[Marfan's syndrome]

Marfan's disease is a hereditary condition (usually dominant) characterised by variously significant skeletal muscle, ocular, cardiac and above all respiratory alterations attributable to congenital disorder of the fibrous support proteins (particularly of collagen and elastin). Sporadic forms whose interpretation is uncertain, however may, also be observed. The exact nature of the biochemical error responsible for the syndrome, however, is not known. In the absence of fully indicative laboratory tests, diagnosis is based on recognition of he typical lesions and their systemic nature. Careful symptomatological examination of suspected subjects may lead to the detection of less common sites such as the respiratory system. Personal experience shows that it can also reveal clinically obsolete lesions, such as heart impairment discovered in some cases solely through elevation of the polycardiographic telediastolic index (in inverse relation to the pattern of the echocardiographic telediastolic volume), which is an expression of reduced ventricular compliance, and the presence of areas with a low thallium uptake, offering scintigraphic evidence of fibrosis replacing destroyed muscle fibres. Prognosis depends on the clinical expressiveness of the disease, i.e. the apparatuses involved and the extent of their damage. Heart alterations and their extent are undoubtedly an aggravating factor quoad vitam. The current position with regard to both drug management and possible surgical treatment is also discussed.