title: Left ventricular non-compaction on MRI in a patient with 22q11.2 distal deletion.
abstract: We report on a 22-year-old male carrying a presumptive clinical diagnosis of Dubowitz-like phenotype who has been followed-up by cardiology for bicuspid aortic valve with ascending aorta and aortic root dilatation. Cardiac magnetic resonance imaging (CMRI) confirmed these findings, along with an incidental finding of left ventricular non-compaction (LVNC). Genetic workup revealed the diagnosis of 22q11.2 distal deletion encompassing the BCR gene. This is the first time LVNC has been reported in a patient with 22q11.2 distal deletion.
authors.affiliation: Department of Radiology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA.
authors.forename: Shobhit
authors.initials: S
authors.lastname: Madan
authors.forename: Suneeta
authors.initials: S
authors.lastname: Madan-Khetarpal
authors.forename: Sang C
authors.initials: SC
authors.lastname: Park
authors.forename: Urvashi
authors.initials: U
authors.lastname: Surti
authors.forename: Ariel L
authors.initials: AL
authors.lastname: Bailey
authors.forename: Juliann
authors.initials: J
authors.lastname: McConnell
authors.forename: Sameh S
authors.initials: SS
authors.lastname: Tadros
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D019066:Facies; D006330:Heart Defects, Congenital / Q000235:genetics*; D006352:Heart Ventricles / Q000002:abnormalities*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D055815:Young Adult