Left-ventricular non-compaction in a patient with monosomy 1p36.
We report on a new-born girl with left ventricular non-compaction (LVNC), dysmorphism and epilepsy. Array-CGH at 1 Mb resolution revealed a deletion of the terminal 4.6 to 5.9 Mb of the short arm of chromosome 1. Cardiac abnormalities such as dilated cardiomyopathy and structural cardiac defects are common findings in patients with monosomy 1p36. This is however the first report describing LVNC in association with the 1p36 deletion syndrome, broadening the spectrum of cardiac anomalies found in association with this syndrome.
Thienpont
Bernard
B
Center for Human Genetics, Catholic University of Leuven, Herestraat 49, Leuven, Belgium.
Mertens
Luc
L
Buyse
Gunnar
G
Vermeesch
Joris R
JR
Devriendt
Koen
K
D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D004827:Epilepsy / Q000150:complications / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics*; D006352:Heart Ventricles / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome; D014463:Ultrasonography