Left-ventricular non-compaction (LVNC): a clinical feature more often observed in terminal deletion 1p36 than previously expected.
Deletion of 1p36 (OMIM 607872) is estimated to be the most common distal terminal deletion syndrome. We describe a previously unreported, typically affected two-month-old girl with this microdeletion syndrome, who additionally suffers from left-ventricular non-compaction (LVNC). Recently, this congenital heart defect, characterized by prominent left-ventricular trabeculae and deep intertrabecular recesses, was reported in 12 further patients (excluding those reported only in abstract form) with terminal deletion of 1p36, leading to the conclusion that this cardiomyopathy is common in patients with this chromosomal aberration. We hypothesize that a gene in 1p36 might be responsible for LVNC.
Cremer
Kirsten
K
Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany. kirsten.cremer@uni-due.de
Lüdecke
Hermann-Josef
HJ
Ruhr
Frauke
F
Wieczorek
Dagmar
D
D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D005260:Female; D006352:Heart Ventricles / Q000473:pathology*; D006801:Humans; D007223:Infant