"flexion deformity of the little finger(s)"
"The Ghent Nosology was established in 1995 for the clinical diagnosis of the disease 7."
"The condition results from a mutation in the fibrillin 1 (FBN1) gene located on chromosome 15q21.1 which is responsible for cross-linking collagen. In the majority of cases it is inherited in an autosomal dominant fashion, although in up to one-third of cases the mutation is de novo. The disease has high genetic penetrance but with variable phenotypic expression even amongst affected family members."
"Studies show a regulatory relationship between extracellular microfibrils and TGFβ signalling, so an abnormality in either can cause a Marfanoid phenotype 9."
"The ascending aorta is vulnerable in hereditary aortopathies such as Marfan syndrome because neural crest- and second heart field-derived smooth muscle cell/microfibril-elastin complexes have an intrinsically different contractile phenotype and are more dependent on intact fibrillin-1/TGF-β regulation for structural and mechanical integrity than somite-derived descending aortic smooth muscle. This lineage-specific vulnerability is compounded by the disproportionately high haemodynamic (circumferential, radial and torsional) stress in the aortic root and ascending aorta, which directly absorb the pulsatile load of left ventricular ejection 14."
"angiotensin receptor blockers: these agents are also TGFβ antagonists significantly and reduce cardiovascular and other somatic features 9"
Expected headings
"Diagnostic criteria"
"Skeletal"
"Cardiovascular"
"Pulmonary"
"The estimated prevalence is around 2-6 per 100,000 2,5. There is no recognised gender or racial predilection."
"There are no specific radiographic features of Marfan syndrome but the following signs and complications of the disease may be seen in each system on a range of modalities:"
"The ascending aorta is vulnerable in hereditary aortopathies such as Marfan syndrome because neural crest- and second heart field-derived smooth muscle cell/microfibril-elastin complexes have an intrinsically different contractile phenotype and are more dependent on intact fibrillin-1/TGF-β regulation for structural and mechanical integrity than somite-derived descending aortic smooth muscle. This lineage-specific vulnerability is compounded by the disproportionately high haemodynamic (circumferential, radial and torsional) stress in the aortic root and ascending aorta, which directly absorb the pulsatile load of left ventricular ejection 14."
"homocystinuria: may resemble those with Marfan syndrome in some aspects 8; ectopia lentis, however, is downward as opposed to Marfan and intellectual disability is also a common feature"