Article
Cardiac & Cardiovascular Systems
Mohammed Majid Akhtar, Massimiliano Lorenzini, Menelaos Pavlou, Juan Pablo Ochoa, Constantinos O'Mahony, Maria Alejandra Restrepo-Cordoba, Diego Segura-Rodriguez, Francisco Bermudez-Jimenez, Pilar Molina, Sofia Cuenca, Flavie Ader, Jose M. Larranaga-Moreira, Maria Sabater-Molina, Maria Garcia-Alvarez, Larraitz Gaztanaga Arantzamendi, Grazyna Truszkowska, Martin Ortiz-Genga, Itziar Solla Ruiz, Soren Kristian Nielsen, Torsten Bloch Rasmussen, Ainhoa Robles Mezcua, Jorge Alvarez-Rubio, Hans Eiskjaer, Mathias Gautel, Jose M. Garcia-Pinilla, Tomas Ripoll-Vera, Jens Mogensen, Javier Limeres Freire, Jose F. Rodriguez-Palomares, Maria Luisa Pena-Pena, Diego Rangel-Sousa, Julian Palomino-Doza, Xabier Arana Achaga, Zofia Bilinska, Estibaliz Zamarreno Golvano, Vincent Climent, Marina Navarro Penalver, Roberto Barriales-Villa, Philippe Charron, Raquel Yotti, Esther Zorio, Juan Jimenez-Jaimez, Pablo Garcia-Pavia, Perry M. Elliott
Summary: Patients with FLNC truncating variants are at higher risk of adverse events, especially among those with mild to moderate left ventricular systolic dysfunction, suggesting the consideration of higher LVEF values for prophylactic implantable cardioverter-defibrillator therapy.
Article
Medicine, General & Internal
Roslind K. Hackenberg, Fabio Schmitt-Sanchez, Christoph Endler, Verena Tischler, Jayagopi Surendar, Kristian Welle, Koroush Kabir, Frank A. Schildberg
Summary: This study aimed to analyze the value of commonly used diagnostic tools and establish an OM score for treatment recommendations. Through blood sampling, histopathology, and magnetic resonance imaging, an OM score was developed that accurately diagnosed 93.3% of patients with confirmed OM. This study was the first to analyze the value of commonly used tools for diagnosing OM.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Physiology
Maya Noureddine, Katja Gehmlich
Summary: The Z-disk is a protein-rich structure in muscle cells that plays a crucial role in maintaining the mechanical stability of the cardiac muscle. Many proteins interact with each other at the Z-disk to regulate the mechanical properties of muscle fibers. The impact of genetic variants in Z-disk proteins on inherited cardiac conditions has not been fully understood.
FRONTIERS IN PHYSIOLOGY
(2023)
Article
Neurosciences
Somayeh Meysami, Cyrus A. Raji, Mario F. Mendez
Summary: Volumetric quantification of brain MR imaging can help differentiate between behavioral variant frontotemporal dementia (bvFTD) and early-onset Alzheimer's disease (EOAD). bvFTD patients had lower volume in frontal lobes, thalamus, and putamen, while EOAD patients had lower volume in the parietal lobe. The use of Neuroreader percentiles resulted in 99.3% accuracy, while the use of subfields resulted in 80.2% accuracy. The parietal lobe volume was the most predictive factor.
JOURNAL OF ALZHEIMERS DISEASE
(2022)
Article
Neurosciences
Annieck M. M. Diks, Cristina Teodosio, Bas de Mooij, Rick J. J. Groenland, Brigitta A. E. Naber, Inge F. F. de Laat, Sandra A. A. Vloemans, Susan Rohde, Marien I. I. de Jonge, Linda Lorenz, Debbie Horsten, Jacques J. M. van Dongen, Magdalena A. A. Berkowska, Henne Holstege
Summary: The rs72824905 SNP in the PLCG2 gene is associated with protection against several dementia subtypes and increased likelihood of longevity. In human circulating peripheral immune cells, this variant has a slight impact on immune system function across multiple cell types. Carriers of the variant show increased sensitivity in B cells and myeloid cells, and elevated ROS production in myeloid cells.
