Cardio-auditory syndromes. Cardiac and genetic study of 511 deaf-mute children.

In 1957 Jervell and Lange-Nielsen described a Norwegian family, with 4 sibs who all had deafmutism, an extraordinarily long Q-T interval, and fainting attacks. Levine and Woodworth described a new case in 1958. Fraser and colleagues (Fraser, Froggatt, and James, 1964a; Fraser, Froggatt, and Murphy, 1964b; Friedmann, Fraser, and Froggatt, 1966) carried out a survey in the U.K. of almost 1500 deaf-mute children, and discovered 9 more cases; with this British study it seemed clear that there was a recessive type of inheritance. Three more cases have been reported from Norway (Jervell, Thingstad, and Endsj6, 1966) and one from the U.S.A. (Lisker and Finkelstein, 1966). No cases were found in a survey of 369 deaf-mute children from Detroit (James, 1967) nor in another of 211 children from Rome (Puletti, Jacobellis, and Borghi, 1967). On the other hand, several families have been described (Romano, Gemme, and Pongiglione, 1963; Ward, 1964; Barlow, Bosman, and Cochrane, 1964) in which a dominant pattern of inheritance seems to account for a syndrome of a long Q-T interval plus fainting attacks-possibly due to ventricular fibrillation-but without deaf-mutism. In 1958, Lewis et al. reported a family with associated deaf-mutism and congenital heart disease. This family was described again by Koroxenidis et al. in 1966, and it seems clear that the mother and 4 of her 8 children had pulmonary stenosis, either valvular, infundibular, or both; 2 of the affected children were deaf-mute, both also having an atrial septal defect, and one of them an obstructive subaortic stenosis and mitral incompetence. Though the association of deaf-mutism and congenital heart disease could be coincidental, in theory a second (Lewis) cardio-auditory syndrome