To determine whether HMX1-ECR CNVs associate with other ear malformations, we performed qPCR assays in the 600 bp HMX1-ECR in 53 patients with unilateral lobule-type microtia, six patients with isolated bilateral lobule-type microtia, one patient with bilateral concha-type microtia with preauricular sinus, and one patient with bilateral concha-type microtia with atrial septal defect. This evidence concerns the gene HMX1 and atrial septal defect.