MOLECULAR NEURODEGENERATION
(2023)
Article
Cardiac & Cardiovascular Systems
Rudy Celeghin, Alberto Cipriani, Riccardo Bariani, Maria Bueno Marinas, Marco Cason, Michela Bevilacqua, Monica De Gaspari, Stefania Rizzo, Ilaria Rigato, Stefano Da Pozzo, Alessandro Zorzi, Martina Perazzolo Marra, Gaetano Thiene, Sabino Iliceto, Cristina Basso, Domenico Corrado, Kalliopi Pilichou, Barbara Bauce
Summary: This study investigated the prevalence of FLNC variants in a gene-negative ACM population and evaluated the clinical phenotype and SCD risk factors in FLNC-associated cardiomyopathies. The results showed that FLNC mutations were associated with ACM, and the presence of LV LGE/fibrosis was related to SCD.
Article
Cardiac & Cardiovascular Systems
Stephan A. C. Schoonvelde, Claudine W. B. Ruijmbeek, Alexander Hirsch, Marjon A. van Slegtenhorst, Marja W. Wessels, Jan H. von der Thusen, Annette F. Baas, Sophie L. V. M. Stroeks, Job A. J. Verdonschot, Paul A. van der Zwaag, Judith M. A. Verhagen, Michelle Michels
Summary: This study evaluated the phenotype of FLNC variant carriers and determined that the FLNC variant c.6864_6867dup, p.(Val2290Argfs*23) is a founder variant originating from the south of the Netherlands. Carriers are susceptible to developing heart failure and ventricular arrhythmias. The cardiac phenotype is characterized by ringlike late gadolinium enhancement, even in individuals without significantly reduced left ventricular function.
Article
Genetics & Heredity
Malena P. P. Pantou, Polyxeni Gourzi, Efstathios Papatheodorou, Vasiliki Vlagkouli, Alexandros Tsoutsinos, Eva Nyktari, Dimitrios Degiannis, Aris Anastasakis
Summary: This case report describes a female patient with arrhythmogenic left ventricular cardiomyopathy and a syncopal episode, who was found to have a novel mutation in the C-terminal region of the DSP gene. The patient did not exhibit the typical skin symptoms associated with Carvajal syndrome. Her parents were identified as heterozygous and had different clinical presentations.
BMC MEDICAL GENOMICS
(2023)
Review
Clinical Neurology
Stefania Della Vecchia, Diego Lopergolo, Rosanna Trovato, Rosa Pasquariello, Anna Rita Ferrari, Emanuele Bartolini
Summary: This study aims to expand knowledge of epilepsy associated with Cabezas syndrome, finding that CUL4B-associated epilepsy may be drug-resistant and not influenced by mutation types or neuroimaging features.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2023)
Article
Genetics & Heredity
Nathalie Gaudreault, Louis-Jacques Ruel, Cyndi Henry, Jennifer Schleit, Patrick Laguee, Jean Champagne, Mario Senechal, Jean-Francois Sarrazin, Francois Philippon, Yohan Bosse, Christian Steinberg
Summary: Variants of FLNC have been identified as a rare genetic substrate for HCM. The FLNC-Ile1937Asn variant is a novel pathogenic mutation resulting in a severe form of HCM with full disease penetrance. It is associated with a high proportion of end-stage heart failure, heart transplantation, and disease-related mortality.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Oncology
Erin Mundt, Brent Mabey, Irene Rainville, Charite Ricker, Nanda Singh, Anna Gardiner, Susan Manley, Thomas Slavin Jr
Summary: Truncating and missense PVs in CHEK2 show similar risks for breast cancer and do not seem to elevate risk for colorectal cancer in a large cohort study.
Article
Oncology
Xiaojun Ding, Zhiping Huang, Xiaoyu Liu, Lin Lin, Min Liu, Jie Yang, Huan Lu
Summary: Combining three-dimensional volume contrast imaging C (VCI-C) with magnetic resonance imaging (MRI) can effectively diagnose fetal posterior cranial cavity disease by observing the morphology of the fetal cerebellar vermis and reflecting the developmental abnormalities of the vermis and lesions of the posterior cranial fossa.
