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

摘要: Interstitial deletion of chromosome 8p23.1 has been reported in patients with congenital heart defects, including atrial and ventricular septal pulmonary stenosis, complex cyanotic defects. GATA4, a zinc-finger transcription factor gene, localized to this region. GATA4 interacts additional factors the embryogenesis primitive tube. Mutations are thought be responsible for defects association chromosomal deletion, several familial point mutations leading amino acid substitutions have also identified. Left noncompaction (LVNC) is clinically heterogeneous disorder characterized by LV myocardial trabeculations intertrabecular recesses that communicate cavity. Patients may asymptomatic or present evidence severely depressed systolic diastolic function. The dilated hypertrophied, clinical expression undulating. Several genetic causes LVNC reported, variable modes inheritance, autosomal dominant X-linked but relatively few genes A 12-year-old boy history acute lymphoblastic leukemia, dysmorphic features, preserved function was referred Cardiovascular Genetics Clinic at our institution. patient terms cardiovascular Chromosome microarray testing revealed an interstitial region containing GATA4. not previously deletion. Further investigation into role warranted. © 2011 Wiley-Liss, Inc.