Article
Cardiac & Cardiovascular Systems
Valeria E. Duarte, Michael N. Singh
Summary: Congenital heart defects are a common type of birth defect, with an unknown underlying cause. Advances in genetics and genomics have increased our understanding of the pathogenesis of these defects. Timely diagnosis is crucial for risk assessment, surveillance, and counseling.
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)
Article
Ophthalmology
Alejandra Daruich, Matthieu P. Robert, Camille Leroy, Nathalie de Vergnes, Caroline Beugnet, Valerie Malan, Sophie Valleix, Dominique Bremond-Gignac
Summary: This study aimed to investigate the correlation between the degree of foveal hypoplasia in congenital aniridia and visual acuity, iris phenotype, and PAX6 mutations. Through analysis of imaging and genetic data, it was found that PAX6 gene mutations were associated with severe foveal hypoplasia, while deletions restricted to the 3rd regulatory region of PAX6 may result in better visual prognosis. The degree of foveal hypoplasia was found to be correlated with the severity of iris defects.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2022)
Review
Clinical Neurology
Inigo Ruiz-Barrio, Andrea Horta-Barba, Ignacio Illan-Gala, Jaime Kulisevsky, Javier Pagonabarraga
Summary: This review describes important features and clues of PSP syndrome of monogenic origin, as well as a diagnostic algorithm that may be helpful in genetic diagnosis.
FRONTIERS IN NEUROLOGY
(2022)
Review
Urology & Nephrology
Ryota Suzuki, Nana Sakakibara, Yuta Ichikawa, Hideaki Kitakado, Chika Ueda, Yu Tanaka, Eri Okada, Atsushi Kondo, Shinya Ishiko, Shingo Ishimori, China Nagano, Tomohiko Yamamura, Tomoko Horinouchi, Takayuki Okamoto, Kandai Nozu
Summary: This study systematically reviewed LAMB2-associated diseases, characteristics of LAMB2 nephropathy, and genotype-phenotype correlations, revealing a diversity of disease phenotypes and their associations with different gene variants.
KIDNEY INTERNATIONAL REPORTS
(2023)
Review
Genetics & Heredity
Giulio Calcagni, Flaminia Pugnaloni, Maria Cristina Digilio, Marta Unolt, Carolina Putotto, Marcello Niceta, Anwar Baban, Francesca Piceci Sparascio, Fabrizio Drago, Alessandro De Luca, Marco Tartaglia, Bruno Marino, Paolo Versacci
Summary: Recent research has revealed new insights into the connection between genetic diseases and cardiac defects, emphasizing the importance of understanding the relationships between genetic causes, pathogenetic mechanisms, and cardiac phenotypes. Efforts are ongoing to identify specific genotype-phenotype correlations, with the hope that this will lead to improved diagnosis and patient management.
Article
Genetics & Heredity
Xin Wang, Yanyun Wang, Dingyuan Ma, Zhilei Zhang, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang
Summary: The study summarized the clinical and genotype characteristics of 21-OHD patients detected by neonatal screening in Nanjing, Jiangsu province of China from 2000 to 2019. Among 1,211,322 screened newborns, 62 cases were diagnosed with 21-OHD, with an incidence of 1:19858. The most frequent variant found in the CYP21A2 gene was c.293-13A/C>G (36.29%).
FRONTIERS IN GENETICS
(2021)
Article
Cardiac & Cardiovascular Systems
Jonas W. Bartstra, Sara Risseeuw, Pim A. de Jong, Bram van Os, Lianne Kalsbeek, Chris Mol, Annette F. Baas, Shana Verschuere, Olivier Vanakker, Ralph J. Florijn, Jeroen Hendrikse, Willem Mali, Saskia Imhof, Jeannette Ossewaarde-van Norel, Redmer van Leeuwen, Wilko Spiering
Summary: The study revealed that PXE patients with a mixed genotype showed less severe arterial and ophthalmological phenotypes compared to patients with two truncating variants in the ABCC6 gene. Further research into environmental and genetic modifiers may help explain the unexplained phenotypic variability.
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
Hematology
Dominique P. M. S. M. Maas, Ferdows Atiq, Nicole M. A. Blijlevens, Paul P. T. Brons, Sandy Krouwel, Britta A. P. Laros-van Gorkom, Frank W. G. Leebeek, Laurens Nieuwenhuizen, Selene C. M. Schoormans, Annet Simons, Danielle Meijer, Waander L. van Heerde, Saskia E. M. Schols
Summary: This study reveals the clinical and laboratory characteristics of genetically confirmed VWD type 2M patients, showing that they have a relatively mild clinical phenotype, except for bleeding after surgery and delivery. Laboratory phenotype varies and depends on the underlying genetic variant. The addition of genotyping to the current phenotypic characterization may improve diagnosis and classification of VWD.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2022)
Article
Clinical Neurology
Tyler Rehbein, Tong Tong Wu, Simona Treidler, Davide Pareyson, Richard Lewis, Sabrina W. Yum, Brett A. McCray, Sindhu Ramchandren, Joshua Burns, Jun Li, Richard S. Finkel, Steven S. Scherer, Stephan Zuchner, Michael E. Shy, Mary M. Reilly, David N. Herrmann
Summary: Recessive SH3TC2 variants cause CMT4C, a disease with variable clinical characteristics. Longitudinal analysis of 56 patients showed that CMTES and CMTES-R scores were moderately responsive to change over 3 years, indicating their usefulness in assessing disease progression.
