Left ventricular hypertrabeculation /noncompaction in 3-HMG coenzyme A lyase deficiency

The gene encoding for HMG-CoA lyase deficiency is located on chromosome 1p361. Since the most frequent of the chromosomal abnormalities associated with LVHT is the 1p36 deletion syndrome2. it would be interesting to know if this structural chromosomal aberration was excluded in the presented patient? This is particularly important in the light of the parents’ consanguinity and the presence of macrocephaly1. which has been reported in 1p36 deletion syndrome3.