Article
Biochemistry & Molecular Biology
Robert S. Leigh, Mika J. Valimaki, Bogac L. Kaynak, Heikki J. Ruskoaho
Summary: Heart formation requires transcriptional regulators and fetal gene program. Missense variants of congenital heart disease (CHD) disrupt specific protein domains, leading to CHDs. Chemical screening, gene expression analysis, and in vitro study identified a TAF1 bromodomain inhibitor, which modulates cardiac transcription and reveals an epigenetically-driven CHD mechanism.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2023)
Article
Pediatrics
Danielle S. Burstein, J. William Gaynor, Heather Griffis, Alyssa Ritter, Matthew J. O'Connor, Joseph W. Rossano, Kimberly Y. Lin, Rebecca C. Ahrens-Nicklas
Summary: This study found that increased genetic variant burden, including pathogenic variants and variants of unknown significance (VUS), is associated with worse clinical outcomes in dilated cardiomyopathy (DCM) but not in hypertrophic cardiomyopathy (HCM) in pediatric patients. Genetic variants that influence the onset of CM may differ from those driving disease progression, highlighting the potential value of universal genetic testing for risk stratification in pediatric CM.
PEDIATRIC RESEARCH
(2021)
Article
Cell Biology
Zachariah E. Hale, Junichi Sadoshima
Summary: Primary cilia play a significant role in congenital heart disease and cardiac pathology. The loss of primary cilia function has been linked to heart failure and other cardiovascular abnormalities. Further research is needed to explore the specific mechanisms of primary cilia in adult cardiac pathology, especially heart failure.
Review
Cardiac & Cardiovascular Systems
Minh B. Nguyen, Seema Mital, Luc Mertens, Aamir Jeewa, Mark K. Friedberg, Julien Aguet, Arnon Adler, Christopher Z. Lam, Andreea Dragulescu, Harry Rakowski, Olivier Villemain
Summary: This review examines the association between genetic variations and outcomes in pediatric hypertrophic cardiomyopathy (HCM), discussing current approaches to phenotyping cardiovascular characteristics and exploring potential avenues for improving risk assessment of sudden cardiac death in children with HCM.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Medicine, General & Internal
Tracey Thompson, Ashley Phimister, Alexander Raskin
Summary: Heart failure occurs as a result of pressure or volume overload in congenital and acquired heart diseases, and its treatment varies depending on the underlying cause.
MEDICAL CLINICS OF NORTH AMERICA
(2024)
Article
Surgery
Takashi Harano, Megha Sheth, Kazunari Sasaki, Jeremy Yu, Sean C. C. Wightman, Scott M. M. Atay, Sandeep Sainathan, Anthony W. W. Kim
Summary: This study compared the survival outcomes, waitlist mortality, and waitlist days of heart transplantation between pediatric foreign nationals and pediatric United States citizens. The study found that heart transplantation for pediatric foreign nationals, mainly indicated for cardiomyopathy, had a significantly higher transplant rate and better survival outcomes compared to pediatric United States citizens. This difference in survival outcomes may be attributed to the differing diagnoses for which transplantation was performed.
CLINICAL TRANSPLANTATION
(2023)
Article
Pharmacology & Pharmacy
Stephanie Laeer, Willi Cawello, Bjoern B. Burckhardt, Laszlo Ablonczy, Milica Bajcetic, Johannes M. P. J. Breur, Michiel Dalinghaus, Christoph Male, Saskia N. de Wildt, Joerg Breitkreutz, Muhammed Faisal, Anne Keatley-Clarke, Ingrid Klingmann, Florian B. Lagler
Summary: This study investigated the pharmacokinetics of enalapril in pediatric heart failure patients using a novel oral disintegrating tablet formulation, finding the rate and extent of enalapril and its active metabolite, and supporting the tolerability and safety of the appropriate dosing schedule.
Review
Cardiac & Cardiovascular Systems
Sabine Klaassen, Jirko Kuehnisch, Alina Schultze-Berndt, Franziska Seidel
Summary: Left ventricular noncompaction (LVNC) is a ventricular wall anomaly characterized by numerous prominent trabeculations and deep intertrabecular recesses. The outcome of pediatric LVNC is determined by the interplay of genetics, morphology, and function.
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2022)
Article
Multidisciplinary Sciences
Yukinobu Ito, Makoto Yoshida, Hirotake Masuda, Daichi Maeda, Yukitsugu Kudo-Asabe, Michinobu Umakoshi, Hiroshi Nanjo, Akiteru Goto
Summary: This study investigated morphological differences in intercalated discs (ICDs) in patients with DCM, and found that reduced N-cadherin immunostaining intensity and ICD scattering were specific to DCM. The results suggest that disorganized ICDs contribute to the development of DCM and that N-cadherin immunostaining is useful for pathological diagnosis.
SCIENTIFIC REPORTS
(2021)
Review
Cardiac & Cardiovascular Systems
Nazia Hilal, Zi Chen, Ming Hui Chen, Sangita Choudhury
Summary: RAS proteins act as binary switches in signaling, but can be permanently activated in diseases like cancer and RASopathies due to mutations. The exact mechanisms of RAS protein regulation are still unclear. RAS/MAPK syndromes are developmental disorders caused by genetic mutations in genes associated with the RAS/mitogen-activated protein kinase pathway, affecting 1 in 1,000-2,500 children. These syndromes have overlapping features and an association with cardiomyopathy and congenital heart disease. Despite progress in understanding RASopathies, there are still unidentified causal genes in patients diagnosed with RASopathies.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Review
Medicine, General & Internal
Birgit J. Gerecke, Rolf Engberding
Summary: Noncompaction cardiomyopathy has gained attention in the past two decades, but is still rarely considered in clinical practice, lacking generally accepted diagnostic criteria. Recent studies have uncovered new pathogenetic and pathophysiologic aspects, but there is still a lack of current summary and evaluation of clinical patient management.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Cell Biology
Kavitha S. Rao, Vasumathi Kameswaran, Benoit G. Bruneau
Summary: Congenital heart defects are common birth defects with unknown causes. Recent development of experimental models, including mouse models and human cellular models, have helped to enhance our understanding of the molecular basis of these defects. The development of cardiac organoids also shows promise in creating more anatomically informative human models of congenital heart defects.
