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Apparently, balanced chromosomal rearrangements usually have no phenotypic consequences for the carrier. However, in some cases, they may be associated with an abnormal phenotype. We report herein the case of a 4-year-old boy presenting with clinically isolated supravalvular aortic stenosis (SVAS). No chromosomal imbalance was detected by array CGH. The karyotype showed a balanced paracentric chromosome 7 inversion. Breakpoint characterization using paired-end whole-genome sequencing (WGS) revealed an ELN gene disruption in intron 1, accounting for the phenotype. Family study showed that the inversion was inherited, with incomplete penetrance. To our knowledge, this is the first case of a disruption of the ELNgene characterized by WGS. It contributes to refine the genotype-phenotype correlation in ELNdisruption. Although this disruption is a rare etiology of SVAS, it cannot be detected by the diagnostic tests usually performed, such as array CGH or sequencing methods (Sanger, panel, or exome sequencing). With the future perspective of WGS as a diagnostic tool, it will be important to include a structural variation analysis in order to detect balanced rearrangements and gene disruption.

Persistent left superior vena cava is the most common congenital anomaly of the thoracic venous system. In most cases, the left vena cava drains into the coronary sinus and remains asymptomatic. When draining in the left atrium, paradoxical embolization could be a severe complication of the right-to-left shunt and is an indication for surgery. We describe the thoracoscopic approach for ligation of a persistent left superior vena cava in a 9 years old girl with VACTERL association and a history of stroke. Bilateral superior vena cava connected by a bridging vein allowed simple ligature of the abnormal systemic venous return.