However, a retrospective study of 78 patients with ECD in France (60 men and 18 women) has found that hypoalphalipoproteinemia (HDL) and BRAFV600E mutation are major predictors of aortic infiltration in the ECD, and cardiovascular disease is detected in 84% of patients with ECD, thus suggesting that hypoalphalipoproteinemia in male ECD patients carrying the BRAFV600E mutation favors the formation of lipid-laden histiocytes, and the BRAF status and HDL phenotype are independent determinants of the aortic involvement in ECD [22]. The gene discussed is BRAF; the disease is familial atrioventricular septal defect.