Key result
CMR identifies first reported case of left ventricular non-compaction in 22q11.2 distal deletion.
Why the study?
Left ventricular non-compaction (LVNC) has not previously been reported in patients with 22q11.2 distal deletion syndrome.
Case Report (n=1)
May warrant LVNC consideration in 22q11.2 distal deletion; leaves open confirmation and screening implications.
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.
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Madan et al. (2010) conducted a case report in 22q11.2 distal deletion and left ventricular non-compaction (n=1). 22q11.2 distal deletion was evaluated on Detection of left ventricular non-compaction (LVNC). Cardiac magnetic resonance imaging identified left ventricular non-compaction in a patient with 22q11.2 distal deletion, marking the first reported case of this association.
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