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 journalArticle

5 Citations (Scopus)

Abstract

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
Volume167
Issue number3
DOIs
Publication statusPublished - Mar 1 2015

Fingerprint

Hypoplastic Left Heart Syndrome
Aortic Coarctation
Congenital Heart Defects
Aortic Valve Stenosis
Fluorescence In Situ Hybridization
Newborn Infant

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Hypoplastic left heart syndrome and 21q22.3 deletion. / Ciocca, Laura; Digilio, M. Cristina; Lombardo, Antonietta; D'Elia, Gemma; Baban, Anwar; Capolino, Rossella; Petrocchi, Stefano; Russo, Serena; Sirleto, Pietro; Roberti, M. Cristina; Marino, Bruno; Angioni, Adriano; Dallapiccola, Bruno.

In: American Journal of Medical Genetics, Part A, Vol. 167, No. 3, 01.03.2015, p. 579-586.

Research output: Contribution to journalArticle

Ciocca, Laura ; Digilio, M. Cristina ; Lombardo, Antonietta ; D'Elia, Gemma ; Baban, Anwar ; Capolino, Rossella ; Petrocchi, Stefano ; Russo, Serena ; Sirleto, Pietro ; Roberti, M. Cristina ; Marino, Bruno ; Angioni, Adriano ; Dallapiccola, Bruno. / Hypoplastic left heart syndrome and 21q22.3 deletion. In: American Journal of Medical Genetics, Part A. 2015 ; Vol. 167, No. 3. pp. 579-586.
@article{0829c8a0802e4a17be507f783d7b25ad,
title = "Hypoplastic left heart syndrome and 21q22.3 deletion",
abstract = "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.",
keywords = "Chromosome 21, Congenital heart defect, Deletion, Hypoplastic left heart",
author = "Laura Ciocca and Digilio, {M. Cristina} and Antonietta Lombardo and Gemma D'Elia and Anwar Baban and Rossella Capolino and Stefano Petrocchi and Serena Russo and Pietro Sirleto and Roberti, {M. Cristina} and Bruno Marino and Adriano Angioni and Bruno Dallapiccola",
year = "2015",
month = "3",
day = "1",
doi = "10.1002/ajmg.a.36914",
language = "English",
volume = "167",
pages = "579--586",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "3",

}

TY - JOUR

T1 - Hypoplastic left heart syndrome and 21q22.3 deletion

AU - Ciocca, Laura

AU - Digilio, M. Cristina

AU - Lombardo, Antonietta

AU - D'Elia, Gemma

AU - Baban, Anwar

AU - Capolino, Rossella

AU - Petrocchi, Stefano

AU - Russo, Serena

AU - Sirleto, Pietro

AU - Roberti, M. Cristina

AU - Marino, Bruno

AU - Angioni, Adriano

AU - Dallapiccola, Bruno

PY - 2015/3/1

Y1 - 2015/3/1

N2 - 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.

AB - 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.

KW - Chromosome 21

KW - Congenital heart defect

KW - Deletion

KW - Hypoplastic left heart

UR - http://www.scopus.com/inward/record.url?scp=84923005238&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84923005238&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.36914

DO - 10.1002/ajmg.a.36914

M3 - Article

VL - 167

SP - 579

EP - 586

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 3

ER -