The Surdo-Cardiac Syndrome

A, Jervell

doi:10.1093/eurheartj/6.suppl_d.97

Cited by 11 publications

(1 citation statement)

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“…Subsequently, Jervell and others reported the cases of five additional unrelated JLNS families from Norway [Jervell et al, 1966;Jervell and Sivertsen, 1967;Langslett and Sørland, 1975]. In 1964, Fraser et al, reported on six more families fulfilling the diagnostic Lisbeth Tranebjaerg, M.D., Ph.D., is professor of Medical Genetics at the University Hospital of Tromsø, Norway.…”

Section: Historical Perspectivementioning

confidence: 99%

Jervell and Lange-Nielsen syndrome: A Norwegian perspective

Tranebjaerg

Bathen²,

Tyson³

et al. 1999

Am. J. Med. Genet.

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Jervell and Lange-Nielsen syndrome (MIM 220400; JLNS), is a rare form of profound congenital deafness combined with syncopal attacks and sudden death due to prolonged QTc; it is an autosomal recessive trait. After its first description in Norway in 1957, later reports from many other countries have confirmed its occurrence. Nowhere is the prevalence so high as in Norway, where we estimate a prevalence of at least 1:200,000. The KCNQ1 and KCNE1 proteins coassemble in a potassium channel, and mutations in either the KCNQ1 gene or the KCNE1 gene disrupt endolymph production in the stria vascularis in the cochlea, causing deafness. KCNQ1 seems to be the major gene in JLNS. Long QT syndrome (LQTS) is a separate disorder of either autosomal dominant or recessive inheritance caused by mutations in four different ion channel genes; KCNQ1 is the one most frequently involved. Some heterozygous carriers of JLNS mutations in either gene may suffer from prolonged QTc and be symptomatic LQTS patients with a need for appropriate medical treatment to prevent life-threatening cardiac arrhythmia. In general, frameshift/stop mutations cause JLNS, and missense/splice site mutations cause LQTS, but a precise genotype-phenotype correlation in LQTS and JLNS is not established, which complicates both genetic counseling and clinical risk evaluation in carriers. We review JLNS from a Norwegian perspective because of the unusually high prevalence, the genetic homogeneity associated with considerable mutational heterogeneity, and some evidence for recurrent mutational events as well as one founder mutation. We outline the clinical implications for investigation of deaf children and cases of sudden infant death syndrome as well as careful electrocardiographic monitoring of identified mutation carriers to prevent sudden death. Am. J. Med. Genet. (Semin. Med. Genet.) 89:137-146, 1999.

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Section: Historical Perspectivementioning

confidence: 99%

Jervell and Lange-Nielsen syndrome: A Norwegian perspective

Tranebjaerg

Bathen²,

Tyson³

et al. 1999

Am. J. Med. Genet.

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JERVELL, Anton

Beighton¹,

Beighton²

1997

The Person Behind the Syndrome

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Klinik und Molekulargenetik des Jervell- und Lange-Nielsen-Syndroms

Mönnig

Schulze‐Bahr²,

Wedekind³

et al. 2002

Z Kardiol

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In contrast to the Romano-Ward (R-W) syndrome, the Jervell and Lange-Nielsen (J-LN) syndrome is an autosomal recessive inherited disease characterized by QT-prolongation in the electrocardiogram (ECG) and recurrent syncopal attacks which are also typical for the R-W syndrome, but also by congenital deafness. Recently, defect alleles in the genes for KCNQ1 and KCNE1 have been identified in patients with the J-LN syndrome. These genes may be causative for the R-W syndrome as well but in J-LN patients, they are only present in the homozygote or compound heterozygote form. In the present paper, we review the clinical and genetic similarities and differences of the J-LN and the R-W syndrome as well as the diagnostic and therapeutic management of these patients and their family members.

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The Surdo-Cardiac Syndrome

Cited by 11 publications

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Jervell and Lange-Nielsen syndrome: A Norwegian perspective

Jervell and Lange-Nielsen syndrome: A Norwegian perspective

JERVELL, Anton

Klinik und Molekulargenetik des Jervell- und Lange-Nielsen-Syndroms

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