AMERICAN JOURNAL OF TRANSLATIONAL RESEARCH
(2022)
Article
Clinical Neurology
Mahadi Salah, Sebastien Janssens de Varebeke, Erik Fransen, Vedat Topsakal, Guy Van Camp, Vincent Van Rompaey
Summary: This study evaluated a machine-learning algorithm in predicting DFNA9 with high sensitivity in both cross-sectional and longitudinal analyses, showing promise for assisting clinicians in genetic testing for progressive hearing loss in carriers of the p.(Pro51Ser) variant, especially in younger and older age groups.
OTOLOGY & NEUROTOLOGY
(2021)
Article
Developmental Biology
Arman Zhao, Dandan Shu, Daxue Zhang, Bin Yang, Liyi Hong, Andi Wang, Ruen Yao, Jian Wang, Haitao Lv, Jian Wang, Yiping Shen, Hongying Wang, Qin Gu
Summary: MCTT syndrome is a newly recognized neurodevelopmental disorder caused by heterozygous gain-of-function C-terminal truncating mutations in the MN1 gene. This syndrome is characterized by global developmental delay, facial dysmorphism, and hearing impairment. Studies have shown that different locations of MN1 truncating variants lead to distinct clinical subtypes.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
(2022)
Review
Clinical Neurology
Deblina Biswas, Rebecca Banerjee, Swagata Sarkar, Supriyo Choudhury, Pritimoy Sanyal, Mona Tiwari, Hrishikesh Kumar
Summary: Parkinson's disease (PD) lacks a definitive diagnosis, but nigrosome-1 imaging and midbrain neuromelanin-sensitive MRI show potential for authenticating the clinical diagnosis of PD and distinguishing it from other parkinsonian disorders.
ANNALS OF INDIAN ACADEMY OF NEUROLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Matthew Amoni, Dylan Vermoortele, Samaneh Ekhteraei-Tousi, Rosa Donate Puertas, Guillaume Gilbert, Mohamad Youness, Bernard Thienpont, Rik Willems, H. Llewelyn Roderick, Piet Claus, Karin R. Sipido
Summary: After myocardial infarction, the infarct border zone (BZ) exhibits heterogeneous repolarization abnormalities, which are related to cardiomyocyte remodeling. In vivo and cellular studies show that the BZ has longer activation-recovery intervals and increased heterogeneity, which is associated with arrhythmia vulnerability. Differentially expressed genes in BZ cardiomyocytes, including hypertrophy-related and ion channel-related genes, exhibit high cell-cell variability of expression.
CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Ruben De Bosscher, Christophe Dausin, Piet Claus, Jan Bogaert, Steven Dymarkowski, Kaatje Goetschalckx, Olivier Ghekiere, Caroline M. van de Heyning, Paul Van Herck, Bernard Paelinck, Haroun El Addouli, Andre La Gerche, Lieven Herbots, Rik Willems, Hein Heidbuchel, Guido Claessen, Mathias Claeys, Peter Hespel, Tom Dresselaers, Hielko Miljoen, Ann Belmans, Kasper Favere, Dorien Vermeulen, Isabel Witvrouwen, Dominique Hansen, Bert Op't Eijnde, Daisy Thijs, Peter Vanvoorden, Sofie Van Soest
Summary: The impact of long-term endurance sport participation on coronary atherosclerosis and acute cardiac events remains controversial. A study found that lifelong endurance athletes had a higher prevalence of coronary plaques compared to healthy individuals. Further research is needed to understand the risk of cardiovascular events in high-intensity endurance exercise.
