Jervell and Lange-Nielsen syndrome

Description

Congenital (autosomal recessive) long QT syndrome (LQTS)

  • *Associated with severe, bilateral sensorineural hearing loss.
  • Two genetic mutations identified encoding cardiac potassium channels.
  • Due to high risk of sudden cardiac death ICD implantation is usually required

Long QT Syndrome History

1856 – Friedrich Ludwig Meissner a German obstetrician and paediatrician described the sudden death of deaf girl. The young girl collapsed and died while being publicly admonished at school. The parents were not surprised, having lost 2 other ‘deaf-mute’ children under similar circumstances of fright and rage [Meissner, 1856 pp119-120]

1901 – Morquio described a Uruguayan family in which five of eight siblings suffered frequent ‘syncopal’ episodes. Four of these children died. No ECG’s were available and deafness was never mentioned. However, the children were described as apathetic, reserved, unsociable and distrustful: epithets deemed to cloak a degree of undetected hearing loss [Morquio, 1901 pp467-475]

1953 – Herrlin and Möller describe a case of recurrent cardiac syncope in a young boy suffering deafness. They record the ECG and note negative T-deflections in all leads; arched ST-waves; and a prolonged QT-time.

Herrlin and Möller describe first association between syncope, deafness and LQTS
Herrlin Moller 1953 JLNS

1957 – Norwegian Professor of Cardiology, Anton Jervell (1901-1987) with his colleague and jazz virtuoso Fred Lange-Nielsen (1919-1989) describe an autosomal recessive syndrome of long-QT interval with deafness and sudden death

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..’

1958Samuel Albert Levine (1891-1966) described a similar case involving a young boy who had been observed since 1949 with deaf-mutism, syncopal episodes and sudden death at the age of 13. [Levine, 1958]

1964 – Fraser suggested that heterozygous family members of persons with JLNS may show slight or moderate prolongation of the QT interval

1979 – International Long-QT Syndrome Registry was initiated to collect data on any patient with LQTS

2001 – Advances in research with paper by Schwrartz et al: Life-threatening arrhythmias in LQTS patients tend to occur under specific circumstances in a gene-specific manner.

2005 – 25th Anniversary International LQTS Registry collating clinical discoveries from the past 25 years and setting ongoing aims for future research in this challenging field: ‘Our quest for uncovering the secrets of LQTS continues‘ [PMID 15753228]


Associated Persons


Alternative names

  • Jervell-Lange-Nielsen syndrome (JLNS)
  • Autosomal recessive long QT syndrome (LQTS)
  • Cardioauditory syndrome

References


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the names behind the name

Emergency physician MA (Oxon) MBChB (Edin) FACEM FFSEM with a passion for rugby; medical history; medical education; and informatics. Asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | vocortex |

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