Jervell-Lange-Nielsen Syndrome

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Classification according to ICD-10
I45.8 Other specified cardiac conduction disorders
ICD-10 online (WHO version 2019)

The Jervell-Lange-Nielsen syndrome (JLNS) is a very rare congenital disease with a combination of QT prolongation , ventricular tachyarrhythmia and congenital deafness .

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 .

distribution

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 .

root cause

Depending on the underlying mutation , the following types can be distinguished:

Clinical manifestations

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

Differential diagnosis

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.

therapy

Cochlear implants are available to treat hearing loss, but heart problems are more difficult to address with beta blockers and implantation of a cardioverter defibrillator .

literature

  • J. Kanovsky, T. Novotny, J. Kadlecova, R. Gaillyova: A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters. In: Heart rhythm. Vol. 7, No. 4, April 2010, pp. 531-533, doi: 10.1016 / j.hrthm.2009.11.034 , PMID 20138589 .
  • E. Schulze-Bahr, W. Haverkamp, ​​H. Wedekind, C. Rubie, M. Hördt, M. Borggrefe, G. Assmann, G. Breithardt, H. Funke: Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome ) is genetically heterogeneous. In: Human genetics. Vol. 100, No. 5-6, October 1997, pp. 573-576, PMID 9341873 .
  • K. Theisen, H. Jahrmärker: Re-entry mechanism of ventricular tachycardias with inhomogeneous repolarization. With special consideration of the Jervell-Lange-Nielsen syndrome and similar conditions and their therapy. In: German Medical Weekly . Vol. 100, No. 20, May 1975, pp. 1141-1147, doi: 10.1055 / s-0028-1106349 , PMID 1092539 (review).

Individual evidence

  1. ↑ a b 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 .
  2. ↑ a b c d e Jervell-Lange-Nielsen syndrome. In: Orphanet (Rare Disease Database).
  3. ↑ 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 .
  4. ↑ Jervell and Lange-Nielsen syndrome.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ Jervell and Lange-Nielsen syndrome 2.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ 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 .

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