Serendipitous Marfan syndrome with unusual presentation in children

Sun Mi Her, Da Yee Kang, Lucy

Abstract

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder resulting from pathologic mutation of the fibrillin-1 gene (FBN1) on chromosome 15. The clinical features are not obvious in children, so diagnosis may be delayed if there is no family history. First case, a 6-year-old boy is referred for abnormal electrocardiography (Borderline prolonged QT) beforehand his tonsillectomy. His arm span–to-height ratio was 0.96 and other clinical features of MFS were not yet apparent. On his echocardiogram, the aortic dilatation (z score>2) was noticed and gene evaluation demonstrated missense variant (c.7606G>A) in 62 exon of FBN1 gene. Second case, a 14-year-old healthy boy visited our hospital with dizziness and pre-syncope. We confirmed his high arm span–to-height ratio (1.01) and myopia. On his echocardiogram, the aortic dilatation (z score>2) was showed and he was diagnosed with MFS through the gene evaluation of missense variant (c.4267G > A) in 2 exon of FBN1 gene.

Relevant Publications in Journal of Pediatric health care and medicine