[Marfan's syndrome in Iceland]

Abstract

Marfan's syndrome is a heritable collagen disorder manifested by defects in the ocular, skeletal and cardiovascular systems. It is inherited as an autosomal dominant trait. The objectives of this study were to study the prevalence and clinical presentation of Marfan's syndrome in Iceland. We assessed the records of patients diagnosed with Marfan's syndrome during the years 1989-94 at all the major hospitals in Iceland. Hospital cardiologists, pediatricians and ophthalmologists gave valuable information, as did some general practitioners. All patients who agreed to participate were evaluated by an ophthalmologic inspection and an echocardiogram was obtained. A family history was taken and a general physical examination was performed. Twenty two patients were evaluated, at the age seven to 71 years. Seventeen of them had a definitive diagnosis of Marfan's syndrome with a mean age of 27 years. Five patients did not meet the clinical criteria for Marfan's syndrome. Accordingly the prevalence of Marfan's syndrome in Iceland is 6.5/100.000. Ocular involvement was observed in 14 (82%) and 11 (65%) had a dislocated lens. Cardiovascular abnormalities were seen in 11 (65%) patients, nine (53%) had aortic root dilatation and six (35%) had mitral valve prolaps. All patients had skeletal abnormalities. They were tall, skinny, with long extremeties and arachnodactyly. Pectus carinatum was observed in seven (41%) patients. A family history was noted in 12 patients and five (29%) seem to be sporadic cases. Thus, Marfan's syndrome exists in Iceland and it's prevalence and clinical presentation seems to be in concordance with other published studies in the western world.