Left ventricular non-compaction on MRI in a patient with 22q11.2 distal deletion.
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.
Madan
Shobhit
S
Department of Radiology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA.
Madan-Khetarpal
Suneeta
S
Park
Sang C
SC
Surti
Urvashi
U
Bailey
Ariel L
AL
McConnell
Juliann
J
Tadros
Sameh S
SS
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