EUROPEAN HEART JOURNAL
(2023)
Article
Cardiac & Cardiovascular Systems
Auke T. T. Bergeman, Tomas Robyns, Ahmad S. S. Amin, Arthur A. M. Wilde, Christian van der Werf
Summary: This study describes 3 survivors of sudden cardiac arrest who were not given exercise stress testing during the initial hospital admission. They were initially misdiagnosed with long QT syndrome, but a delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT) was made during follow-up. This resulted in inappropriate management and a failure to screen family members for CPVT.
NETHERLANDS HEART JOURNAL
(2023)
Article
Cardiac & Cardiovascular Systems
Domenico Filomena, Bert Vandenberk, Tom Dresselaers, Rik Willems, Johan Van Cleemput, Iacopo Olivotto, Tomas Robyns, Jan Bogaert
Summary: This study aimed to evaluate the presence and frequency of papillary muscle (PM) displacement in different phenotypes of hypertrophic cardiomyopathy (HCM). The study found that PM displacement was most common in the apical HCM group, followed by the mixed HCM and septal HCM groups. There appears to be a potential pathogenetic and mechanical link between apical PM displacement and apical HCM.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2023)
Article
Genetics & Heredity
Jente Verbesselt, Cynthia B. Solot, Ellen van den Heuvel, T. Blaine Crowley, Victoria Giunta, Jeroen Breckpot, Donna M. McDonald-McGinn, Inge Zink, Ann Swillen
Summary: By comparing the language abilities of individuals with 22q11.2Dup syndrome (a chromosomal duplication) and 22q11.2DS syndrome (a chromosomal deletion), this study found that children with 22q11.2Dup have significantly more language problems than those with 22q11.2DS. Both syndromes were associated with impairments in language comprehension, expression, lexico-semantic, and morphosyntactic domains. Therefore, early identification, therapeutic intervention, and follow-up are recommended to support language development and minimize the long-term impact of language and communicative deficits in children with 22q11.2Dup.
Article
Immunology
Frederik Staels, Willem Roosens, Simone Giovannozzi, Leen Moens, Jan Bogaert, Cecilia Iglesias-Herrero, Rik Gijsbers, Xavier Bossuyt, Glynis Frans, Adrian Liston, Stephanie Humblet-Baron, Isabelle Meyts, Lucas Van Aelst, Rik Schrijvers
Summary: Autosomal dominant Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations cause an inborn error of immunity with chronic mucocutaneous candidiasis, recurrent infections, and autoimmune manifestations. Treatment includes antifungal therapy, antibiotics, and immunosuppressive therapy. A case of STAT1 GOF patient with elevated cardiac troponins leading to a diagnosis of idiopathic myocarditis is described. Treatment with a JAK-inhibitor mitigated inflammation but failed to alter fibrosis, leading to fatal arrhythmia.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Tomas Robyns, Dieter Nuyens, Bert Vandenberk, Peter Haemers, Jeroen Breckpot, Christophe Garweg, Joris Ector, Rik Willems
Summary: This study aimed to confirm the diagnostic value of individualized QT interval (QTi) in Long QT syndrome (LQTS), fine-tune its cut-off value and evaluate intra-individual variability. The results showed that using gender-dependent cut-off values, QTi has a high diagnostic accuracy in LQTS families.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Physiology
Olivier Ghekiere, Lieven Herbots, Benjamin Peters, Baptiste Vande Berg, Tom Dresselaers, Wouter Franssen, Bernard Padovani, Dorothee Ducreux, Emile Ferrari, Alain Nchimi, Sophie Demanez, Ruben De Bosscher, Rik Willems, Hein Heidbuchel, Andre La Gerche, Guido Claessen, Jan Bogaert, Bert O. Eijnde
Summary: This study evaluated the cardiac changes in recreational cyclists following strenuous exercise, and found that it led to an increase in cardiac troponin I, an increase in T1 relaxation time, and right ventricular dysfunction. These findings are interrelated, but the long-term implications require further investigation.
