Hypoplastic left heart syndrome and 21q22.3 deletion

Laura Ciocca, M. Cristina Digilio, Antonietta Lombardo, Gemma D'Elia, Anwar Baban, Rossella Capolino, Stefano Petrocchi, Serena Russo, Pietro Sirleto, M. Cristina Roberti, Bruno Marino, Adriano Angioni, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review


Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect (CHD), associated with extracardiac anomalies in the 15-28% of cases, in the setting of chromosomal anomalies, mendelian disorders, and organ defects. We report on a syndromic female newborn with HLHS and terminal 21q22.3 deletion (del 21q22.3), investigated by Fluorescence In Situ Hybridization (FISH) using a panel of 26 contiguous BAC probes. Although rare, del 21q22.3 has been described in two additional patients with HLHS. In order to investigate the frequency and role of this chromosomal imbalance in the pathogenesis of left-sided obstructive heart defects, we screened for del 21q22.3 a series of syndromic and non-syndromic children with HLHS, aortic coarctation and valvular aortic stenosis, consecutively admitted to our hospital in a three-year period. Although none of the 56 analyzed patients were hemizygous for this region, the present case report and published patients argue that del 21q22 should be added to the list of chromosomal imbalances associated with HLHS. Accordingly, the presence of a cardiac locus mapping in the critical region cannot be excluded.

Original languageEnglish
Pages (from-to)579-586
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Issue number3
Publication statusPublished - Mar 1 2015


  • Chromosome 21
  • Congenital heart defect
  • Deletion
  • Hypoplastic left heart

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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