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. 2012 Jan;14(1):90-4.
doi: 10.1038/gim.0b013e3182329723. Epub 2011 Oct 17.

Cardiovascular Findings in Duplication 17p11.2 Syndrome

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Cardiovascular Findings in Duplication 17p11.2 Syndrome

John L Jefferies et al. Genet Med. .
Free PMC article


Purpose: Cardiovascular abnormalities are newly recognized features of duplication 17p11.2 syndrome. In a single-center study, we evaluated subjects with duplication 17p11.2 syndrome for cardiovascular abnormalities.

Methods: Twenty-five subjects with 17p11.2 duplication identified by chromosome analysis and/or array-based comparative genomic hybridization were enrolled in a multidisciplinary protocol. In our clinical evaluation of these subjects, we performed physical examinations, echocardiography, and electrocardiography. Three of these subjects were followed up longitudinally at our institution.

Results: Cardiovascular anomalies, including structural and conduction abnormalities, were identified in 10 of 25 (40%) of subjects with duplication 17p11.2 syndrome. The most frequent abnormality was dilated aortic root (20% of total cohort). Bicommissural aortic valve (2/25), atrial (3/25) and ventricular (2/25) septal defects, and patent foramen ovale (4/25) were also observed.

Conclusion: Duplication 17p11.2 syndrome is associated with structural heart disease, aortopathy, and electrocardiographic abnormalities. Individuals with duplication 17p11.2 syndrome should be evaluated by electrocardiography and echocardiography at the time of diagnosis and monitored for cardiovascular disease over time. Further clinical investigation including longitudinal analysis would likely determine the age of onset and characterize the progression (if any) of vasculopathy in subjects with duplication 17p11.2 syndrome, so that specific guidelines can be established for cardiovascular management.


Figure 1
Figure 1. Subject 2211 in a parasternal long-axis view, the dilatation of the aorta is observed in different segments
The aortic annulus diameter is the distance between 1 and 1 (Z score: 3.27); the aortic root diameter is the distance between 2 and 2 (Z score: 6.03); and the sinotubular junction is the distance between 3 and 3 (Z score: 9.06). Ao, aorta; LA, left atrium; LV, left ventricle; RV, right ventricle.
Figure 2
Figure 2. Summary of duplication sizes
The position and size of the genomic rearrangements (red (duplication), blue (triplication), and green (deletion) bars), as determined by array CGH are depicted for each subject. An ideogram of chromosome 17p, with a scale indicating the genomic coordinates (version hg18), and the locations of PMP22 and RAI1 genes are also included. Subject 2343 (mosaic marker) is not shown. Cardiac phenotype of each patient with CHD is briefly summarized in Table 1 and detailed in the text. Modified with permission from Am J Hum Genet. CGH, comparative genomic hybridization; CHD, congenital heart defect.

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