Review
Biochemistry & Molecular Biology
Aleksandra Szczawinska-Poplonyk, Eyal Schwartzmann, Zuzanna Chmara, Antonina Glukowska, Tomasz Krysa, Maksymilian Majchrzycki, Maurycy Olejnicki, Paulina Ostrowska, Joanna Babik
Summary: The 22q11.2 deletion syndrome is a multisystemic disorder with a wide range of clinical manifestations. The syndrome is caused by chromosomal rearrangements in meiosis and is mediated by non-allelic homologous recombination events. Various genetic and environmental factors contribute to the genotype-phenotype relationships. This comprehensive review highlights the molecular genetic background of 22q11.2 deletion syndrome in correlation with a clinical multidisciplinary approach.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cardiac & Cardiovascular Systems
Karrie F. Downing, Matthew E. Oster, Scott E. Klewer, Charles E. Rose, Wendy N. Nembhard, Jennifer G. Andrews, Sherry L. Farr
Summary: This study evaluated the prevalence of disabilities and associated characteristics among adults with CHD, revealing that 40% of participants reported having disabilities, with cognition impairments being the most common. The prevalence of disability types among individuals with CHD was 5 to 8 times higher compared to the general population, and disabilities were found to be associated with impaired HRQOL.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Review
Medicine, General & Internal
Dianna M. Milewicz, Alan C. Braverman, Julie De Backer, Shaine A. Morris, Catherine Boileau, Irene H. Maumenee, Guillaume Jondeau, Arturo Evangelista, Reed E. Pyeritz
Summary: Marfan syndrome is a genetic disorder characterized by cardiovascular, skeletal, and ocular manifestations, caused by mutations in the FBN1 gene encoding fibrillin-1, a major structural component of the extracellular matrix. Early diagnosis and management are crucial to prevent life-threatening complications such as aortic dissections.
NATURE REVIEWS DISEASE PRIMERS
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Alexander Lenz, Malte Warncke, Felicia Wright, Julius Matthias Weinrich, Bjoern P. Schoennagel, Frank Oliver Henes, Gerhard Adam, Yskert von Kodolitsch, Gerhard Schoen, Peter Bannas
Summary: This study aimed to compare the growth rates of the distal aorta in Marfan patients with and without aortic root replacement. The study found that Marfan patients who underwent aortic root replacement had a higher growth rate in the distal thoracic aorta compared to those without replacement.
EUROPEAN RADIOLOGY
(2023)
Article
Health Care Sciences & Services
Hope E. Baylow, Mitra Esfandiarei, Ileana Ratiu
Summary: This study investigated the perceptions of swallowing difficulties and quality of life (QoL) among individuals with Marfan syndrome (MFS). The findings suggest that swallowing difficulties can impact QoL satisfaction and overall QoL, but not QoL importance.
QUALITY OF LIFE RESEARCH
(2022)
Article
Rehabilitation
Jung Hwa Do, Ma. Nessa Gelvosa, Kyung Yong Choi, Hwal Kim, Ja Young Kim, Nicole L. Stout, Young Ki Cho, Hyeong Ryul Kim, Yong-Hee Kim, Sang Ah Kim, Jae Yong Jeon
Summary: Multimodal rehabilitation initiated immediately after esophageal cancer surgery can improve physical recovery, particularly in terms of walking endurance.
ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION
(2022)
Article
Medicine, General & Internal
Fatimah A. Alhaddad, Naif A. Alkhushi, Amal M. Alharbi, Sarah A. Al Talib, Sarah M. Sultan, Yara O. Bahawi
Summary: A study of 97 children with Down syndrome found that congenital heart disease negatively impacted motor skills in younger children but had no effect on other aspects of quality of life. However, this difference improved with time and was not present in older children.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Article
Genetics & Heredity
Wei-Zhen Zhou, Wenke Li, Huayan Shen, Ruby W. Wang, Wen Chen, Yujing Zhang, Qingyi Zeng, Hao Wang, Meng Yuan, Ziyi Zeng, Jinhui Cui, Chuan-Yun Li, Fred Y. Ye, Zhou Zhou
Summary: This study developed an evidence-based knowledgebase of congenital heart disease (CHD) that provides comprehensive information on CHD-related genes and clinical manifestations. Through the integration of data from 1114 publications, it links 1124 susceptibility genes and 3591 variations to over 300 CHD types and related syndromes. The knowledgebase also includes functional annotations from 50 databases/tools to facilitate the interpretation of gene and variation effects on disease pathogenicity. A core CHD sub-network of 163 genes was extracted using a gene interaction network approach. Overall, CHDbase is a valuable resource for studying CHD susceptibilities.
