I-Brugada syndrome yisifo esingajwayelekile esaziwa ngokubandakanyeka kwenhliziyo. Imvamisa kuphumela ekukhuleni kwenhliziyo (i-arrhythmia). Lokhu kukhuphuka kwenhliziyo nakho kungaholela ekubeni kushayeke ukushaya kwenhliziyo, ukuquleka noma ngisho nokufa. (2)

Ezinye iziguli kungenzeka zingabi nazimpawu. Kodwa-ke, ngaphandle kwaleli qiniso nokujwayelekile emisipheni yenhliziyo, ushintsho olungazelelwe emsebenzini kagesi wenhliziyo lungaba yingozi.

Kuyisifo sofuzo esingadluliselwa kusuka kwesinye isizukulwane kuya kwesinye.

Ukudlanga ngqo (inani lamacala wesifo ngasikhathi esithile, kubantu abanikeziwe) namanje akwaziwa. Kodwa-ke, isilinganiso sayo singu-5 / 10. Lokhu kwenza kube yisifo esingajwayelekile esingabulala iziguli. (000)

I-Brugada syndrome ithinta kakhulu izifundo ezisencane noma eziphakathi nendawo. Ukuvelela kwabesilisa kuyabonakala kulesi sifo, ngaphandle kokuthi kube nenhlanzeko yokuphila engeyinhle. Ngaphandle kwalokhu kugqama kwabesilisa, abesifazane nabo bangathinteka yi-Brugada syndrome. Leli nani elikhulu lamadoda athintwe yilesi sifo lichazwa yizinhlelo ezahlukahlukene zamahomoni abesilisa / abesifazane. Ngempela, i-testosterone, i-hormone yabesilisa kuphela, ibizoba nendima enkulu ekuthuthukisweni kwezifo.

Lokhu kuvela kwabesilisa / kwabesifazane kuchazwa ngokulinganisa ngesilinganiso se-80/20 sabesilisa. Esibalweni seziguli eziyi-10 ezine-Brugada syndrome, eziyi-8 ngokuvamile zingamadoda kuthi ezi-2 kube ngabesifazane.

Ucwaningo lwe-Epidemiological lukhombisile ukuthi lesi sifo sitholakala ngokuvama okuphezulu emadodeni aseJapan naseNingizimu-mpumalanga ye-Asia. (2)

Ku-Brugada syndrome, izimpawu eziyinhloko zivame ukubonakala ngaphambi kokuqala kokushaya kwenhliziyo okuphezulu ngokungajwayelekile. Lezi zimpawu zokuqala kufanele zikhonjwe ngokushesha okukhulu ukuze kugwenywe izinkinga, futhi ikakhulukazi ukuboshwa kwenhliziyo.

Lokhu kubonakaliswa okuyisisekelo kwemitholampilo kufaka:

• ukukhubazeka kagesi kwenhliziyo;
• ukushaya kwenhliziyo;
• isiyezi.

Iqiniso lokuthi lesi sifo sinomsuka wefa kanye nokuba khona kwamacala alesi sifo emndenini kungaphakamisa umbuzo wokuba khona kwalesi sifo esihlokweni.

Ezinye izimpawu zingadinga ukuthuthukiswa kwalesi sifo. Ngempela, cishe isiguli esisodwa kwezi-1 esine-Brugada syndrome sike sathola i-fibrillation ye-atrial (okufana nomsebenzi owenziwe wahlukaniswa nemisipha yenhliziyo) noma waveza isilinganiso esingajwayelekile sokushaya kwenhliziyo.

Ukuba khona komkhuhlane ezigulini kwandisa amathuba abo okuba zimbi izimpawu ezihambisana ne-Brugada syndrome.

Kwezinye izimo, isigqi senhliziyo esingajwayelekile singaqhubeka futhi siholele ekufakeleni i-ventricular fibrillation. Lesi simo sakamuva sihambelana nochungechunge lwezinciphiso zenhliziyo ezisheshayo futhi ezingalungiswa. Imvamisa, ukushaya kwenhliziyo akubuyeli kokujwayelekile. Inkambu kagesi yemisipha yenhliziyo ivame ukuthinteka ibangele ukumiswa kokusebenza kwepompo yenhliziyo.

I-Brugada syndrome ivame ukuholela ekuboshweni kwenhliziyo okungazelelwe futhi ngenxa yalokho kufe leyo ndaba. Izifundo ezithintekile, ezimweni eziningi, ngabantu abasha abanempilo enempilo. Ukuxilongwa kufanele kusebenze ngokushesha ukuze kutholakale ukwelashwa okusheshayo futhi ngaleyo ndlela kugweme ukubulala. Kodwa-ke, lokhu kutholakala kaningi kunzima ukusungula kusuka endaweni yokubuka lapho izimpawu zingabonakali njalo. Lokhu kuchaza ukufa okungazelelwe kwezinye izingane ezine-Brugada syndrome ezingakhombisi izimpawu ezibonakalayo ezethusayo. (2)

Umsebenzi wemisipha wenhliziyo yeziguli ezine-Brugada syndrome kujwayelekile. Okudidayo kutholakala ekusebenzeni kukagesi kwayo.

Ebusweni benhliziyo, kunezimbotshana ezincane (iziteshi ze-ion). Lokhu kunamandla okuvula nokuvala ngezinga elijwayelekile ukuvumela i-calcium, i-sodium ne-potassium ion ukudlula ngaphakathi kwamaseli enhliziyo. Lokhu kunyakaza kwe-ionic bese kungumsuka womsebenzi kagesi wenhliziyo. Isiginali kagesi bese isakazeka isuka ngenhla kwemisipha yenhliziyo iye phansi futhi ngaleyo ndlela ivumele inhliziyo ukuthi yenze isivumelwano futhi yenze indima yayo “yepompo” yegazi.

