In the clinical cohort, two candidate genes with observed de novo mutations from our primary analysis — JARID2 and SMURF1 — both had individual LOF carriers with CVM (Table 2), aortic and pulmonic stenosis with JARID2 and dextrocardia with SMURF1. A missense mutation in JARID2 was recently reported to segregate with BAV and a dilated aorta in a single family with LSLs [39]. The gene discussed is JARID2; the disease is Pulmonic stenosis.