Results 51 to 60 of about 2,016,730 (252)

Frequency and Diversity of Congenital Heart Disease in Children in Northern Iran [PDF]

Journal of Clinical and Basic Research, 2022
Background and objectives: One of the leading causes of neonatal death is congenital abnormalities. The most prevalent congenital condition in the world is congenital heart disease (CHD), which affects around one-quarter of all live newborns.
Mohsen Ebrahimi, Hassan Esmaeili
doaj  

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

Healthcare system inputs and patient-reported outcomes: a study in adults with congenital heart defect from 15 countries [PDF]

, 2020
BACKGROUND: The relationship between healthcare system inputs (e.g., human resources and infrastructure) and mortality has been extensively studied. However, the association between healthcare system inputs and patient-reported outcomes remains unclear ...
Sluman, MA, Fernandes, Susan M, APPROACH-IS consortium and ISACHD, Oechslin, Erwin, Soufi, Alexandra, Sluman, Maayke A, White, Kamila S,, Apers, Silke,, Cook, SC, Thomet, C, Goossens, Eva,, Soufi, Alexandra,, Kutty, Shelby, Chidambarathanu, Shanthi,, Moons, P, Callus, Edward, Jackson, JL, Cook, Stephen C, Fernandes, Susan M., Chidambarathanu, S, Lu, Chun-Wei, Soufi, A, Eriksen, Katrine, Mackie, Andrew S,, Mackie, Andrew S., Dellborg, Mikael,, Khairy, Paul,, Jackson, Jamie L., Van Bulck, L, Khairy, P, Johansson, B, Jackson, Jamie L,, Luyckx, K, Lu, CW, Goossens, Eva, Khairy, Paul, Mackie, Andrew S, Oechslin, E, Fernandes, SM, Lu, Chun-Wei,, Veldtman, Gruschen, Johansson, Bengt,, Menahem, Samuel,, Eriksen, K, Oechslin, Erwin,, Eriksen, Katrine,, Luyckx, Koen, Caruana, Maryanne, Menahem, S, Luyckx, Koen,, Apers, Silke, Veldtman, G, Moons, Philip,, Dellborg, Mikael, Enomoto, Junko,, Budts, Werner,, Enomoto, Junko, Menahem, Samuel, Alday, Luis,, White, Kamila, Moons, Philip, Alday, L, Veldtman, Gruschen,, Sluman, Maayke A,, Callus, Edward,, Goossens, E, Thomet, Corina, Sluman, Maayke A., Enomoto, J, Dellborg, M, Alday, Luis, Budts, W, Van Bulck, Liesbet,, Budts, Werner, Berghammer, M, Thomet, Corina,, Van Bulck, Liesbet, Berghammer, Malin, Caruana, M, White, K, MacKie, AS, Chidambarathanu, Shanthi, Fernandes, Susan M,, Kutty, Shelby,, Kutty, S, Apers, S, Callus, E, Cook, Stephen C,, Cook, Stephen C., Caruana, Maryanne,, Berghammer, Malin,, Johansson, Bengt, Jackson, Jamie L   +92 more
core   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Postnatal Cardiac Autonomic Nervous Control in Pediatric Congenital Heart Disease

Journal of Cardiovascular Development and Disease, 2016
Congenital heart disease is the most common congenital defect. During childhood, survival is generally good but, in adulthood, late complications are not uncommon.
Ineke Nederend, Monique R. M. Jongbloed, Eco J. C. de Geus, Nico A. Blom, Arend D. J. ten Harkel   +4 more
doaj   +1 more source

A review of congenital heart block [PDF]

, 2003
Congenital heart block is a rare disorder. It has an incidence of about 1 in 22,000 live births. It may be associated with high mortality and morbidity.
Glickstein, J., Buyon, Jill P., Friedman, Deborah M., Duncanson, L.J.   +3 more
core  

Consanguineous marriage and congenital heart defects: a case-control study in the neonatal period.

, 2006
The independent effect of consanguinity on the prevalence of congenital heart defects (CHDs), all and specific types, was investigated in newborns admitted to nine hospitals located in Beirut, Lebanon and members of the National Collaborative Perinatal ...
Fadi C., Ghina M., Makhoul G., Fadi B., Joseph R., Hala T., May K., Yunis, Khalid, Rashkidi, Joseph, Chamseddine, Fadi, Kassar, May, Khalid Y., Tamim, Hala, Mumtaz, Ghina, Bitar, Fadi, Makhoul, Ghaith   +15 more
core   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Down syndrome: Prevalence and distribution of congenital heart disease in Brazil

São Paulo Medical Journal
CONTEXT AND OBJECTIVE: Down syndrome is the most common genetic disorder, affecting 1/700 live births. Among the clinical findings, one constant concern is the high prevalence of congenital heart disease. The objective of this study was to determine the
Beatriz Elizabeth Bagatin Veleda Bermudez, Sandra Lira Medeiros, Mariane Bagatin Bermudez, Iolanda Maria Novadzki, Neiva Isabel Rodrigues Magdalena   +4 more
doaj   +1 more source

Spontaneous resolution of atrial and ventricular septal defects in Malta [PDF]

, 1998
Congenital heart disease (CHD) is the commonest congenital malformation, and ventricular septal defect (VSD) and atrial septal defect (ASD) are the commonest forms of CHD.
Bailey, Mark, Mercieca, Victor, Grech, Victor E.   +2 more
core