TBX1 variant as a cause of non-syndromic familial vascular ring

•Familial occurrence of vascular rings has not been described outside of 22q11 deletion syndrome.•This study provides the first description of a genetic etiology of non-syndromic vascular rings.•At present there are no recommendations for routine screening of relatives with vascular rings.•Evaluation of relatives of individuals with unusual vascular rings should be considered.