Aortic stenosis in hypoplastic right heart syndrome, associated with interstitial deletion of chromosome 2. uri icon

Overview

abstract

  • This report describes a rare case of moderate to severe valvular aortic stenosis in the setting of severe tricuspid stenosis, pulmonary atresia with intact interventricular septum and right ventricular dependent coronary circulation. We discuss the clinical, hemodynamic, echocardiographic and angiocardiographic findings on this rare case and comment on accompanied malformations, with its possible association observed to the interstitial deletion of band q22 or q24 of the long arm of chromosome 2.

publication date

  • December 19, 1997

Research

keywords

  • Abnormalities, Multiple
  • Aortic Valve Stenosis
  • Chromosome Deletion
  • Chromosomes, Human, Pair 2
  • Heart Defects, Congenital

Identity

Scopus Document Identifier

  • 0031578782

Digital Object Identifier (DOI)

  • 10.1016/s0167-5273(97)00255-6

PubMed ID

  • 9476678

Additional Document Info

volume

  • 62

issue

  • 3