• The specific situation of the patient. Unless otherwise provided for by national regulations,
off-label use of medication should be limited to situations where it is in the patient's interest …

Aortic disease has many forms including aortic aneurysm and dissection, aortic coarctation
or abnormalities in aortic function, such as loss of aortic distensibility. Genetic analysis in …

Bicuspid aortic valve (BAV) is the most common congenital heart defect, found in up to 2% of
the population and associated with a 30% lifetime risk of complications. BAV is inherited as …

Tbx20 is a member of the Tbx1 subfamily of T-box-containing genes and is known to play a
variety of fundamental roles in cardiovascular development and homeostasis as well as …

Importance Nonsyndromic bicuspid aortic valve (nsBAV) is the most common congenital
heart valve malformation. BAV has a heritable component, yet only a few causative genes …

Ollier disease (OD) and Maffucci Syndrome (MS) are rare disorders characterized by
multiple enchondromas, commonly causing bone deformities, limb length discrepancies …

Aortic aneurysm is characterized by a pathological dilation at specific predilection sites of
the vessel and potentially results in life-threatening vascular rupture. Herein, we established …

Genome-wide association studies (GWASs) have identified hundreds of risk loci for coronary
artery disease (CAD). However, non-European populations are underrepresented in …

Thoracic aortic aneurysms (TAA) are permanent and localized dilations of the aorta that
predispose patients to a life-threatening risk of aortic dissection or rupture. The identification …

Heritable thoracic aortic disease puts patients at risk for aortic aneurysms, rupture, and
dissections. The diagnosis and management of this heterogenous patient population …