GENES & DEVELOPMENT
(2022)
Article
Cardiac & Cardiovascular Systems
Giulia Poretti, Stiljan Hoxha, Antonio Segreto, Gardellini Jacopo, Camilla Sandrini, Giuseppe Faggian, Alessandro Varrica, Massimo Chessa, Alessandro Giamberti, Giovanni Battista Luciani
Summary: Cryoablation for supraventricular arrhythmias in ACHD patients is a safe and effective procedure with a low risk of recurrence, and surgical treatment should be considered when further open-heart repair is needed.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Medicine, Research & Experimental
Samadrita Bhattacharyya, Rahul K. Kollipara, Gabriela Orquera-Tornakian, Sean Goetsch, Minzhe Zhang, Cameron Perry, Boxun Li, John M. Shelton, Minoti Bhakta, Jialei Duan, Yang Xie, Guanghua Xiao, Bret M. Evers, Gary C. Hon, Ralf Kittler, Nikhil V. Munshi
Summary: A comprehensive CCS-enriched CRE database named CCS-ATAC was established for studying CCS-wide and component-specific regulatory functions. CCS component-specific gene regulatory networks (GRNs) were constructed using transcription factor (TF) motifs, and specific TF sub-networks were identified and confirmed. CCS-ATAC was leveraged to improve annotation of existing human variants related to cardiac rhythm, and a potential dysregulated enhancer-target pair by a specific SNP was nominated.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Public, Environmental & Occupational Health
Marie Tindborg, Anders Koch, Mikael Andersson, Klaus Juul, Uka Wilhjelm Geisler, Bolette Soborg, Sascha Wilk Michelsen
Summary: The incidence rates of heart disease (HD) and congenital heart disease (CHD) were compared between young Inuit populations in Greenland and Denmark. It was found that the incidence rate of HD was lower in Greenland compared to Denmark, while the incidence rates of CHD were similar in both countries. Individuals of Inuit/mixed ethnicity had a higher risk of both HD and CHD compared to non-Inuit individuals in both countries.
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Ronen Ben Jehuda, Binyamin Eisen, Yuval Shemer, Lucy N. Mekies, Agnes Szantai, Irina Reiter, Huanhuan Cui, Kaomei Guan, Shiraz Haron-Khun, Dov Freimark, Silke R. Sperling, Mihaela Gherghiceanu, Michael Arad, Ofer Binah
Article
Medicine, Research & Experimental
Andrea Grund, Malgorzata Szaroszyk, Mortimer Korf-Klingebiel, Mona Malek Mohammadi, Felix A. Trogisch, Ulrike Schrameck, Anna Gigina, Christopher Tiedje, Matthias Gaestel, Theresia Kraft, Jan Hegermann, Sandor Batkai, Thomas Thum, Andreas Perrot, Cris dos Remedios, Eva Riechert, Mirko Voelkers, Shirin Doroudgar, Andreas Jungmann, Ralf Bauer, Xiaoke Yin, Manuel Mayr, Kai C. Wollert, Andreas Pich, Hua Xiao, Hugo A. Katus, Johann Bauersachs, Oliver J. Mueller, Joerg Heineke
EMBO MOLECULAR MEDICINE
(2019)
Article
Biochemistry & Molecular Biology
Analyne M. Schroeder, Massoud Allahyari, Georg Vogler, Maria A. Missinato, Tanja Nielsen, Michael S. Yu, Jeanne L. Theis, Lars A. Larsen, Preeya Goyal, Jill A. Rosenfeld, Timothy J. Nelson, Timothy M. Olson, Alexandre R. Colas, Paul Grossfeld, Rolf Bodmer
HUMAN MOLECULAR GENETICS
(2019)
Article
Multidisciplinary Sciences
Marcel Grunert, Sandra Appelt, Ilona Dunkel, Felix Berger, Silke R. Sperling
SCIENTIFIC REPORTS
(2019)
Article
Biology
Emilie Auxerre-Plantie, Masayuki Nakamori, Yoan Renaud, Aline Huguet, Caroline Choquet, Cristiana Dondi, Lucile Miquerol, Masanori P. Takahashi, Genevieve Gourdon, Guillaume Junion, Teresa Jagla, Monika Zmojdzian, Krzysztof Jagla
Article
Multidisciplinary Sciences
Marcel Grunert, Sandra Appelt, Sophia Schoenhals, Kerstin Mika, Huanhuan Cui, Ashley Cooper, Lukas Cyganek, Kaomei Guan, Silke R. Sperling
SCIENTIFIC REPORTS
(2020)
Article
Cardiac & Cardiovascular Systems
Alexandra Toste, Andreas Perrot, Cemil Oezcelik, Nuno Cardim
REVISTA PORTUGUESA DE CARDIOLOGIA
(2020)
Article
Cardiac & Cardiovascular Systems
Marcel Grunert, Sandra Appelt, Paul Grossfeld, Silke R. Sperling
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2020)