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Syndromic non-compaction of the left ventricle: associated chromosomal anomalies

M C Digilio1, L Bernardini, M G Gagliardi

  • 1Medical Genetics, Cytogenetics, Pediatric Cardiology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Clinical Genetics
|December 6, 2012
PubMed

Insights

Chromosomal anomalies are found in about one third of syndromic non-compaction of the left ventricle (NCLV) patients. Array-CGH analysis is recommended for diagnosing NCLV and identifying associated genetic causes.

Area of Science:

  • Genetics
  • Cardiology
  • Medical Diagnostics

Background:

  • Non-compaction of the left ventricle (NCLV) is a cardiomyopathy marked by prominent trabeculae and deep recesses.
  • Extracardiac and chromosomal anomalies are occasionally associated with NCLV, but their prevalence in syndromic cases requires further investigation.

Purpose of the Study:

  • To determine the prevalence of chromosomal imbalances in syndromic patients with NCLV.
  • To evaluate the utility of advanced cytogenetic techniques, including array-comparative genomic hybridization (array-CGH), in diagnosing NCLV.

Main Methods:

  • Utilized standard cytogenetics, subtelomeric fluorescent in situ hybridization, and array-CGH.
  • Analyzed 25 syndromic patients diagnosed with NCLV.

Main Results:

  • Standard chromosome analysis identified abnormalities in 12% of patients.
  • Cryptic chromosomal anomalies were detected in 24% of cases using subtelomeric FISH and array-CGH, including deletions in 1p36, 7p14.3p14.1, 18p, and 22q11.2.
  • Overall, approximately one-third of syndromic NCLV patients exhibited chromosomal anomalies.

Conclusions:

  • Chromosomal anomalies are common in syndromic NCLV, occurring in about one-third of individuals without metabolic/neuromuscular disorders.
  • Array-CGH analysis is crucial for the diagnostic protocol of NCLV patients to identify submicroscopic imbalances and potential candidate genes.

Keywords:
1p36 deletion22q11.2 deletioncardiomyopathychromosomal anomalynon-compaction left ventricle

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