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Human Genetics of Hypoplastic Left Heart Syndrome
Hypoplastic left heart syndrome (HLHS) is a severe congenital cardiovascular malformation characterized by hypoplasia of the left ventricleLeft...
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Clinical Presentation and Therapy of Hypoplastic Left Heart Syndrome
Hypoplastic left heart syndrome (HLHS) is a complex congenital heart defect characterized by several abnormalities that result in a significantly...
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Molecular Pathways and Animal Models of Hypoplastic Left Heart Syndrome
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease (CHD) with underdevelopment of left-sided heart structures. While...
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Fluid Mechanics of Fetal Left Ventricle During Aortic Stenosis with Evolving Hypoplastic Left Heart Syndrome
In cases of fetal aortic stenosis and evolving Hypoplastic Left Heart Syndrome (feHLHS), aortic stenosis is associated with specific abnormalities...
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Myocardial Biomechanics and the Consequent Differentially Expressed Genes of the Left Atrial Ligation Chick Embryonic Model of Hypoplastic Left Heart Syndrome
Left atrial ligation (LAL) of the chick embryonic heart is a model of the hypoplastic left heart syndrome (HLHS) where a purely mechanical...
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Fluid Mechanical Effects of Fetal Aortic Valvuloplasty for Cases of Critical Aortic Stenosis with Evolving Hypoplastic Left Heart Syndrome
Fetuses with critical aortic stenosis (FAS) are at high risk of progression to HLHS by the time of birth (and are thus termed “evolving HLHS”). An in-utero...
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Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome
Germline gain of function variants in the oncogene ABL1 cause congenital heart defects and skeletal malformations (CHDSKM) syndrome. Whether a...
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Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease
Pathogenic variants in NOTCH1 are associated with non-syndromic congenital heart disease (CHD) and Adams–Oliver syndrome (AOS). The clinical...
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Clinical Presentation and Therapy of Tricuspid Atresia and Univentricular Heart
Although the terms “single ventricle” and “univentricular heart” are frequently used to describe a variety of complex congenital heart defects, in...
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Clinical Presentation and Therapy of Tetralogy of Fallot and Double-Outlet Right Ventricle
Tetralogy of Fallot (TOF) is the most common cyanotic heart defect. TOF consists of the combination of four anomalies (Fig. 35.1): (1) a large...
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Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing
SMG9-deficiency syndrome, also known as heart and brain malformation syndrome, is a very rare congenital genetic disorder mainly characterized by...
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Deciphering Congenital Heart Disease Using Human Induced Pluripotent Stem Cells
Congenital heart disease (CHD) is a leading cause of birth defect-related death. Despite significant advances, the mechanisms underlying the...
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Human Genetics of Tricuspid Atresia and Univentricular Heart
Tricuspid atresia (TA) is a rare congenital heart condition that presents with a complete absence of the right atrioventricular valve. Because of the...
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Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
Orofaciodigital syndrome is a distinctive subtype of skeletal ciliopathies. Disease-causing variants in the genes encoding the CPLANE complex result...
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Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease
Congenital heart disease (CHD) is the most common birth defect, and up to 50% of infants with CHD require cardiovascular surgery early in life....
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CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome
Turner syndrome (TS) is a chromosomal disorder caused by complete or partial loss of the second sex chromosome and exhibits phenotypic heterogeneity,...
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Bayesian Optimization-Based Inverse Finite Element Analysis for Atrioventricular Heart Valves
Inverse finite element analysis (iFEA) of the atrioventricular heart valves (AHVs) can provide insights into the in-vivo valvular function, such as...
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Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study
BackgroundThe contribution of genetic variants to congenital heart defects (CHDs) has been investigated in many postnatal cohorts but described in...
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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
Nuclear receptor subfamily 2 group F member 2 ( NR2F2 or COUP-TF2 ) encodes a transcription factor which is expressed at high levels during mammalian...
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Copy number variant analysis for syndromic congenital heart disease in the Chinese population
BackgroundSyndromic congenital heart disease (CHD) is among the most severe conditions in the pediatric population. Copy number variant (CNV) is an...
