rigato, Alessandro Zorzi, Domenico Corrado
Summary: ACM is an inherited heart muscle disease that can lead to sudden cardiac arrhythmias and death, with a focus on right ventricular involvement, although recent studies have shown left ventricular involvement as well. Different gene mutations are associated with different phenotypic expressions of ACM.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Tatiana Shashkova, Eugene D. Pakhomov, Denis D. Gorev, Lennart C. Karssen, Peter K. Joshi, Yurii S. Aulchenko
Summary: PheLiGe is a database that provides easy access to a vast array of genotype-phenotype association results through a web interface. It allows for investigation of regional genotype-phenotype associations across many phenotypes, giving insights into the biological function affected by the variant in question.
NUCLEIC ACIDS RESEARCH
(2021)
Article
Clinical Neurology
Jian Xue, Dong-Xue Ding, Guang-Yu Xu, Pu-Zhi Wang, Yi-Lun Ge, Jin-Ru Zhang, Xiao-Yu Cheng, Yi-Ming Wang, Hong Jin, Si-Yang Luo, Yu-Han Zheng, Jing Chen, Fen Wang, Dan Li, Cheng-Jie Mao, Kai Li, Chun-Feng Liu
Summary: This study found that LOF or more deleterious missense mutations are more likely to promote the development of serious phenotype of PLA2G6-associated neurodegeneration (PLAN), and LOF mutations are independently associated with brain iron accumulation and ataxia.
PARKINSONISM & RELATED DISORDERS
(2023)
Article
Cardiac & Cardiovascular Systems
Luis R. Lopes, Maria-Angela Losi, Nabeel Sheikh, Cecile Laroche, Philippe Charron, Juan Gimeno, Juan P. Kaski, Aldo P. Maggioni, Luigi Tavazzi, Eloisa Arbustini, Dulce Brito, Jelena Celutkiene, Albert Hagege, Ales Linhart, Jens Mogensen, Jose Manuel Garcia-Pinilla, Tomas Ripoll-Vera, Hubert Seggewiss, Eduardo Villacorta, Alida Caforio, Perry M. Elliott
Summary: Common cardiovascular risk factors are associated with a more severe form of hypertrophic cardiomyopathy, suggesting the need for proactive management. There is an interaction between genotype and cardiovascular risk factors in certain traits.
EUROPEAN HEART JOURNAL-QUALITY OF CARE AND CLINICAL OUTCOMES
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Josef Marek, Kristyna Bayerova, Petr Kuchynka, Vladimir Cerny, Ales Linhart
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2023)
Article
Cardiac & Cardiovascular Systems
Shohreh Honarbakhsh, Alexander Protonotarios, Christopher Monkhouse, Ross J. Hunter, Perry M. Elliott, Pier D. Lambiase
Summary: The aim of this study was to characterize VA events in ARVC patients and investigate if certain parameters can predict specific VA events. The results showed that ARVC patients had a high rate of VA events, with most of them being VT resulting in ICD shocks. Severely impaired RV function was an independent predictor of VT resulting in ATP.
Article
Cardiac & Cardiovascular Systems
Josef Marek, Barbora Chocholova, Daniel Rob, Tomas Palecek, Martin Masek, Gabriela Dostalova, Ales Linhart
Summary: This study assessed the relationship between 3D left ventricular strain and heart failure severity, late gadolinium enhancement scar on CMR, and long-term prognosis in patients with Fabry disease. The results showed that N-terminal pro-brain natriuretic peptide levels were more strongly correlated with 3D left ventricular global longitudinal strain (GLS) than with global circumferential strain (GCS) or LV ejection fraction (LVEF). Furthermore, 3D LV-GLS was associated with long-term prognosis, while GLS and LVEF were not. Therefore, 3D LV-GLS can be used to assess heart failure severity and predict long-term prognosis in patients with Fabry disease.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2023)
Article
Genetics & Heredity
Stefania Lenarduzzi, Beatrice Spedicati, Beatrice Alessandrini, Paola Tesolin, Alessia Paldino, Marta Gigli, Gianfranco Sinagra, Paolo Gasparini, Matteo Dal Ferro, Giorgia Girotto
Summary: This study focuses on the genetic characterization of hereditary cardiovascular diseases, including cardiomyopathies, channelopathies, and aortopathies and pulmonary arterial hypertension. The majority of patients analyzed in this study were affected by cardiomyopathies, and a higher detection rate was observed in familial forms compared to sporadic cases. Further clinical follow-up and reevaluation of genetic data will be necessary for patients with negative results.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Davide Stolfo, Lars H. Lund, Gianfranco Sinagra, Felix Lindberg, Ulf Dahlstrom, Giuseppe Rosano, Gianluigi Savarese
Summary: This study found that predictors of renin-angiotensin system inhibitors/angiotensin receptor neprilysin inhibitors (RASI/ARNI) and beta-blockers use in heart failure patients include hypertension, younger age, outpatient care, and specialty treatment. The use of these medications was associated with lower risk of cardiovascular mortality/hospitalization and all-cause mortality in a matched cohort. Positive control analysis confirmed these findings, and there were no associations with the negative control outcome.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR PHARMACOTHERAPY
(2023)
Review
Biology
Justyna Grzechocinska, Agata Tyminska, Andrea Silvio Giordani, Julia Wysinska, Ewa Ostrowska, Anna Baritussio, Alida Linda Patrizia Caforio, Marcin Grabowski, Renzo Marcolongo, Krzysztof Ozieranski
Summary: Immunosuppressive therapy, particularly the combination of azathioprine and steroids, is crucial in preventing the progression of myocarditis, and ensuring its safety and appropriateness in treating autoimmune/immune-mediated, virus-negative myocarditis.
