Marfan syndrome

What it is

Marfan syndrome is a mutation of the fibrillin-1 gene (FBN1) on chromosome 15, with autosomal dominant inheritance. Prevalence is 1-5/10.000. Its complications are primarily cardiovascular, aortic dissection above all, yet life expectancy can be normal given timely diagnosis and appropriate management with cardiological check-ups.

How it presents

The habitus is the first thing seen: tall stature, long extremities, arachnodactyly and joint hypermobility, with a reduced upper-to-lower body segment ratio and an increased arm-to-height ratio, so that arm span is greater than height. The rest runs by system:

• Skeletal: pectus deformity, either pectus carinatum or pectus excavatum; scoliosis or kyphosis; pes planus and hindfoot valgus; high-arched palate
• Ocular: ectopia lentis, which is a lenticular dislocation, and severe myopia
• Cardiovascular: aortic dilation, regurgitation or dissection, and mitral valve prolapse; the murmur may be an aortic insufficiency murmur or the murmur of mitral valve prolapse
• Pulmonary: spontaneous pneumothorax from apical blebs
• Skin: recurrent or incisional hernia, and skin striae

Berry aneurysms belong to the same list.