EUROPEAN JOURNAL OF APPLIED PHYSIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Emily A. Huth, Xiaonan Zhao, Nichole Owen, Pamela N. Luna, Ida Vogel, Inger L. H. Dorf, Shelagh Joss, Jill Clayton-Smith, Michael J. Parker, Jacoba J. Louw, Marc Gewillig, Jeroen Breckpot, Alison Kraus, Erina Sasaki, Usha Kini, Trent Burgess, Tiong Y. Tan, Ruth Armstrong, Katherine Neas, Giovanni B. Ferrero, Alfredo Brusco, Wihelmina S. Kerstjens-Frederikse, Julia Rankin, Lindsey R. Helvaty, Benjamin J. Landis, Gabrielle C. Geddes, Kim L. McBride, Stephanie M. Ware, Chad A. Shaw, Seema R. Lalani, Jill A. Rosenfeld, Daryl A. Scott
Summary: Clinical exome sequencing (ES) was found to have a diagnostic efficacy rate of 16.3% in individuals with non-isolated anomalous pulmonary venous return (APVR). Three novel genes (EFTUD2, NAA15, and NKX2-1) and three recurrent copy number variants (1q21.1 microdeletions, 15q11.2 deletions, and 22q11.2 deletions) were identified as being associated with APVR. Genetic testing through ES and chromosomal microarray analysis (or genome sequencing) should be considered for individuals with non-isolated APVR without an identified genetic cause, but not for individuals with EFTUD2-, NAA15-, and NKX2-1-related disorders.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Cardiac & Cardiovascular Systems
Katerina Hnatkova, Irena Andrsova, Tomas Novotny, Bert Vanderberk, David Sprenkeler, Juhani Junttila, Tobias Reichlin, Simon Schloegl, Marc A. Vos, Tim Friede, Axel Bauer, Heikki Huikuri, Rik Willems, Georg Schmidt, Christian Sticherling, Markus Zabel, Marek Malik
Summary: This study aimed to evaluate the predictive value of non-planarity of ECG vector loops in primary prophylactic ICD recipients. The results showed that non-planarity of QRS was associated with increased risk of death despite ICD protection, while non-planarity of T waves was associated with increased risk of appropriate ICD shocks.
Article
Genetics & Heredity
Yingjie Zhao, Yujue Wang, Lijie Shi, Donna M. McDonald-McGinn, T. Blaine Crowley, Daniel E. McGinn, Oanh T. Tran, Daniella Miller, Jhih-Rong Lin, Elaine Zackai, H. Richard Johnston, Eva W. C. Chow, Jacob A. S. Vorstman, Claudia Vingerhoets, Therese van Amelsvoort, Doron Gothelf, Ann Swillen, Jeroen Breckpot, Joris R. Vermeesch, Stephan Eliez, Maude Schneider, Marianne B. M. van den Bree, Michael J. Owen, Wendy R. Kates, Gabriela M. Repetto, Vandana Shashi, Kelly Schoch, Carrie E. Bearden, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Bruno Marino, Maria Pontillo, Marco Armando, Stefano Vicari, Kathleen Angkustsiri, Linda Campbell, Tiffany Busa, Damian Heine-Suner, Kieran C. Murphy, Declan Murphy, Sixto Garcia-Minaur, Luis Fernandez, Zhengdong D. Zhang, Elizabeth Goldmuntz, Raquel E. Gur, Beverly S. Emanuel, Deyou Zheng, Christian R. Marshall, Anne S. Bassett, Tao Wang, Bernice E. Morrow
Summary: Congenital heart disease (CHD) in patients with 22q11.2 deletion syndrome (22q11.2DS) may be influenced by genetic modifiers in the TBX1 gene network. Chromatin regulatory genes including EP400, KAT6A, KMT2C, KMT2D, NSD1, CHD7, and PHF21A are identified as potential modifiers. These findings suggest shared mechanisms involving the TBX1 gene network in the etiology of CHD.
NPJ GENOMIC MEDICINE
(2023)
Meeting Abstract
Peripheral Vascular Disease
Ryan Trouve, Dongmei Wei, Thomas Vanassche, Lucas Van Aelst, Peter Verhamme, Stafen Janssens, Zhen-Yu Zhang
JOURNAL OF HYPERTENSION
(2023)