Umsuka we-Brugada syndrome ungofuzo. Izinguquko ezahlukahlukene zofuzo zingaba imbangela yokuthuthukiswa kwesifo.

Isakhi sofuzo esivame ukubandakanyeka kwi-pathology yisakhi se-SCN5A. Lesi sakhi sisebenza ekukhishweni kolwazi okuvumela ukuvulwa kwamashaneli e-sodium. Ukuguqulwa ngaphakathi kwalesi sakhi sentshisekelo kubangela ukuguqulwa ekukhiqizweni kweprotheni okuvumela ukuvulwa kwalezi ziteshi ze-ion. Ngalo mqondo, ukugeleza kwama-sodium ion kuncishiswe kakhulu, kuphazamisa ukushaya kwenhliziyo.

Ukuba khona kwekhophi eyodwa kuphela kwamabili ohlobo lwe-SCN5A kwenza kube nokwenzeka ukudala ukuphazamiseka kokugeleza kwe-ionic. Noma, ezimweni eziningi, umuntu othintekile unomunye walaba bazali ababili abanokushintshwa kwezakhi zofuzo zaleso sakhi.

Ngaphezu kwalokho, ezinye izakhi zofuzo nezinto zangaphandle nazo zingaba ngumsuka wokungalingani ezingeni lomsebenzi kagesi wemisipha yenhliziyo. Phakathi kwalezi zinto, sikhomba: izidakamizwa ezithile noma ukungalingani kwe-sodium emzimbeni. (2)

Lesi sifo siyadluliselwa by ukudluliswa okuphezulu kwe-autosomal. Kuphakathi, ukutholakala kwekhophi eyodwa kuphela kwamabili ohlobo lwentshisekelo kwanele ukuthi umuntu athuthukise i-phenotype ehambisana nesifo. Imvamisa, umuntu othintekile uba nomunye walaba bazali ababili abanofuzo olushintshiwe. Kodwa-ke, ezimweni ezingavamile, ukuguqulwa okusha kungavela kulesi sizakhi. Lawa macala akamuva athinta izihloko ezingenalo icala lesifo emindenini yazo. (3)

Izici ezinobungozi ezihambisana nalesi sifo ziyizakhi zofuzo.

Eqinisweni, ukudluliswa kwe-Brugada syndrome kulawula kakhulu i-autosomal. Noma ngabe yikuphi, ukutholakala kwekhophi eyodwa kuphela kwamabili ohlobo olushintshiwe kuyadingeka ukuze lowo ofakazi afakazele lesi sifo. Ngalo mqondo, uma omunye wabazali ababili eletha ukuguquka kohlobo lofuzo, ukudluliswa kwesifo okuqonde mpo kungenzeka kakhulu.

Ukutholakala kwalesi sifo kusekelwe ekutholeni umehluko oyinhloko. Ngempela, kulandela ukuhlolwa kwezokwelapha ngudokotela ojwayelekile, kuqaphela izimpawu zesifo kuleso sihloko, ukuthi ukukhula kwesifo kungasuswa.

Ukulandela lokhu, ukuvakashelwa kudokotela wenhliziyo kunganconywa ukuqinisekisa noma cha ukuxilongwa okwehlukile.

I-electrocardiogram (ECG) iyindinganiso yegolide ekutholeni lesi sifo. Lokhu kuhlolwa kukala izinga lokushaya kwenhliziyo kanye nomsebenzi kagesi wenhliziyo.

Esimweni lapho kusolwa khona i-Brugada syndrome, ukusetshenziswa kwezidakamizwa ezinjenge: ajmaline noma i-flecainide kwenza kube lula ukukhombisa ukuphakama kwengxenye ye-ST ezigulini ezisolwa ngokuba nalesi sifo.

I-echocardiogram kanye / noma iMagnetic Resonance Imaging (MRI) kungadingeka ukuhlola ubukhona bezinye izinkinga zenhliziyo. Ngaphezu kwalokho, ukuhlolwa kwegazi kungalinganisa amazinga e-potassium ne-calcium egazini.

Ukuhlolwa kofuzo kungenzeka ukukhomba ukuthi kungenzeka kube khona okungajwayelekile kuhlobo lwe-SCN5A olubandakanyeka ku-Brugada syndrome.

Ukwelashwa okujwayelekile kwalolu hlobo lwe-pathology kusekelwe ekufakweni kwe-defibrillator yenhliziyo. Lesi sakamuva sifana ne-pacemaker. Lo mshini wenza ukuthi kwenzeke, uma kwenzeka imvamisa ye-beat ephezulu ngokweqile, ukuletha ukushaqeka kukagesi okuvumela isiguli ukuthi siphinde sithole isigqi senhliziyo esijwayelekile.

Njengamanje, alukho umuthi wokwelashwa okhona wokwelapha lesi sifo. Ngaphezu kwalokho, ezinye izinyathelo zingathathwa ukugwema ukuphazamiseka kwesigqi. Lokhu kwenzeka ikakhulukazi ngokuxoshwa ngenxa yohudo (kuthinta ibhalansi ye-sodium emzimbeni) noma umkhuhlane, ngokuthatha izidakamizwa ezanele. (2)