GENOMICS PROTEOMICS & BIOINFORMATICS
(2023)
Article
Emergency Medicine
Ellen Duncan, Adam Small, Roxana Sulica, Dan Halpern
Summary: Ventricular septal defect (VSD) is the most common congenital heart lesion among children and is usually diagnosed and corrected in childhood. However, in this case report, a young man with an undiagnosed VSD developed Eisenmenger syndrome and presented with diplopia caused by cerebral infarcts.
AMERICAN JOURNAL OF EMERGENCY MEDICINE
(2023)
Article
Multidisciplinary Sciences
Ketu Mishra-Gorur, Tanyeri Barak, Leon D. Kaulen, Octavian Henegariu, Sheng Chih Jin, Stephanie Marie Aguilera, Ezgi Yalbir, Gizem Goles, Sayoko Nishimura, Danielle Miyagishima, Lydia Djenoune, Selin Altinok, Devendra K. Rai, Stephen Viviano, Andrew Prendergast, Cynthia Zerillo, Kent Ozcan, Burcin Baran, Leman Sencar, Nukte Goc, Yanki Yarman, A. Gulhan Ercan-Sencicek, Kaya Bilguvar, Richard P. Lifton, Jennifer Moliterno, Angeliki Louvi, Shiaulou Yuan, Engin Deniz, Martina Brueckner, Murat Gunel
Summary: In this study, somatic variants of the TRAF7 gene were found to be responsible for anterior skull-base meningiomas, while inherited mutations of TRAF7 were identified to cause congenital heart defects. The dominant effect of TRAF7 mutants was demonstrated, as they inhibited protein function by heterodimerizing with wild-type protein. The common genetic origin of the two different pathologies was traced back to the TRAF7-expressing neural crest, which gives rise to forebrain meninges and the cardiac outflow tract. Somatic and inherited mutations disrupted TRAF7-IFT57 interactions, leading to cilia degradation. The lack of cilia in TRAF7-mutant meningioma primary cultures and the development of cardiac, craniofacial, and ciliary defects in Xenopus and zebrafish upon TRAF7 knockdown suggest a mechanistic convergence between TRAF7-driven meningiomas and developmental heart defects.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Cardiac & Cardiovascular Systems
Reaksmei Ly, Clement Karsenty, Pascal Amedro, Sarah Cohen, Olivia Domanski, Francois Godart, Jelena Radojevic, Guy Vaksmann, Nicole Naccache, Anissa Boubrit, Vincent Bataille, Sebastien Hascoet, Magalie Ladouceur
Summary: This study aimed to determine the predictive value of quality of life (QoL) on outcomes in adults with congenital heart disease (ACHD) and heart failure (HF). The study results showed that patients with poor QoL experience severe events more frequently, thus highlighting the importance of evaluating QoL and implementing rehabilitation programs to alter their trajectory.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Review
Medicine, General & Internal
Katarzyna Zych-Krekora, Oskar Sylwestrzak, Mariusz Grzesiak, Michal Krekora
Summary: Congenital heart defects are common and have a significant impact on morbidity and mortality in newborns. Providing comprehensive care, including cardiac check-ups, drug treatment, surgical interventions, rehabilitation, psychological support, and education, is crucial for children with CHD and their families.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Genetics & Heredity
Lucia Micale, Silvia Morlino, Annalucia Carbone, Annamaria Carissimo, Grazia Nardella, Carmela Fusco, Orazio Palumbo, Annalisa Schirizzi, Federica Russo, Gianluigi Mazzoccoli, Jeroen Breckpot, Chiara De Luca, Alessandro Ferraris, Cecilia Giunta, Paola Grammatico, Maria K. Haanpaa, Giorgia Mancano, Giulia Forzano, Davide Cacchiarelli, Hilde Van Esch, Bert Callewaert, Marianne Rohrbach, Marco Castori
Summary: This study describes a multisystem disorder caused by heterozygous loss-of-function variants in the TAB2 gene, involving cardiovascular, facial, musculoskeletal, and cutaneous anomalies.
GENETICS IN MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Marie Maagaard, Filip Eckerstroem, Anne-Sif Lund Schram, Heidi Amalie Rosendahl Jensen, Vibeke Hjortdal
Summary: Older adults with a congenital ventricular septal defect (VSD) exhibit reduced heart rate variability and exercise capacity. It is unknown whether these findings affect health-related quality of life.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Cardiac & Cardiovascular Systems
Valtteri Muroke, Mikko Jalanko, Jari Haukka, Juha Sinisalo
Summary: This study aimed to evaluate the long-term mortality and cause-specific mortality of patients with atrial septal defect (ASD) in a nationwide cohort. The results showed that patients with ASD had higher overall mortality, with increased cause-specific mortality in congenital malformations, stroke, and heart diseases.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)