The disease is a variant of the familial long QT syndrome with an earlier onset and a more severe course.
Synonyms are: cardio-auditory syndrome; Surdicardial Syndrome; QT interval, prolonged - hearing loss; Jervell and Lange Nielsen Syndrome
The name refers to the authors of the first description from 1957 by the Norwegian internists Anton Jervell and Fred Lange-Nielsen. They had described a family of eight in Norway with four children who were deaf. Members of the family attracted attention because of repeated attacks of dizziness and loss of consciousness and showed a marked prolongation of the QT interval on the ECG. Three of these children died of sudden cardiac death .
The frequency is given as 1 - 9 in 100,000, inheritance is autosomal - recessive . About seven percent of the congenital long QT syndromes are attributed to the JLNS, about 0.25 percent of all children with hearing loss suffer from this disease. A variant with autosomal dominant inheritance is known as Romano-Ward syndrome .
Depending on the underlying mutation , the following types can be distinguished:
- Type 1 with mutations in KCNQ1 - gene on chromosome 11 locus p15.5-p.15.4 basis.
- Type with mutations in the KCNE1 gene on chromosome 21 at q22.12.
Clinical criteria are:
- Congenital inner ear hearing loss on both sides
- syncopal seizures during stress , exertion or cold
- often considerable QT prolongation (> 500 ms) with tachyarrhythmias (ventricular tachycardia, torsades de pointes and ventricular fibrillation )
- Onset of illness in almost half within the first three years of life
Other forms of sensorineural hearing loss , Romano-Ward syndrome and other forms of QT syndrome, electrolyte disturbances , orthostatic dysregulation , vasovagal syncope or drug-induced prolongation of the QT time are to be distinguished.
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- Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- Jervell-Lange-Nielsen syndrome. In: Orphanet (Rare Disease Database).
- A. Jervell, F. Lange-Nielsen: Congenital deaf-mutism, functional heart disease with prolongation of the QT interval and sudden death. In: American Heart Journal . Vol. 54, No. 1, July 1957, pp. 59-68, PMID 13435203 .
- Jervell and Lange-Nielsen syndrome. In: Online Mendelian Inheritance in Man . (English)
- Jervell and Lange-Nielsen syndrome 2. In: Online Mendelian Inheritance in Man . (English)
- SJ Broomfield, IA Bruce, L. Henderson, KM Green, RT Ramsden: Cochlear implantation in Jervell & Lange-Nielsen syndrome: a cautionary report. In: Cochlear implants international. Vol. 11 Suppl 1, June 2010, pp. 163-165, doi: 10.1179 / 146701010X12671177818506 , PMID 21756604 .