Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion

Joshua J. Blinder, Hugo Martinez, William J. Craigen, John Belmont, Ricardo H. Pignatelli, John Jefferies

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Interstitial deletion of chromosome 8p23.1 has been reported in patients with congenital heart defects, including atrial and ventricular septal defects, pulmonary stenosis, and complex cyanotic heart defects. GATA4, a zinc-finger transcription factor gene, has been localized to this region. GATA4 interacts with additional transcription factors in the embryogenesis of the primitive heart tube. Mutations in GATA4 are thought to be responsible for the congenital heart defects reported in association with this chromosomal deletion, and several familial point mutations leading to amino acid substitutions have also been identified. Left ventricular noncompaction (LVNC) is a clinically heterogeneous disorder characterized by LV myocardial trabeculations and intertrabecular recesses that communicate with the LV cavity. Patients may be asymptomatic or may present with evidence of severely depressed LV systolic and diastolic function. The LV may be dilated or hypertrophied, and clinical expression may be undulating. Several genetic causes of LVNC have been reported, with variable modes of inheritance, including autosomal dominant and X-linked inheritance, but relatively few responsible genes have been identified. A 12-year-old boy with a history of acute lymphoblastic leukemia, dysmorphic features, and LVNC with preserved LV systolic function was referred to the Cardiovascular Genetics Clinic at our institution. The patient was asymptomatic in terms of cardiovascular function. Chromosome microarray testing revealed an interstitial deletion in the region of 8p23.1 containing GATA4. LVNC has not been reported previously in association with this chromosome deletion. Further investigation into the role of GATA4 in patients with LVNC is warranted.

Original languageEnglish (US)
Pages (from-to)2215-2220
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number9
DOIs
StatePublished - Sep 1 2011
Externally publishedYes

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Chromosome Deletion
Myocardium
Congenital Heart Defects
Transcription Factors
X-Linked Genes
Pulmonary Valve Stenosis
Atrial Heart Septal Defects
Ventricular Heart Septal Defects
Zinc Fingers
Amino Acid Substitution
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Point Mutation
Genes
Embryonic Development
Chromosomes
Mutation

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Genetics

Cite this

Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion. / Blinder, Joshua J.; Martinez, Hugo; Craigen, William J.; Belmont, John; Pignatelli, Ricardo H.; Jefferies, John.

In: American Journal of Medical Genetics, Part A, Vol. 155, No. 9, 01.09.2011, p. 2215-2220.

Research output: Contribution to journalArticle

Blinder, Joshua J. ; Martinez, Hugo ; Craigen, William J. ; Belmont, John ; Pignatelli, Ricardo H. ; Jefferies, John. / Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion. In: American Journal of Medical Genetics, Part A. 2011 ; Vol. 155, No. 9. pp. 2215-2220.
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