Congenital Deaf‐mutism, Functional Heart Disease With Prolongation of the Q‐t Interval, and Sudden Death

Abstract

COMBINATION of deaf-mutism and a peculiar heart disease has been A observed in 4 children in a family of 6. The parents were not related, and were, as the other 2 children, quite healthy and had normal hearing.The deaf-mute children, who otherwise seemed quite healthy, suffered from "fainting attacks'' occurring from the age of 3 t o 5 years. By clinical and roeiitgen examination, which was performed in 3 of the children, no signs of heart disease could be discovered. The electrocardiograms, however, revealed a pronounced prolongation of the Q-T interval in all cases.Three of the deaf-mute children died suddenly a t the ages of 4, 5 , and 9 years, respectively. CASE REPORTSCase 1. Tormod J., born 1944-This boy had suffered from repeated "fainting attacks" since the age of 3 years. The attacks occurred a t intervals of up to 6 months, and they never lasted for more than 2 to 3 minutes. The attacks usually occurred following efforts. His relatives stated that the attacks were associated partly with pallor and partly with cyanosis, but never with convulsions or biting of the tongue. Involuntary emptying of the bladder, howe\er, had been observed. Occasionally the boy had complained of palpitations and precordial pains.In July, 1953, he was examined at Aust-Agder and Arendal Central Hospital (Dr. Kloster). The only pathologic finding was a prolongation of the Q-T interval in the electrocardiogram.On the assumption that he might be suffering from epilepsy, the patient was treated with barbiturates and phenantoin, without effect, however.Since 1952, the boy attended a boarding school for deaf-mute children. On Oct. 10, 1953, he suddenly fainted without apparent cause. He remained unconscious for about 5 minutes with cyanosis of the face and with convulsive movements of the fingers. Afterwards he was somewhat exhausted, but after a few hours in bed, he was just as lively as usual and wanted to go out playing.The boy was admitted to the Medical Department of Vestfold Central Hospital where he was observed from Oct. 13, to Nov. 10, 1953. Apart from the deaf-mutism, no evidence of congenital defects could be discovered. He had a healthy appearance. Height: 142.5 cm.; weight 34.6 kilograms. His deaf-mutism to some extent prevented adequate contact, but he appeared normally developed and was cooperative when examined.The pulse was 72, with regular rhythm, blood pressure 100/60 mm. Hg. The temperature was normal and there was no cyanosis or congestion. A weak systolic murmur (Grade 1) was heard in the second left intercostal space.The physical examination revealed no essential abnormality.Neurological examination revealed nothing abnormal. w e k after his cliscli;irge, hr h:id ;inother attack. Hc suddenly bcc'amc pale and fell iincoiisvioiis. On the (lortor's arrival the pat icwt was pulseless with cold skin and with inarkrtl cyinosis. I7c \\':IS t;ikrn t o t.hr hospital ;is soon as possiblc, but on arrival hc presented t1efiiiit.c siaiis o f tlr;itli with ninrltcti hypost asis. 'I'hcre wiis no frothy discharge from the nose ...

Short QT Syndrome

“…2-4,9 -11 The first clinical entity with the combination of an ECG abnormality in the absence of structural heart disease with an increased risk for sudden death was the congenital long QT syndrome (LQTS). [1][2][3] Soon after the first description of the LQTS, the presence of a genetic substrate encoding defective ion channel proteins could be confirmed with the development of DNA mapping techniques. 10 -12 However, even today, only up to 60% to 70% of patients with LQTS have a genetic defect confirmed at extensive screening.…”

“…The vast majority of patients present with a manifest structural cardiac disease; however, in a small percentage of patients, an underlying cardiac abnormality cannot be identified and ventricular fibrillation is termed "idiopathic." Some syndromes have been described in recent years [1][2][3][4][5] and limited the cases of unexplained ventricular fibrillation. Even if sudden death in the absence of heart disease is a rare event, its clinical impact is high because it often occurs in young and otherwise healthy subjects.…”

KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death

“…Patients are susceptible to torsade de pointes and ventricular fibrillation, leading to syncopal episodes and sudden death (1)(2)(3). It is the prototype of the expanding list of cardiac ion channelopathies.…”

Pharmacological approach to the treatment of long and short QT syndromes

“…It was first described clinically and electrocardiographically in 1957 by Jervell as a familial trait with congenital deafness associated with unusually long QT intervals and high incidence of sudden cardiac death. This autosomal recessive syndrome is referred to as Jervell-Lange-Nielsen Syndrome (JLN) (Jervell & Lange-Nielsen, 1957). In 1964, Romano and Wards reported a similar but more common variant of LQTS without congenital deafness-a syndrome called Romano-Ward syndrome (Romano et al, 1963).…”

“…Since it initial description in 1957 by Jervell (Jervell & Lange-Nielsen, 1957), a great deal of progress has been achieved in elucidating the genetic and molecular basis for arrhythmogenesis in LQTS. Thus far, mutations in 10 different genes have been identified and the disease has shown strong genotype-phenotype correlation.…”