Peripheral pulmonary artery stenosis: an unusual case and discussion of genetic associations

My-Linh D Ngo; Avichal Aggarwal; Jarrod D Knudson

doi:10.1111/chd.12198

Peripheral pulmonary artery stenosis: an unusual case and discussion of genetic associations

Congenit Heart Dis. 2014 Sep-Oct;9(5):448-52. doi: 10.1111/chd.12198. Epub 2014 Jun 25.

Authors

My-Linh D Ngo¹, Avichal Aggarwal, Jarrod D Knudson

Affiliation

¹ Department of Pediatrics, Children's Heart Center, University of Mississippi Medical Center, Jackson, Miss, USA.

PMID: 24965779
DOI: 10.1111/chd.12198

Abstract

Peripheral pulmonary artery stenosis is a common congenital heart lesion associated with several genetic syndromes. We have reviewed the genetics of the lesion and present an unusual case of peripheral pulmonary stenosis involving a newly reported genetic deletion on chromosome 16. Further studies will be needed to confirm association of this genotype and phenotype.

Keywords: Congenital Heart Disease; Genetic Deletions; Pulmonary Stenosis.

Publication types

Case Reports
Review

MeSH terms

Cardiac Catheterization
Cardiac Surgical Procedures
Child, Preschool
Chromosomes, Human, Pair 15*
Constriction, Pathologic
Endovascular Procedures
Gene Deletion*
Genetic Predisposition to Disease
Heart Defects, Congenital / diagnosis
Heart Defects, Congenital / genetics*
Heart Defects, Congenital / therapy
Humans
Infant
Infant, Newborn
Male
Phenotype
Pulmonary Artery / abnormalities*
Pulmonary Artery / diagnostic imaging
Pulmonary Artery / surgery
Risk Factors
Tomography, X-Ray Computed
Treatment Outcome
Vascular Surgical Procedures