Review
Hematology
Radha Ramanan, James D. McFadyen, Andrew C. Perkins, Huyen A. Tran
Summary: Congenital fibrinogen disorders (CFDs) are a group of heterogeneous diseases with diverse clinical manifestations and molecular lesions. The correlation between phenotype and genotype is still poorly understood. This review explores the current understanding of the genetic landscape of CFDs and discusses the potential influence of oligogenic inheritance on phenotypic heterogeneity, as well as the benefits and challenges of sequencing technology in uncovering new findings. Further research is needed to achieve precise diagnosis, prognosis, and targeted management for this complex group of patients.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Gastroenterology & Hepatology
Li Wang, Yi-Ling Qiu, Hong-Mei Xu, Jing Zhu, Shuang-Jie Li, Wen-Xian OuYang, Yong-Feng Yang, Yi Lu, Xin-Bao Xie, Qing-He Xing, Jian-She Wang
Summary: The phenotype of MYO5B deficiency is associated with MYO5B genotypes, particularly null variants or affected domains. The severity of intestinal manifestation and cholestasis in FIC patients is correlated with specific variants of the MYO5B gene. Missense/in-frame variants affecting non-motor regions and IQ motifs in MYO5B are more common in FIC patients compared to MVID patients.
LIVER INTERNATIONAL
(2022)
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)
Review
Health Care Sciences & Services
Olga Maria Diz, Rocio Toro, Sergi Cesar, Olga Gomez, Georgia Sarquella-Brugada, Oscar Campuzano
Summary: Congenital heart disease is a group of pathologies characterized by structural malformations of the heart or great vessels, with genetic variants playing a key role. High-throughput genetic technologies can help identify pathogenic factors. Early diagnosis and personalized treatment are crucial due to the high incidence and associated complications.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Editorial Material
Cardiac & Cardiovascular Systems
Daphne T. Hsu
CIRCULATION-HEART FAILURE
(2020)
Article
Cardiac & Cardiovascular Systems
Mario Giordano, Giuseppe Santoro, Gabriella Agnoletti, Mario Carminati, Andrea Donti, Paolo Guccione, Maurizio Marasini, Ornella Milanesi, Maria Giovanna Russo, Biagio Castaldi, Martino Cheli, Roberto Formigari, Gianpiero Gaio, Luca Giugno, Alessia Lunardini, Carlotta Pepino, Isabella Spadoni
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2020)
Letter
Cardiac & Cardiovascular Systems
Giovanni Battista Calabri, Roberto Formigari
PEDIATRIC CARDIOLOGY
(2020)
Article
Cardiac & Cardiovascular Systems
Roberto Formigari, Simona Marcora, Giovanni Battista Luciani, Silvia Favilli, Gabriele Egidy Assenza, Gabriele Rinelli, Giovanni Meliota, Biagio Castaldi, Giuseppe Limongelli, Serena Flocco, Ugo Vairo
Summary: The global response to the COVID-19 pandemic has mainly focused on preventing the disease and protecting high-risk patients. However, there is a lack of knowledge about patients with congenital heart disease, requiring specialized care for those with native, repaired, or palliated heart defects.
JOURNAL OF CARDIOVASCULAR MEDICINE
(2021)
Article
Developmental Biology
Giulio Calcagni, Giulia Gagliostro, Giuseppe Limongelli, Marta Unolt, Enrica De Luca, Maria C. Digilio, Anwar Baban, Sonia B. Albanese, Giovanni B. Ferrero, Giuseppina Baldassarre, Gabriella Agnoletti, Elena Banaudi, Jan Marek, Juan P. Kaski, Giulia Tuo, Maurizio Marasini, Francesca Cairello, Andrea Madrigali, Giuseppe Pacileo, Maria G. Russo, Ornella Milanesi, Roberto Formigari, Maurizio Brighenti, Luca Ragni, Andrea Donti, Fabrizio Drago, Bruno Dallapiccola, Marco Tartaglia, Bruno Marino, Paolo Versacci
BIRTH DEFECTS RESEARCH
(2020)
Article
Cardiac & Cardiovascular Systems
M. Masci, L. Pasquini, T. Alsaied, L. Di Chiara, R. Formigari, L. Galletti, C. M. Campanale, A. Romiti, M. Bonito, P. Bagolan, A. Toscano
Summary: This study analyzed fetal echocardiographic aspects in D-TGAIVS patients and found that they cannot accurately predict which patients will require Urgent balloon atrial septostomy. It is recommended that all D-TGAIVS patients deliver in a tertiary center equipped for Urgent balloon atrial septostomy.
