title: Syndromic non-compaction of the left ventricle: associated chromosomal anomalies.
abstract: Non-compaction of the left ventricle (NCLV) is a cardiomyopathy characterized by prominent left ventricular trabeculae and deep intertrabecular recesses. Associated extracardiac anomalies occur in 14-66% of patients of different series, while chromosomal anomalies were reported in sporadic cases. We investigated the prevalence of chromosomal imbalances in 25 syndromic patients with NCLV, using standard cytogenetic, subtelomeric fluorescent in situ hybridization, and array-comparative genomic hybridization (CGH) analyses. Standard chromosome analysis disclosed an abnormality in three (12%) patients, including a 45,X/46,XX mosaic, a 45,X/46,X,i(Y)(p11) mosaic, and a de novo Robertsonian 13;14 translocation in a child affected by hypomelanosis of Ito. Cryptic chromosome anomalies were found in six (24%) cases, including 1p36 deletion in two patients, 7p14.3p14.1 deletion, 18p subtelomeric deletion, 22q11.2 deletion associated with velo-cardio-facial syndrome, and distal 22q11.2 deletion, each in one case. These results recommend accurate clinical evaluation of patients with NCLV, and suggest that chromosome anomalies occur in about one third of syndromic NCLV individuals, without metabolic/neuromuscular disorder. Array-CGH analysis should be included in the diagnostic protocol of these patients, because different submicroscopic imbalances are causally associated with this disorder and can pinpoint candidate genes for this cardiomyopathy.
authors.affiliation: Medical Genetics, Cytogenetics, Pediatric Cardiology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: M C
authors.initials: MC
authors.lastname: Digilio
authors.forename: L
authors.initials: L
authors.lastname: Bernardini
authors.forename: M G
authors.initials: MG
authors.lastname: Gagliardi
authors.forename: P
authors.initials: P
authors.lastname: Versacci
authors.forename: A
authors.initials: A
authors.lastname: Baban
authors.forename: R
authors.initials: R
authors.lastname: Capolino
authors.forename: M L
authors.initials: ML
authors.lastname: Dentici
authors.forename: M C
authors.initials: MC
authors.lastname: Roberti
authors.forename: A
authors.initials: A
authors.lastname: Angioni
authors.forename: A
authors.initials: A
authors.lastname: Novelli
authors.forename: B
authors.initials: B
authors.lastname: Marino
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000293:Adolescent; D000328:Adult; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization; D015150:Echocardiography, Doppler; D004562:Electrocardiography; D005260:Female; D006352:Heart Ventricles / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D059785:Karyotype; D008297:Male; D013577:Syndrome; D055815:Young Adult