Tijdschrift voor kindergeneeskunde

, Volume 70, Issue 2, pp 207–212

Het lange-qt-tijdsyndroom bij kinderen

  • A. D. J. ten Harkel
  • L. J. Lubbers
  • Th. Hoorntje
  • N. A. Blom
  • I. M. van Langen
  • N. Sreeram
  • A. A. M. Wilde
Artikelen
  • 22 Downloads

Samenvatting

In drie academische ziekenhuizen zijn 29 kinderen met het lange-qt-tijdsyndroom (lqts) onder controle. De leeftijd is gemiddeld 10 jaar (3-17). Van hen gebruiken er 22 bètablokkers, bij drie gecombineerd met een pacemaker. Het genotype is bij 22 kinderen bekend; bij twaalf kinderen is er sprake van lqts1, bij acht van lqts2 en bij twee van lqts3. De diagnose werd bij vier kinderen direct na de geboorte gesteld naar aanleiding van onbegrepen bradycardie, bij drie kinderen werd de diagnose na bijna-verdrinking vastgesteld en bij vier naar aanleiding van onbegrepen syncope. Van deze elf kinderen was er bij acht sprake van een positieve familieanamnese voor plotselinge hartdood op jonge leeftijd of frequente syncope. Bij achttien kinderen werd de diagnose bij familieonderzoek gesteld. Ook bij deze kinderen bleek er bij zes al eerder sprake te zijn geweest van syncope.

Concluderend is het lqts een ziekte met hoge mortaliteit, die sterk afneemt onder behandeling. Goede evaluatie van patiënt en familie bij onbegrepen syncope, (bijna-)verdrinking of plotselinge hartdood is dan ook van belang voor vroege opsporing. Een goede samenwerking tussen (kinder)cardioloog en klinisch geneticus is hierbij belangrijk.

Summary

We examined 29 pediatric patients with long-qt-syndrome in three academic hospitals. The mean age was 10 years (3-17). Of these patients 22 used betablocker therapy, in three combined with pacemaker. Genotyping has been performed in 22 children. lqts1 (mutation in the kcnq1 gene) was found in twelve, lqts2 (mutation in the herg gene) in eight and lqts3 (mutation in the scn5a gene) in two. Patients came under attention due to bradycardia postnatally in four, after near-drowning in three and after syncope in another four patients. In most of these eleven children family history was found retrospectively to be positive for sudden cardiac death or recurrent syncope. In eighteen children the diagnosis of lqts was made during family screening. Retrospectively, six of these children were found to have had recurrent syncope. Although lqts is becoming a well-known disease, there still are patients that come under attention after a considerable delay. This may result in sudden cardiac death that might have been prevented. Genotyping is essential in this familial disorder. There is a relation between genotype and fenotype, thus leading to differences in therapy and advice. It is also possible to diagnose asymptomatic carriers, thus enabling secondary prevention.

In conclusion, lqts has a high mortality, which can be greatly reduced by therapy. It is therefore necessary to evaluate precisely patients and family members in the case of recurrent syncope, near-drowning or sudden cardiac death. The joint management of (pediatric) cardiologist and clinical geneticist plays an important role in diagnosis and therapy.

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Copyright information

© Bohn Stafleu van Loghum 2002

Authors and Affiliations

  • A. D. J. ten Harkel
    • 1
  • L. J. Lubbers
  • Th. Hoorntje
  • N. A. Blom
  • I. M. van Langen
  • N. Sreeram
  • A. A. M. Wilde
  1. 1.

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