Heritable connective tissue diseases, vasculitides, and the anaesthetist

Abstract

### Key points Connective tissues (CTs) serve to support, separate, or connect various tissues in the body. They are composed of collagen, elastin, proteoglycans, and glycoproteins. Genetic defects in a single component of CTs may manifest in more than one organ and as such CT disorders (CTD) have overlapping features, making diagnosis challenging. CTD can be divided into two main groups: HDCT are a group of genetic conditions commonly caused by single-gene mutations with a variable inheritance pattern. They vary in reported incidence but are generally described as being rare. A review of the most common HDCT is presented below. ### Marfan's syndrome Originally described in 1896, the incidence is ∼2–3 per 10 000 individuals, making it the most common autosomal dominant (AD) disorder of the HDCT.1 Life expectancy has improved to ∼72 yr due to improved management. The genetic mutation responsible is defective fibrillin-1 (FBN1) gene on chromosome 15. Fibrillin-1 forms the main component of microfibrils which form the elastic tissue of aortic media. Mutations increase the susceptibility of elastic fibres to proteolysis leading to stiff aortic walls. Diagnosis is based on the revised Ghent consensus criteria. Table 1 outlines the major clinical manifestations and highlights features pertinent to anaesthetists. View this table: Table 1 Clinical …