Cardiovascular findings in duplication 17p11.2 syndrome

John Jefferies, Ricardo H. Pignatelli, Hugo Martinez, Patricia J. Robbins-Furman, Pengfei Liu, Wenli Gu, James R. Lupski, Lorraine Potocki

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)90-94
Number of pages5
JournalGenetics in Medicine
Volume14
Issue number1
DOIs
StatePublished - Jan 1 2012
Externally publishedYes

Fingerprint

Cardiovascular Abnormalities
Echocardiography
Electrocardiography
Chromosome Duplication
Patent Foramen Ovale
Comparative Genomic Hybridization
Aortic Valve
Age of Onset
Physical Examination
Potocki-Lupski syndrome
Heart Diseases
Cardiovascular Diseases
Guidelines

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Jefferies, J., Pignatelli, R. H., Martinez, H., Robbins-Furman, P. J., Liu, P., Gu, W., ... Potocki, L. (2012). Cardiovascular findings in duplication 17p11.2 syndrome. Genetics in Medicine, 14(1), 90-94. https://doi.org/10.1038/gim.0b013e3182329723

Cardiovascular findings in duplication 17p11.2 syndrome. / Jefferies, John; Pignatelli, Ricardo H.; Martinez, Hugo; Robbins-Furman, Patricia J.; Liu, Pengfei; Gu, Wenli; Lupski, James R.; Potocki, Lorraine.

In: Genetics in Medicine, Vol. 14, No. 1, 01.01.2012, p. 90-94.

Research output: Contribution to journalArticle

Jefferies, J, Pignatelli, RH, Martinez, H, Robbins-Furman, PJ, Liu, P, Gu, W, Lupski, JR & Potocki, L 2012, 'Cardiovascular findings in duplication 17p11.2 syndrome', Genetics in Medicine, vol. 14, no. 1, pp. 90-94. https://doi.org/10.1038/gim.0b013e3182329723
Jefferies, John ; Pignatelli, Ricardo H. ; Martinez, Hugo ; Robbins-Furman, Patricia J. ; Liu, Pengfei ; Gu, Wenli ; Lupski, James R. ; Potocki, Lorraine. / Cardiovascular findings in duplication 17p11.2 syndrome. In: Genetics in Medicine. 2012 ; Vol. 14, No. 1. pp. 90-94.
@article{d5adfc963aee4e89935da3a75dfda76c,
title = "Cardiovascular findings in duplication 17p11.2 syndrome",
abstract = "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.",
author = "John Jefferies and Pignatelli, {Ricardo H.} and Hugo Martinez and Robbins-Furman, {Patricia J.} and Pengfei Liu and Wenli Gu and Lupski, {James R.} and Lorraine Potocki",
year = "2012",
month = "1",
day = "1",
doi = "10.1038/gim.0b013e3182329723",
language = "English (US)",
volume = "14",
pages = "90--94",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "1",

}

TY - JOUR

T1 - Cardiovascular findings in duplication 17p11.2 syndrome

AU - Jefferies, John

AU - Pignatelli, Ricardo H.

AU - Martinez, Hugo

AU - Robbins-Furman, Patricia J.

AU - Liu, Pengfei

AU - Gu, Wenli

AU - Lupski, James R.

AU - Potocki, Lorraine

PY - 2012/1/1

Y1 - 2012/1/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85028100693&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85028100693&partnerID=8YFLogxK

U2 - 10.1038/gim.0b013e3182329723

DO - 10.1038/gim.0b013e3182329723

M3 - Article

VL - 14

SP - 90

EP - 94

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 1

ER -