Marfan syndrome

Marfan syndrome is a genetic connective-tissue disorder affecting the cardiovascular, ocular, and musculoskeletal systems. It can occur as an inherited or de novo genetic condition, so absence of a relevant family history does not exclude the diagnosis. The phenotype may overlap with Lujan syndrome (formerly Lujan–Fryns syndrome) and classic homocystinuria, particularly in its tall, slender habitus, long limbs, and long fingers, but these conditions are genetically distinct. Lujan syndrome is particularly associated with intellectual and developmental impairment, characteristic facial features, and hypernasal speech, whereas classic homocystinuria may be distinguished by intellectual impairment, ectopia lentis, thromboembolic disease, and biochemical abnormalities including elevated homocysteine. A distinctive presentation of Marfan syndrome may include long fingers with hyperextensibility, lens subluxation, and aortic dilatation.

It can present with psychiatric features such as anxiety, depression, ADHD and autism spectrum disorder (ASD). Psychotic disorders have also been reported, although their association with Marfan syndrome remains uncertain. Neuropsychiatric manifestations can occur in adulthood.

From a morphologic lens perspective, other features include (but are not limited to):

• Midface retrusion

• Downslanted palpebral fissures

• Long fingers

Other characteristic features include aortic aneurysm or dissection, mitral valve prolapse, myopia and other ocular abnormalities, pectus deformity, scoliosis, and joint laxity. Dural ectasia may cause low back or radicular pain, headache, or sensory symptoms. Spontaneous pneumothorax and sleep-disordered breathing may also occur.

Early diagnosis is important to identify and manage potentially life-threatening cardiovascular complications, particularly progressive aortic dilatation and aortic dissection; to detect ocular and musculoskeletal complications; and to allow appropriate ongoing surveillance and management.