Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized
by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus …

The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group
of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin …

ABSTRACT Introduction: The revised Ghent nosology presents the classical features of
Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well …

Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1%(refs.,). Despite
abundant examples of monogenic CHD in humans and mice, CHD has a low absolute …

Background: Thoracic aortic aneurysms progressively enlarge and predispose to acute
aortic dissections. Up to 25% of individuals with thoracic aortic disease harbor an underlying …

Aims The targeted genetic screening of Sudden Arrhythmic Death Syndrome (SADS)
probands in a molecular autopsy has a diagnostic yield of up to 35%. Exome sequencing …

Purpose Increasing numbers of genes are being implicated in Mendelian disorders and
incorporated into clinical test panels. However, lack of evidence supporting the gene …

Introduction Recent evidence has emerged linking mutations in CDK13 to syndromic
congenital heart disease. We present here genetic and phenotypic data pertaining to 16 …

The ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the
contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 …

Haploinsufficiency in DYRK1A is associated with a recognizable developmental syndrome,
though the mechanism of action of pathogenic missense mutations is currently unclear. Here …