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.
Review
Cardiac & Cardiovascular Systems
Konstantinos Dimopoulos, Andrew Constantine, Paul Clift, Robin Condliffe, Shahin Moledina, Katrijn Jansen, Ryo Inuzuka, Gruschen R. Veldtman, Clifford L. Cua, Edgar Lik Wui Tay, Alexander R. Opotowsky, George Giannakoulas, Rafael Alonso-Gonzalez, Rachael Cordina, George Capone, Judith Namuyonga, Charmaine H. Scott, Michele D'Alto, Francisco J. Gamero, Brian Chicoine, Hong Gu, Alisa Limsuwan, Tosin Majekodunmi, Werner Budts, Gerry Coghlan, Craig S. Broberg
Summary: Congenital heart disease is the most common cardiovascular condition in individuals with Down syndrome, affecting up to 50% of patients. Other factors that contribute to cardiovascular outcomes include pulmonary hypertension, pulmonary, endocrine, and metabolic diseases, and risk factors for atherosclerotic disease. Disparities in cardiovascular care for individuals with Down syndrome, which vary across different locations and healthcare systems, are often overlooked. This review provides a comprehensive summary of the diagnosis, prevalence, and management of cardiovascular disease in patients with Down syndrome, as well as addressing disparities in care based on resource availability.
Article
Pediatrics
Fernanda Salgado, Guillermo Larios, Gonzalo Valenzuela, Rodolfo Amstein, Patricio Valle, Paulo Valderrama
Summary: Extubation failure is common in children with Down syndrome after cardiac surgery, and it is associated with younger age, presence of aortic coarctation, cardiac enlargement, and hypotonia.
EUROPEAN JOURNAL OF PEDIATRICS
(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.
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)
Article
Genetics & Heredity
Xi-ji Qin, Meng-meng Xu, Jia-jun Ye, Yi-wei Niu, Yu-rong Wu, Rang Xu, Fen Li, Qi-hua Fu, Sun Chen, Kun Sun, Yue-juan Xu
Summary: This study identified three MMP21 variants associated with HTX patients with complex congenital heart defects, furthering our understanding of the genetic factors of this disease.
Article
Biology
Fei Liang, Bo Wang, Juan Geng, Guoling You, Jingjing Fa, Min Zhang, Hunying Sun, Huiwen Chen, Qihua Fu, Xiaoqing Zhang, Zhen Zhang
Summary: Chromosome 4q deletion is common in congenital heart disease patients, and the SORBS2 gene within this interval plays a role in SHF development, with its variants contributing to CHD pathogenesis. Knockdown of SORBS2 in human embryonic stem cells causes cardiomyocyte differentiation defects, which can be rescued by exogenous SHH, and Sorbs2(-/-) mouse mutants exhibit atrial septal anomalies associated with paradoxical thromboembolism.
Article
Pediatrics
Rachel K. Hopper, Steven H. Abman, Eleni G. Elia, Catherine M. Avitabile, Delphine Yung, Mary P. Mullen, Eric D. Austin, Angela Bates, Stephanie S. Handler, Jeffrey A. Feinstein, D. Dunbar Ivy, John P. Kinsella, Kenneth D. Mandl, J. Usha Raj, Lynn A. Sleeper
Summary: This study characterized comorbidities, outcomes, and treatment patterns in children with Down syndrome and pulmonary hypertension. The results showed that despite the presence of cardiac and respiratory comorbidities, children with Down syndrome-associated pulmonary hypertension have a similar survival rate to those with non-Down syndrome-associated pulmonary hypertension.
JOURNAL OF PEDIATRICS
(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
Pediatrics
Ji Hee Kwak, Seung Won Lee, Hye Ryeong Cha, June Huh, I-Seok Kang, Tae-Gook Jun, Ji-Hyuk Yang, Man Yong Han, Jinyoung Song
Summary: The study investigates the prevalence and postoperative morbidity and mortality in Down syndrome patients who underwent total correction for congenital heart disease. The results show that these patients experienced pulmonary hypertension after surgery, longer hospital stay, frequent hospitalization after surgery, and a higher rate of late mortality.
Review
Biochemistry & Molecular Biology
Nunzia Mollo, Roberta Scognamiglio, Anna Conti, Simona Paladino, Lucio Nitsch, Antonella Izzo
Summary: Down syndrome (DS), caused by trisomy of chromosome 21 (Hsa21), is a major cause of congenital heart defects (CHD). The overexpression of Hsa21 genes likely contributes to CHD, along with genes on other chromosomes, miRNAs, and lncRNAs. ECM plays a key role in cardiac morphogenesis, with many ECM genes overexpressed in trisomic fetal hearts.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Anesthesiology
Muhanad A. Aboud, Virendra K. Arya, Vikas Dutta, Robin Ducas, Waiel Al-Moustadi, Subhrashis Guha Niyogi
Summary: The population of adult patients with both Down syndrome and congenital heart disease is increasing due to better medical and surgical care. This review focuses on the perioperative medical care of these patients, providing anesthetic considerations for different comorbidities and presenting a systematic approach for their anesthetic management.
JOURNAL OF CARDIOTHORACIC AND VASCULAR ANESTHESIA
(2023)
Article
Cardiac & Cardiovascular Systems
Melissa L. Bates, Anastasiia Vasileva, Laura D. M. Flores, Yana Pryakhina, Michelle Buckman, Michael H. Tomasson, Lara R. DeRuisseau
Summary: This meta-analysis examines potential sex differences in cardiovascular diseases in patients with Down syndrome. The findings suggest that female patients with Down syndrome are at higher risk of hypertension, ischemic heart disease, and cerebrovascular disease, while males with Down syndrome have a higher risk of congenital heart disease.
AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
(2023)
Article
Pediatrics
Ioana-Cristina Olariu, Anca Popoiu, Andrada-Mara Ardelean, Raluca Isac, Ruxandra Maria Steflea, Tudor Olariu, Adela Chirita-Emandi, Ramona Stroescu, Mihai Gafencu, Gabriela Doros
Summary: Complete AVSD is more frequent and has a worse prognosis in DS patients, while unbalanced AVSD is more common in the non-DS group. Children with DS require special attention and late diagnosis is a risk factor for poor prognosis.
FRONTIERS IN PEDIATRICS
(2021)
Review
Genetics & Heredity
Leslye Venegas-Zamora, Francisco Bravo-Acuna, Francisco Sigcho, Wileidy Gomez, Jose Bustamante-Salazar, Zully Pedrozo, Valentina Parra
Summary: This article provides an overview of the genetic background of Down syndrome and the involvement of genes and non-coding RNAs in heart diseases. It also discusses the impact of altered pathways in cardiomyocytes and the role of mitochondrial and lysosomal dysfunction in heart function and development.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Edith Y. Cheng, Patricia A. Hunt, Theresa A. Naluai-Cecchini, Corrine L. Fligner, Victor Y. Fujimoto, Tanya L. Pasternack, Jackie M. Schwartz, Jody E. Steinauer, Tracey J. Woodruff, Sheila M. Cherry, Terah A. Hansen, Rhea U. Vallente, Karl W. Broman, Terry J. Hassold
Article
Biochemistry & Molecular Biology
Sheila M. Cherry, Carrie A. Adelman, Jan W. Theunissen, Terry J. Hassold, Patricia A. Hunt, John H. J. Petrini
Article
Biotechnology & Applied Microbiology
SM Cherry, PA Hunt, TJ Hassold
MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS
(2004)