Congenital heart disease: current knowledge about causes and inheritance.

GM Blue, EP Kirk, GF Sholler… - Medical Journal of …, 2012 - search.ebscohost.com
The article offers clinical information on congenital heart disease (CHD), a multifactorial
disease that is caused by various genetic and environmental factors. It describes the …

Cardiovascular anomalies associated with chromosome 22q11. 2 deletion syndrome

K Momma - The American journal of cardiology, 2010 - Elsevier
Cardiovascular anomalies are present in 80% of neonates with 22q11. 2 deletion syndrome.
Three genes in chromosome 22q11. 2 (TBX1, CRKL, and ERK2) have been identified …

[HTML][HTML] Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

NM Sweeney, SA Nahas, S Chowdhury… - NPJ genomic …, 2021 - nature.com
Congenital heart disease (CHD) is the most common congenital anomaly and a major cause
of infant morbidity and mortality. While morbidity and mortality are highest in infants with …

Cardiovascular disease in Down syndrome

P Versacci, D Di Carlo, MC Digilio… - Current opinion in …, 2018 - journals.lww.com
Cardiovascular disease in Down syndrome : Current Opinion in Pediatrics Cardiovascular
disease in Down syndrome : Current Opinion in Pediatrics Log in or Register Subscribe to …

Congenital heart diseases and cardiovascular abnormalities in 22q11. 2 deletion syndrome: from well‐established knowledge to new frontiers

M Unolt, P Versacci, S Anaclerio… - American journal of …, 2018 - Wiley Online Library
Congenital heart diseases (CHDs) and cardiovascular abnormalities are one of the pillars of
clinical diagnosis of 22q11. 2 deletion syndrome (22q11. 2DS) and still represent the main …

[HTML][HTML] Genetic syndromes associated with congenital heart disease

JM Ko - Korean circulation journal, 2015 - synapse.koreamed.org
Recent research has demonstrated that genetic alterations or variations contribute
considerably to the development of congenital heart disease. Many kinds of genetic tests are …

[HTML][HTML] Determinants of outcome after surgical treatment of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries

A Carotti, SB Albanese, S Filippelli, L Ravà… - The Journal of Thoracic …, 2010 - Elsevier
OBJECTIVES: Identification of variables influencing surgical outcome in patients treated for
pulmonary atresia with ventricular septal defect and major aortopulmonary collateral …

[HTML][HTML] Surgical algorithm and results for repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals

RD Mainwaring, WL Patrick, SJ Roth, K Kamra… - The Journal of thoracic …, 2018 - Elsevier
Objective Pulmonary atresia with ventricular septal defect and major aortopulmonary
collateral arteries is a complex and heterogeneous form of congenital heart disease. There …

Congenital heart disease and genetic syndromes: new insights into molecular mechanisms

G Calcagni, M Unolt, MC Digilio, A Baban… - Expert review of …, 2017 - Taylor & Francis
Introduction: Advances in genetics allowed a better definition of the role of specific genetic
background in the etiology of syndromic congenital heart defects (CHDs). The identification …

Efficacy of prenatal diagnosis of major congenital heart disease on perinatal management and perioperative mortality: a meta-analysis

YF Li, KY Zhou, J Fang, C Wang, YM Hua… - World Journal of …, 2016 - Springer
Background There is no consensus on the effectiveness of prenatal diagnosis except for
hospitalized outcomes. Hence, a meta-analysis of published literature was conducted to …