Congenital deaf-mutism, functional heart disease with prolongation of the QT interval, and sudden death

A Jervell, F Lange-Nielsen - American heart journal, 1957 - Elsevier
A Jervell, F Lange-Nielsen
American heart journal, 1957Elsevier
Four cases of deaf-mutism combined with a peculiar heart disease have been observed in
one family. The parents and 2 other children were healthy and had normal hearing. The deaf-
mute children all suffered attacks of fainting, probably Adams-Stokes seizures caused by
standstill of the heart. The first attack occurred between the ages of 3 and 5 years, and 3 of
the children died in such attacks at the ages of 4, 5, and 9 years, respectively.
Electrocardiographic studies in 3 of the cases revealed a marked prolongation of the QT …
Abstract
Four cases of deaf-mutism combined with a peculiar heart disease have been observed in one family. The parents and 2 other children were healthy and had normal hearing. The deaf-mute children all suffered attacks of fainting, probably Adams-Stokes seizures caused by standstill of the heart. The first attack occurred between the ages of 3 and 5 years, and 3 of the children died in such attacks at the ages of 4, 5, and 9 years, respectively.
Electrocardiographic studies in 3 of the cases revealed a marked prolongation of the Q-T interval. However, no clinical or roentgenologic evidence of organic heart disease was disclosed.
Autopsy was performed in one of the children. No gross abnormality of the heart was revealed, and the microscopic appearance of the heart muscle was normal. In this case a further prolongation of the Q-T interval followed exercise and quinidine medication, while a shortening was observed after atropine and particularly after digitalis medication. Following effort and quinidine medication, changes in the T waves were observed, also. The mechanical systole, evaluated by phonocardiography, was not correspondingly lengthened.
None of the known causes of prolongation of the Q-T interval could be demonstrated. The blood levels for calcium, phosphorus, and potassium were all normal, as were also the basal metabolic rate and the glucose tolerance test. The condition is considered to be due to a congenital disorder of the myocardial metabolism, caused by some enzymatic deficiency.
The unusual clinical symptoms, the exceptional electrocardiographic findings, and the serious outcome of the illness, together, represent a characteristic syndrome which to our knowledge has not been described before.
The disorder may be in some cases a possible cause of inexplicable death in children.
Elsevier