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Bicuspid aortic valve aortopathy is characterized by embryonic epithelial to mesenchymal transition and endothelial instability
AbstractBicuspid aortic valve (BAV) is the most common congenital heart malformation frequently associated with ascending aortic aneurysm (AscAA)....
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Aorta-specific DNA methylation patterns in cell-free DNA from patients with bicuspid aortic valve-associated aortopathy
BackgroundThe dilation of the aorta that occurs as a consequence of a congenitally bicuspid aortic valve (BAV) is associated with a risk of...
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Two MicroRNAs, miR-34a and miR-125a, Are Implicated in Bicuspid Aortopathy by Modulating Metalloproteinase 2
It has been recognized that wall shear stress plays an important role in the development of Bicuspid Aortopathy (BA), but the intrinsic mechanism is...
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3D Characterization of the Aortic Valve and Aortic Arch in Bicuspid Aortic Valve Patients
Patients with bicuspid aortic valve (BAV) commonly have associated aortic stenosis and aortopathy. The geometry of the aortic arch and BAV is not...
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Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease
Bicuspid aortic valve (BAV) is the most common congenital heart defect with a high index of heritability. Patients with BAV have different clinical...
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SPP1/osteopontin: a driver of fibrosis and inflammation in degenerative ascending aortic aneurysm?
AbstractDegenerative ascending aortic aneurysm (AscAA) is a silent and potentially fatal disease characterized by excessive vascular inflammation and...
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SMAD4 variants and its genotype–phenotype correlations to juvenile polyposis syndrome
BackgroundJuvenile polyposis syndrome (JPS), a rare autosomal dominant syndrome, affects one per 100 000 births, increasing lifetime cancer risk by 9...
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Blood–wall fluttering instability as a physiomarker of the progression of thoracic aortic aneurysms
The diagnosis of aneurysms is informed by empirically tracking their size and growth rate. Here, by analysing the growth of aortic aneurysms from...
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SMAD6-deficiency in human genetic disorders
SMAD6 encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signalling pathway. Until now, SMAD6-deficiency has been associated...
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Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy
Progressive dilatation of the thoracic aorta leads to thoracic aortic aneurysm (TAA), which is often asymptomatic but predisposes to lethal aortic...
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Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene
Bicuspid aortic valve (BAV) is the most common congenital heart defect (CHD), affecting 1–2% of the population. BAV is associated with thoracic...
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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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Ex Vivo Analysis of an Association of Mechanical Strength of Dilated Ascending Aorta with Tissue Matrix Metalloproteinases and Cytokines
We analyzed the associations of the mechanical strength of dilated ascending aorta wall (intraoperative samples from 30 patients with non-syndromic...
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Connective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-β Signaling
Marfan Syndrome (MFS) and Loeys-Dietz Syndrome (LDS) represent heritable connective tissue disorders that segregate with a similar pattern of...
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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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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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Deep learning enables genetic analysis of the human thoracic aorta
Enlargement or aneurysm of the aorta predisposes to dissection, an important cause of sudden death. We trained a deep learning model to evaluate the...
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Activation of TGF-β signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1
Loeys–Dietz syndrome (LDS) is caused by variants of transforming growth factor-β (TGF-β)-related genes and is characterized by aortic aneurysm and...
