[Valvular insufficiency in Lobstein's disease. A review of the literature apropos of a patient operated on for aortic insufficiency]. / Insuffisance valvulaire dans la maladie de Lobstein. Revue de la littérature à propos d'un cas d'insuffisance aortique opérée.

Lobstein's disease, a hereditary disorder of connective tissue, may rarely be accompanied by aortic or mitral regurgitation due to valvular dystrophy. The case reported is that of a patient with severe aortic incompetence with dilatation of the ascending aorta, complicated by angina pectoris and left ventricular failure; the patient also had Lobstein's disease with numerous spontaneous fractures, transverse lines of ossification, blue sclera skeletal deformities, and a positive family history of blue sclera. At surgery, valvular dystrophy was confirmed and corrected by aortic valve replacement. The patient's brother died recently with the same pathological association of Lobstein's disease and aortic incompetence. 28 cases of valvular disease and Lobstein's disease have been reported 12 with pathological evidence (at operation) on the purely dystrophic origin of the valvular regurgitation, and 2 with histological diagnoses alone in two newly born children. Aortic incompetence with dilatation of the ascending aorta is commoner than mitral incompetence. The macroscopical and histological appearances are similar to Marfan's syndrome and account for the operative risk of valvular replacement and for the incidence of postoperative haemorrhage. The rarity of valvular dysfunction in Lobstein disease contrasts with its relatively common occurrence in Marfan's syndrome.