PEDIATRIC CARDIOLOGY
(2021)
Letter
Acoustics
G. Piacentini, G. Mastromoro, A. Bottoni, V. Romano, R. Riccardi, L. Orfeo
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Gianluigi Perri, Matteo Trezzi, Roberto Formigari, Rachele Adorisio, Sergio Filippelli, Gianluca Brancaccio, Lorenzo Galletti, Antonio Amodeo
Summary: The use of Impella 2.5 axial-flow pump via transcarotid implantation technique in two children with acute heart failure may serve as a less invasive support for severe LV failure, potentially serving as a bridge to decision or candidacy for pediatric patients.
WORLD JOURNAL FOR PEDIATRIC AND CONGENITAL HEART SURGERY
(2021)
Article
Cardiac & Cardiovascular Systems
Maria Giulia Gagliardi, Roberto Formigari, Marco Alfonso Perrone, Elettra Pomiato, Francesca Fanisio, Mario Panebianco, Rosaria Barracano, Paolo Guccione, Rosalinda Palmieri, Massimiliano Raponi, Lorenzo Galletti
Summary: This study aimed to investigate the impact of a dedicated ACHD team on the timing and indication of invasive cardiology procedures in adult patients with congenital heart disease. The retrospective single-center study found that both diagnostic and interventional cardiac catheterizations increased under the specialized team, leading to a more tailored treatment approach. Therefore, a dedicated working group could improve the indications for interventional procedures in adult congenital heart disease patients, resulting in better risk stratification and optimized timing for heart transplantation.
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2023)
Article
Cardiac & Cardiovascular Systems
Mara Pilati, Micol Rebonato, Roberto Formigari, Gianfranco Butera
Summary: This article discusses the role of endomyocardial biopsy (EMB) as a diagnostic tool in pediatric heart failure. Due to its invasiveness and risk of complications, its role in the diagnosis of pediatric heart failure has not been well established.
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2022)
Article
Cardiac & Cardiovascular Systems
Biagio Castaldi, Domenico Sirico, Giovanni Meliota, Ugo Vairo, Giovanni Battista Luciani, Mara Pilati, Maria Giovanna Russo, Giuseppe Limongelli, Silvia Favilli, Giuseppe Santoro, Paolo Guccione, Gabriele Rinelli, Gabriella Agnoletti, Mario Carminati, Serena Flocco, Andrea Donti, Gabriele Egidy Assenza, Matteo Ciuffreda, Michele Saitta, Giovanni Di Salvo, Roberto Formigari
Summary: The COVID-19 pandemic has significantly impacted cardiac percutaneous intervention in Pediatric and Adult Congenital Heart Disease patients, leading to a reduction of more than 50% in some medical centers. Discrepancies in the implementation of pandemic control strategies in different regions highlight the need for new, uniform strategies to prepare for future outbreaks.
JOURNAL OF CARDIOVASCULAR MEDICINE
(2021)
Review
Cardiac & Cardiovascular Systems
Gabriele Egidy Assenza, Luca Spinardi, Elisabetta Mariucci, Anna Balducci, Luca Ragni, Cristina Ciuca, Roberto Formigari, Emanuela Angeli, Gianfranco Vornetti, Gaetano Domenico Gargiulo, Andrea Donti
Summary: Transcatheter closure of patent foramen ovale (PFO) and secundum type atrial septal defect (ASD) are common transcatheter procedures targeting different clinical indications. Multimodality imaging plays a crucial role in patient selection, periprocedural monitoring, and follow-up surveillance.
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2021)
Correction
Cardiac & Cardiovascular Systems
R. Formigari, S. Marcora, Battista G. Luciani
JOURNAL OF CARDIOVASCULAR MEDICINE
(2021)
Article
Pediatrics
Riccardo Lubrano, Alberto Villani, Stefano Berrettini, Paolo Caione, Alberto Chiara, Antonella Costantino, Roberto Formigari, Emilio Franzoni, Guido Castelli Gattinara, Arturo Giustardi, Giancarlo La Marca, Paolo Lionetti, Mario Lima, Claudio Maffei, Monica Malamisura, Giantonio Manzoni, Gian Luigi Marseglia, Antonio Memeo, Fabio Mosca, Giovanna Perricone, Licia Peruzzi, Giorgio Piacentini, Gabriella Pozzobon, Enrica Riva, Simonetta Tesoro, Giuseppe Zampino, Federica Zanetto, Marco Zecca, Silvia Bloise
ITALIAN JOURNAL OF PEDIATRICS
(2020)
Article
Multidisciplinary Sciences
Mario Giordano, Giuseppe Santoro, Gabriella Agnoletti, Mario Carminati, Andrea Donti, Paolo Guccione, Maurizio Marasini, Ornella Milanesi, Biagio Castaldi, Martino Cheli, Roberto Formigari, Gianpiero Gaio, Luca Giugno, Alessia Lunardini, Carlotta Pepino, Maria Giovanna Russo, Isabella Spadoni
