-
Article
Open AccessExpanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
Pathogenic loss-of-function variants in BGN, an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrome (MRLS), a thoracic aortic aneurysm/dissection syndrome. Since the initial publication of...
-
Article
Open AccessSMAD6-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 with three distinctive human congenital conditions, i.e., conge...
-
Chapter
Meester-Loeys Syndrome
Meester-Loeys syndrome is an X-linked form of syndromic thoracic aortic aneurysm, characterized by the involvement of multiple organ systems. More specifically, the cardiovascular, skeletal, craniofacial, cuta...
-
Article
Open AccessMutated ATP10B increases Parkinson’s disease risk by compromising lysosomal glucosylceramide export
Parkinson’s disease (PD) is a progressive neurodegenerative brain disease presenting with a variety of motor and non-motor symptoms, loss of midbrain dopaminergic neurons in the substantia nigra pars compacta ...
-
Chapter
Pathophysiology and Principles of Management of Hereditary Aneurysmal Aortopathies
Aortic aneurysm refers to a pathological dilatation of the aorta and predisposes to rupture and dissection. It is an important health problem, accounting for 1–2% of all deaths in the Western population. Thora...
-
Chapter
Bicuspid Aortic Valve
An aortic valve typically consists of three leaflets: two are named after their orientation relative to the left and right coronary artery, while the third is called the non-coronary cusp. In 0.5–2% of the gen...
-
Chapter
Clinical Aspects of Heritable Connective Tissue Disorders
Connective tissue surrounds, supports, and connects a multitude of tissues and organs. It is composed of a cellular component (mostly fibroblasts) and extracellular matrix, with the latter consisting of fibers...
-
Chapter
Genetics of Marfan Syndrome and Loeys-Dietz Syndrome
Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are two clinically related aortic aneurysm conditions. LDS shows significant clinical overlap with MFS as regards its vascular and skeletal features, includ...
-
Article
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm
Bicuspid aortic valve (BAV) is a common congenital heart defect (population incidence, 1–2%)1–3 that frequently presents with ascending aortic aneurysm (AscAA)4. BAV/AscAA shows autosomal dominant inheritance wit...
-
Article
Open AccessFLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature
Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typ...
-
Article
Aetiology and management of hereditary aortopathy
Aortic aneurysms are a major health problem accounting for 1–2% of all deaths in Western countries
The gene...
-
Chapter
Bicuspid Aortic Valve
An aortic valve typically consists of three valve leaflets, named after their orientation relative to the left and right coronary artery. In 0.5–2 % of the general population, the aortic valve comprises only t...
