Academic Journal
LAMIN A/C GENE (LMNA) MUTATIONS IN PATIENTS WITH DILATED CARDIOMYOPATHY AND THEIR PHENOTYPIC MANIFESTATION
| Τίτλος: | LAMIN A/C GENE (LMNA) MUTATIONS IN PATIENTS WITH DILATED CARDIOMYOPATHY AND THEIR PHENOTYPIC MANIFESTATION |
|---|---|
| Συγγραφείς: | T. G. Vaikhanskaya, L. N. Sivitskaya, N. G. Danilenko, T. V. Kurushka, O. G. Davydenko |
| Πηγή: | Евразийский Кардиологический Журнал, Vol 0, Iss 1, Pp 3-11 (2016) |
| Στοιχεία εκδότη: | Intermedservice Ltd, 2016. |
| Έτος έκδοσης: | 2016 |
| Θεματικοί όροι: | 0301 basic medicine, белки ядерной ламины, 0303 health sciences, дилатационная кардиомиопатия (дкмп), мутации гена ламина а/с (lmna), жизнеугрожающие аритмии, dilated cardiomyopathy (dcm), life-threatening arrhythmias, 3. Good health, lmna gene mutations, 03 medical and health sciences, nuclear lamin proteins, RC666-701, cardioverter-defibrillator, Diseases of the circulatory (Cardiovascular) system, кардиовертер-дефибриллятор (квд) |
| Περιγραφή: | This article presents the current view on the structure and functions of nuclear lamin proteins, pathological phenotypes of persons with LMNA mutations and clinical problems of lamin-related dilated cardiomyopathy diagnostics and management. Dilated cardiomyopathy (DCM) caused by mutations in the LMNA gene is often associated with conduction disorders, cardiac arrhythmias and extracardiac features with discrete muscle disruption. This disease is characterized by a poor prognosis and high risk of sudden cardiac death due to conduction disturbances (life-threatening blockade) or ventricular tachyarrhythmias (fatal ventricular tachycardias\fibrillation). We describe here 2 cases of lamin-type DCM associated with definite LMNA mutations. Educational focus for reader-cardiologist is а recognition of potential carriers followed by molecular genetic testing for diagnostics of LMNA mutation and tissues regarding optimal management of patients, especially timing for prophylactic cardioverter-defibrillator. |
| Τύπος εγγράφου: | Article |
| ISSN: | 2305-0748 2225-1685 |
| DOI: | 10.38109/2225-1685-2016-1-3-11 |
| Σύνδεσμος πρόσβασης: | https://www.heartj.asia/jour/article/download/5657/5659 https://doaj.org/article/6921482a975c4b1f93220f85685384ac |
| Rights: | CC BY URL: https://www.heartj.asia/jour/about/editorialPolicies#openAccessPolicy |
| Αριθμός Καταχώρησης: | edsair.doi.dedup.....5e4e8afe79c5ba5afffe4bf29f0a23a6 |
| Βάση Δεδομένων: | OpenAIRE |
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