LIFE-THREATENING MANIFEST OF LONG-QT-SYNDROME
Aim. To complete DNA-diagnostics for the patients with syncopes and not showing clinically significant rhythm disorders, but with family anamnesis of sudden death. Material and methods. Clinical case. The patient 22 y.o. consulted at RSCS n.a.Petrovsky with the primary diagnosis of "inherited e...
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«FIRMA «SILICEA» LLC
2014-05-01
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| Series: | Российский кардиологический журнал |
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| Online Access: | https://russjcardiol.elpub.ru/jour/article/view/73 |
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| author | M. E. Polyak D. G. Podolyak O. V. Glazova E. A. Artyukhina M. A. Nechaenko E. V. Zaklyazminskaya |
| author_facet | M. E. Polyak D. G. Podolyak O. V. Glazova E. A. Artyukhina M. A. Nechaenko E. V. Zaklyazminskaya |
| author_sort | M. E. Polyak |
| collection | DOAJ |
| description | Aim. To complete DNA-diagnostics for the patients with syncopes and not showing clinically significant rhythm disorders, but with family anamnesis of sudden death. Material and methods. Clinical case. The patient 22 y.o. consulted at RSCS n.a.Petrovsky with the primary diagnosis of "inherited epilepsy" and complaints on presyncopes and dizziness. During examination there was no data found to prove the inherited epilepsy and clinically significant rhythm disorders. Taking into account the family anamnesis of sudden death a dignosis of "idiopathic ventricular tachycardia" was suggested and the patient underwent two-chamber rate-adaptive cardioverter-defibrillator Maximo II DR D284DRG implantation. DNA-testing revealed a mutation of p.R583H in the gene KCNQ1, that had been previously described as probable to cause type 1 long-QT-syndrome. During the next 12 month after implantation there were 2 proven strobes recorded. The patient was consulted by cardiologist to prescribe beta-blocker therapy.Results. Although there were no clinically significant heart rhythm disorders found, the patient with suspected family type of idiopathic ventricular tachicardia underwent cardioverter-defibrillator setting up procedure. Molecular-genetic methods helped to prove the diagnosis of "long-QT-syndrome type 1" and the cascade family screening was started to choose a treatment strategy for asymptopathic mutation bearers. Conclusion. By the example of the clinical case described we showed a significance of DNA-diagnostics in the diagnosis clarification, treatment strategy choice and sufficient medical-genetic consulting for the disease mentioned. |
| format | Article |
| id | doaj-art-8a23f744e7854b0eb17c5e7fa98cb88d |
| institution | Matheson Library |
| issn | 1560-4071 2618-7620 |
| language | Russian |
| publishDate | 2014-05-01 |
| publisher | «FIRMA «SILICEA» LLC |
| record_format | Article |
| series | Российский кардиологический журнал |
| spelling | doaj-art-8a23f744e7854b0eb17c5e7fa98cb88d2025-08-04T13:00:09Zrus«FIRMA «SILICEA» LLCРоссийский кардиологический журнал1560-40712618-76202014-05-0105727410.15829/1560-4071-2014-5-72-7473LIFE-THREATENING MANIFEST OF LONG-QT-SYNDROMEM. E. Polyak0D. G. Podolyak1O. V. Glazova2E. A. Artyukhina3M. A. Nechaenko4E. V. Zaklyazminskaya5FSBI Petrovsky Russian Scientific Centre for Surgery, MoscowFSBI Petrovsky Russian Scientific Centre for Surgery, MoscowFSBI Petrovsky Russian Scientific Centre for Surgery, MoscowThe Scientific Centre for Cardiovascular Surgery n.a. Bakulev, Moscow, RussiaFSBI Petrovsky Russian Scientific Centre for Surgery, MoscowFSBI Petrovsky Russian Scientific Centre for Surgery, MoscowAim. To complete DNA-diagnostics for the patients with syncopes and not showing clinically significant rhythm disorders, but with family anamnesis of sudden death. Material and methods. Clinical case. The patient 22 y.o. consulted at RSCS n.a.Petrovsky with the primary diagnosis of "inherited epilepsy" and complaints on presyncopes and dizziness. During examination there was no data found to prove the inherited epilepsy and clinically significant rhythm disorders. Taking into account the family anamnesis of sudden death a dignosis of "idiopathic ventricular tachycardia" was suggested and the patient underwent two-chamber rate-adaptive cardioverter-defibrillator Maximo II DR D284DRG implantation. DNA-testing revealed a mutation of p.R583H in the gene KCNQ1, that had been previously described as probable to cause type 1 long-QT-syndrome. During the next 12 month after implantation there were 2 proven strobes recorded. The patient was consulted by cardiologist to prescribe beta-blocker therapy.Results. Although there were no clinically significant heart rhythm disorders found, the patient with suspected family type of idiopathic ventricular tachicardia underwent cardioverter-defibrillator setting up procedure. Molecular-genetic methods helped to prove the diagnosis of "long-QT-syndrome type 1" and the cascade family screening was started to choose a treatment strategy for asymptopathic mutation bearers. Conclusion. By the example of the clinical case described we showed a significance of DNA-diagnostics in the diagnosis clarification, treatment strategy choice and sufficient medical-genetic consulting for the disease mentioned.https://russjcardiol.elpub.ru/jour/article/view/73lqtskcnq1sudden cardiac deathidiopathic ventricular tachycardia |
| spellingShingle | M. E. Polyak D. G. Podolyak O. V. Glazova E. A. Artyukhina M. A. Nechaenko E. V. Zaklyazminskaya LIFE-THREATENING MANIFEST OF LONG-QT-SYNDROME Российский кардиологический журнал lqts kcnq1 sudden cardiac death idiopathic ventricular tachycardia |
| title | LIFE-THREATENING MANIFEST OF LONG-QT-SYNDROME |
| title_full | LIFE-THREATENING MANIFEST OF LONG-QT-SYNDROME |
| title_fullStr | LIFE-THREATENING MANIFEST OF LONG-QT-SYNDROME |
| title_full_unstemmed | LIFE-THREATENING MANIFEST OF LONG-QT-SYNDROME |
| title_short | LIFE-THREATENING MANIFEST OF LONG-QT-SYNDROME |
| title_sort | life threatening manifest of long qt syndrome |
| topic | lqts kcnq1 sudden cardiac death idiopathic ventricular tachycardia |
| url | https://russjcardiol.elpub.ru/jour/article/view/73 |
| work_keys_str_mv | AT mepolyak lifethreateningmanifestoflongqtsyndrome AT dgpodolyak lifethreateningmanifestoflongqtsyndrome AT ovglazova lifethreateningmanifestoflongqtsyndrome AT eaartyukhina lifethreateningmanifestoflongqtsyndrome AT manechaenko lifethreateningmanifestoflongqtsyndrome AT evzaklyazminskaya lifethreateningmanifestoflongqtsyndrome |