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

摘要: Non-compaction of the left ventricle (NCLV) is a cardiomyopathy characterized by prominent ventricular trabeculae and deep intertrabecular recesses. Associated extracardiac anomalies occur in 14–66% patients different series, while chromosomal were reported sporadic cases. We investigated prevalence imbalances 25 syndromic with NCLV, using standard cytogenetic, subtelomeric fluorescent situ hybridization, array-comparative genomic hybridization (CGH) analyses. Standard chromosome analysis disclosed an abnormality three (12%) patients, including 45,X/46,XX mosaic, 45,X/46,X,i(Y)(p11) de novo Robertsonian 13;14 translocation child affected hypomelanosis Ito. Cryptic found six (24%) cases, 1p36 deletion two 7p14.3p14.1 deletion, 18p 22q11.2 associated velo-cardio-facial syndrome, distal each one case. These results recommend accurate clinical evaluation suggest that about third NCLV individuals, without metabolic/neuromuscular disorder. Array-CGH should be included diagnostic protocol these because submicroscopic are causally this disorder can pinpoint candidate genes for cardiomyopathy.