Structure and Function of the Extracellular Matrix in Normal and Pathological Conditions: Looking at the Bicuspid Aortic Valve

This review will focus on the structure and role of the ECM in physiological conditions and pathological alterations, based on a cardiological case. The patient has a particular case of connective tissue disease (CTD), specifically bicuspid aortic valve type (BAV). The presented clinical case is as follows: a 34-year-old patient has been diagnosed with BAV. The subject is concerned about how his condition may affect his daily life. The subject is worried about passing the disease on to his children. He asked experts for advice on the causes, possible consequences and treatments. BAV is a major congenital heart defect, affecting 1-2% of the global population. This review provides an overview of the structure and function of the ECM, which plays an important role in the architecture of heart valves and vascular structures associated with connective tissue disease. The BAV has been observed to affect the connective tissue, although the underlying causes remain unclear. ECM is a 3-dimensional network of macromolecules that provides structural support for cells and tissues. Extensive research has established the regulatory functions of ECM, given its role in orchestrating cell signalling, functions, properties and morphology. Extracellular and cell-bound factors represent a substantial proportion of the major constituents of the ECM. The following proteins and glycoproteins are of particular interest: collagen, elastin, laminins, tenascins, proteoglycans, glycosaminoglycans and hyaluronan. Relevant cell receptors include CD44.