A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features – Is cardiac assessment necessary for all patients with 17p13.3 microduplication?

While deletion of chromosome 17p13.3 (encompassing PAFAH1B1 and YWHAE genes) is known to result in Miller–Dieker syndrome (OMIM 247200), 17p13.3 microduplication gives rise to a condition commonly associated with developmental delay and autism spectrum disorder. We report a Chinese newborn presenting with dysmorphic features, microcephaly and valvar aortic stenosis, who was confirmed to have a 790 kb microduplication in chromosome 17p13.3 by array comparative genomic hybridization (aCGH). The patient passed away at 4 months of age with presumably life-threatening event associated with his cardiac condition. From literature review, congenital heart diseases of various kinds were identified in up to 20% of patients with 17p13.3 microduplication. We propose cardiac assessment should be part of the comprehensive evaluation of these patients.

► There are two classes of 17p13.3 microduplication. ► Class I involves YWHAE gene, but not PAFAH1B1 gene. ► Class II involves PAFAH1B1 gene, with or without YWHAE gene. ► Congenital heart diseases were identified in up to 20% of patients with 17p13.3 microduplication. ► Cardiac assessment should be part of the evaluation of patients with 17p13.3 microduplication.