Results 121 to 130 of about 41,590 (263)

Mitral and tricuspid valve repair in an operated case of complete atrioventricular septal defect: A surgical challenge case report!

open access: yesSAGE Open Medical Case Reports
Atrioventricular canal defects constitute about 3%–5% of total congenital heart defects, with a prevalence of 0.3–0.4/1000 live births. Mitral valve defects are associated with atrioventricular canal (septal) defects in most cases.
Dhanesh Kumar   +7 more
doaj   +1 more source

Pentalogy of Cantrell : the first Maltese case with successful outcome [PDF]

open access: yes, 1997
Pentalogy of Cantrell is a rare disorder which was first described by Cantrell and his colleagues in 1958. It is comprised of congenital heart disease and midline defects.
Grech, Victor E.   +2 more
core  

Cardiovascular Health in Women—Across the Lifespan

open access: yesClinical Endocrinology, Volume 104, Issue 6, Page 539-555, June 2026.
ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar   +5 more
wiley   +1 more source

Familial secundum atrial septal defect with dysrhythmia associated with web neck

open access: yesThe Turkish Journal of Pediatrics, 2002
Most cases of atrial septal defect occur sporadically, but a few families have the defect as a genetic abnormality. A family having familial type secundum atrial septal defect with dysrhythmia associated with web neck is reported.
Zübeyir Kiliç   +4 more
doaj  

Concepts in cardiology : a historical perspective [PDF]

open access: yes, 1999
Our current knowledge of the anatomy and physiology of the circulatory system has been reached by deduction and reasoning over several centuries.
Grech, Victor E.   +1 more
core  

Farnesyltransferase Deficiency in Cardiomyocytes Initiates Senescence and Contributes to Cardiac Fibrosis

open access: yesAdvanced Science, Volume 13, Issue 26, 8 May 2026.
Lipid overload suppresses SREBF2‐mediated FNTB expression, leading to defective Lamin A maturation and nuclear envelope instability. This nuclear catastrophe triggers a pro‐fibrotic senescence program in cardiomyocytes. Notably, restoring nuclear integrity via AAV9‐based gene therapy effectively attenuates cardiac remodeling, identifying the ...
Yuxiao Chen   +16 more
wiley   +1 more source

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1083-1086, May 2026.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat   +2 more
wiley   +1 more source

Frequency and pattern of Congenital Heart Defects in children with Down’s Syndrome

open access: yesGomal Journal of Medical Sciences, 2012
Background: Patients with Down’s syndrome are prone to have congenital heart defects. This study was conducted to evaluate the frequency of various congenital heart defects in children with Down’s syndrome in Khyber Pukhtunkhwa province.
Inayatullah Khan, Taj Muhammad
doaj  

Mutational screening of exon 1 of smad7 in Malay patients with ventricular septal defect [PDF]

open access: yes, 2015
Congenital heart disease (CHD) affects approximately 8 in every 1000 live births with ventricular septal defect (VSD) being the most common phenotype.
Hashim, Hashima
core  

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

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