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Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in
The intent of this review is to provide the clinician with a summary of what is currently known about the contribution of genetics to the origin of congenital heart disease. Techniques are discussedExpand
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NKX2.5 mutations in patients with congenital heart disease.
OBJECTIVES The purpose of this study was to estimate the frequency of NKX2.5 mutations in specific cardiovascular anomalies and investigate genotype-phenotype correlations in individuals with NKX2.5Expand
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Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).
Sick sinus syndrome (SSS) describes an arrhythmia phenotype attributed to sinus node dysfunction and diagnosed by electrocardiographic demonstration of sinus bradycardia or sinus arrest. AlthoughExpand
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Comparison of magnetic resonance feature tracking for strain calculation with harmonic phase imaging analysis.
OBJECTIVES To compare a steady-state free precession cine sequence-based technique (feature tracking [FT]) to tagged harmonic phase (HARP) analysis for peak average circumferential myocardial strainExpand
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NKX2.5 Mutations in Patients With Tetralogy of Fallot
Background—Recent reports have implicated mutations in the transcription factor NKX2.5 as a cause of tetralogy of Fallot (TOF). To estimate the frequency of NKX2.5 mutations in TOF patients and toExpand
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Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.
Heterozygous mutations in NKX2.5, a homeobox transcription factor, were reported to cause secundum atrial septal defects and result in atrioventricular (AV) conduction block during postnatal life. ToExpand
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Bicuspid aortic valve is heritable.
OBJECTIVES Previous studies have established familial clustering of bicuspid aortic valve (BAV), presumably indicating genetic inheritance. Our objective was to statistically test whether theExpand
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Extracellular Matrix Remodeling and Organization in Developing and Diseased Aortic Valves
Heart valve disease is an important cause of morbidity and mortality worldwide. Little is known about valve disease pathogenesis, but increasing evidence implicates a genetic basis for valve disease,Expand
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Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.
Mutations in PRKAG2, the gene for the gamma 2 regulatory subunit of AMP-activated protein kinase, cause cardiac hypertrophy and electrophysiologic abnormalities, particularly preexcitationExpand
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Hypoplastic left heart syndrome: current considerations and expectations.
In the recent era, no congenital heart defect has undergone a more dramatic change in diagnostic approach, management, and outcomes than hypoplastic left heart syndrome (HLHS). During this time,Expand
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