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In 1896 Antoine Marfan, a French paediatrician, presented a 5 year old girl to the Medical Society of the Paris Hospitals. She had striking abnormalities in her skeletal system with elongation of her long bones and fingers. Association of arachnodactyly with dislocated lenses was described in 1914 and the adoption of this as a syndrome was based upon these characteristic phenotypic appearances. Autosomal dominant inheritance was recognised in 1931. The first descriptions of a dilated aortic root and of dissection were in 1943.
The main cause of premature death in those with Marfan syndrome is dissection of the ascending aorta resulting in tamponade, left ventricular failure caused by aortic regurgitation, myocardial ischaemia from disruption of the coronary orifices, and stroke if the arch vessels are involved. Reports vary but a life expectancy of between 30–40 years of age was typical in the era before root replacement, with most of these premature deaths being attributable to aortic disease.1 2 Avoidable deaths in the teens and 20s are not rare. There is a great clinical variability so the pool of patients, and hence the denominator against which the death rate is calculated, depends upon the clinical discipline of those collecting the cases and whether the emphasis is on lethal aortic manifestations, or on abnormalities of the eyes, or on spinal deformity. Neonatal Marfan syndrome has an extremely poor prognosis. Those who have survived to present in mature adult life are a favourable subset of the total spectrum of cases. Different clinics collect rather different sets of people with Marfan syndrome, but for those with an abnormal aorta the expectation of life is greatly improved by aortic root replacement.3 4
Diagnosing Marfan syndrome
Diagnosis by nosology
The Berlin Nosology of Heritable Disorders of Connective Tissue was published in 1986.5 Under the headings skeletal, ocular, cardiovascular, pulmonary, …
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