The marfan syndrome in infants, with emphasis on the pulmonary pathology

Abstract

During the last 10 yr, necropsies have been performed on 4 infants with the Marfan syndrome. Clinically the arachnodactyly was so striking that each baby was admitted soon after birth with a diagnosis by the local practitioner of ? Marfan's syndrome. Each also had hypotonia or hyperextensible joints; other musculoskeletal changes were high arched palate in 3 and eventration of the right hemidiaphragm in 3 patients. Death occurred between 5 wk and 9 mth of age, of what was considered clinically to be cardiac failure. At necropsy, all 4 infants had the characteristic cardiac lesions of large redundant atrioventricular valve cusps, and post-valvular dilatarion of pulmonary trunk or aorta or both. All except the youngest child had left ventricular hypertrophy. Ocular changes, at least 3 of which were present in each infant, included ectopia lentis, spherophakia, deep anterior chamber, glaucoma, focal choroidal proliferation and blue sclera A finding seldom emphasized but so pronounced as to suggest a non-cardiac mode of death, was the presence of lobar or more widespread emphysema in all cases. This differed from congenital lobar emphysema in that bronchial cartilage and muscle were well developed rather than deficient. On the orher hand, the lungs in the Marfan syndrome all showed an irregularity of elastica in alveolar ducts and sacs, not seen in congenital emphysema or in normal controls.