Review
Biology
Emil Brociek, Agata Tyminska, Andrea Silvio Giordani, Alida Linda Patrizia Caforio, Romuald Wojnicz, Marcin Grabowski, Krzysztof Ozieranski
Summary: Myocarditis is an inflammatory disease of the myocardium caused by infectious or non-infectious agents. It can lead to serious short-term and long-term sequalae, such as sudden cardiac death or dilated cardiomyopathy. This review aims to summarize the available evidence on the etiology and pathogenesis of myocarditis and its impact on disease course and patient management.
Article
Cardiac & Cardiovascular Systems
Elena Arbelo, Alexandros Protonotarios, Juan R. Gimeno, Eloisa Arbustini, Roberto Barriales-Villa, Cristina Basso, Connie R. Bezzina, Elena Biagini, Nico A. Blom, Rudolf A. de Boer, Tim De Winter, Perry M. Elliott, Marcus Flather, Pablo Garcia-Pavia, Kristina H. Haugaa, Jodie Ingles, Ruxandra Oana Jurcut, Sabine Klaassen, Giuseppe Limongelli, Bart Loeys, Jens Mogensen, Iacopo Olivotto, Antonis Pantazis, Sanjay Sharma, J. Peter Van Tintelen, James S. Ware, Juan Pablo Kaski
EUROPEAN HEART JOURNAL
(2023)
Letter
Cardiac & Cardiovascular Systems
Perry Elliott, Balarama Gundapaneni, Pablo Garcia-Pavia
EUROPEAN JOURNAL OF HEART FAILURE
(2023)
Review
Cardiac & Cardiovascular Systems
Sayed Al-Aidarous, Alexandros Protonotarios, Perry M. Elliott, Pier D. Lambiase
Summary: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease characterized by myocardial fibrofatty replacement due to specific mutations, resulting in ventricular arrhythmias and sudden cardiac death. Treating this condition is challenging due to fibrosis progression, phenotypic variations, and limited clinical trials. While beta-blockers are theoretically effective, their efficacy in reducing arrhythmic risk is not strong. Emerging evidence suggests that combining flecainide and bisoprolol may be effective. Radiofrequency ablation and stereotactic radiotherapy show potential in disrupting ventricular circuits and modifying myocardial fibrosis. Future therapies, such as adenoviruses and GSk3b modulation, are still in early-stage research. Implantable cardioverter-defibrillator implantation reduces arrhythmic death but comes with risks.
Article
Genetics & Heredity
Ales Linhart, Gabriela Dostalova, Kathy Nicholls, Michael L. West, Camilla Tondel, Ana Jovanovic, Pilar Giraldo, Bojan Vujkovac, Tarekegn Geberhiwot, Einat Brill-Almon, Sari Alon, Raul Chertkoff, Rossana Rocco, Derralynn Hughes
Summary: This study evaluates the safety and efficacy of Pegunigalsidase alfa in Fabry disease patients. The results demonstrate its good tolerability and effectiveness, making it a potential alternative treatment option for patients previously treated with Agalsidase alfa.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Cardiac & Cardiovascular Systems
Elisabetta Salvioni, Alice Bonomi, Damiano Magri, Marco Merlo, Beatrice Pezzuto, Mattia Chiesa, Massimo Mapelli, Nikita Baracchini, Gianfranco Sinagra, Massimo Piepoli, Piergiuseppe Agostoni
Summary: Cardiopulmonary exercise tests (CPET) are crucial for evaluating the functional capacity of chronic heart failure (HF) patients. The MECKI score, developed by a group of Italian centers skilled in HF management and CPET analysis, has been extensively validated and shown to be effective in risk stratification for HF. The MECKI score research group has grown over time and is now investigating other areas such as cardiomyopathy.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2023)
Letter
Cardiac & Cardiovascular Systems
Alberto Guarnaccia, Gianfranco Sinagra, John G. F. Cleland
Article
Genetics & Heredity
Eric L. Wallace, Ozlem Goker-Alpan, William R. Wilcox, Myrl Holida, John Bernat, Nicola Longo, Ales Linhart, Derralynn A. Hughes, Robert J. Hopkin, Camilla Tondel, Mirjam Langeveld, Pilar Giraldo, Antonio Pisani, Dominique Paul Germain, Ankit Mehta, Patrick B. Deegan, Maria Judit Molnar, Damara Ortiz, Ana Jovanovic, Michael Muriello, Bruce A. Barshop, Virginia Kimonis, Bojan Vujkovac, Albina Nowak, Tarekegn Geberhiwot, Ilkka Kantola, Jasmine Knoll, Stephen Waldek, Khan Nedd, Amel Karaa, Einat Brill-Almon, Sari Alon, Raul Chertkoff, Rossana Rocco, Anat Sakov, David G. Warnock
Summary: Pegunigalsidase alfa was found to be non-inferior to agalsidase beta in terms of eGFR decline over 2 years, and pegunigalsidase alfa had lower rates of treatment-related adverse events and mild to moderate infusion-related reactions.
JOURNAL OF MEDICAL GENETICS
(2023)
