Full monosomy 21: Echocardiographic findings in the third molecularly confirmed case

D. Fisher, A. Dipietro, Kenneth A Murdison, C. A. Lemieux

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Monosomy 21 is a rare chromosomal abnormality, with only nine cases reported in the literature. Affected infants display multiple dysmorphic features as well as skeletal, ocular, pulmonary, cardiac, renal, and genitourinary abnormalities. All monosomies are lethal except monosomy 21, but not all monosomy 21 fetuses survive to term. This report describes the echocardiographic findings and the congenital heart defects associated with the third case of molecularly confirmed full monosomy 21 in the literature. The cardiac defects included a mildly hypoplastic and hypertrophied left ventricle, a large ostium secundum atrial septal defect, a small anterior muscular ventricular septal defect, an interrupted inferior vena cava with azygos continuation, a parachute mitral valve, a bicuspid aortic valve, and a tortuous descending aorta. It also is the first description of a left pulmonary artery aneurysm and decreased left ventricular function as a component in the spectrum of defects found in full monosomy 21.

Original languageEnglish (US)
Pages (from-to)733-735
Number of pages3
JournalPediatric Cardiology
Volume34
Issue number3
DOIs
StatePublished - Mar 1 2013

Fingerprint

Urogenital Abnormalities
Monosomy
Atrial Heart Septal Defects
Congenital Heart Defects
Ventricular Heart Septal Defects
Inferior Vena Cava
Thoracic Aorta
Mitral Valve
Left Ventricular Function
Chromosome Aberrations
Pulmonary Artery
Heart Ventricles
Aneurysm
Fetus
Chromosome 21 monosomy
Kidney
Lung
Bicuspid Aortic Valve

Keywords

  • Cardiac
  • Echocardiography
  • Monosomy 21
  • Pulmonary artery dilation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Cardiology and Cardiovascular Medicine

Cite this

Full monosomy 21 : Echocardiographic findings in the third molecularly confirmed case. / Fisher, D.; Dipietro, A.; Murdison, Kenneth A; Lemieux, C. A.

In: Pediatric Cardiology, Vol. 34, No. 3, 01.03.2013, p. 733-735.

Research output: Contribution to journalArticle

Fisher, D. ; Dipietro, A. ; Murdison, Kenneth A ; Lemieux, C. A. / Full monosomy 21 : Echocardiographic findings in the third molecularly confirmed case. In: Pediatric Cardiology. 2013 ; Vol. 34, No. 3. pp. 733-735.
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