{"id":984,"date":"2022-02-09T18:31:34","date_gmt":"2022-02-09T17:31:34","guid":{"rendered":"https:\/\/genocan.eu\/?p=984"},"modified":"2023-12-06T09:24:32","modified_gmt":"2023-12-06T08:24:32","slug":"cestina-ma-smysl-u-ridgebacku-testovat-dedicnou-arytmii-rr-iva","status":"publish","type":"post","link":"https:\/\/genocan.eu\/cs\/news\/cestina-ma-smysl-u-ridgebacku-testovat-dedicnou-arytmii-rr-iva\/","title":{"rendered":"M\u00e1 smysl testovat d\u011bdi\u010dnou komorovou arytmii (RR IVA) u Rhod\u00e9sk\u00fdch ridgeback\u016f?"},"content":{"rendered":"

D\u011bdi\u010dn\u00e1 komorov\u00e1 arytmie<\/strong> u Rhod\u00e9sk\u00fdch ridgeback\u016f (RR IVA) je onemocn\u011bn\u00ed, kter\u00e9 bylo prvotn\u011b pops\u00e1no a pojmenov\u00e1no v\u011bdeck\u00fdm t\u00fdmem veden\u00fdm Dr. Kathryn Meurs p\u016fsob\u00edc\u00edm na st\u00e1tn\u00ed univerzit\u011b v Severn\u00ed Karol\u00edn\u011b v USA.<\/p>\n\n\n\n

Spr\u00e1vn\u00e1 \u010dinnost srdce a kdy\u017e se \u0159ekne arytmie<\/strong><\/p>\n\n\n\n

Abychom pochopili podstatu onemocn\u011bn\u00ed, kr\u00e1tce si pop\u00ed\u0161eme, jak srdce pracuje a je jedno jestli lidsk\u00e9 nebo ps\u00ed. \u010cinnost srdce je \u0159\u00edzena pravideln\u00fdmi elektrick\u00fdmi vzruchy, kter\u00e9 se \u0161\u00ed\u0159\u00ed srde\u010dn\u00ed svalovinou a zp\u016fsobuj\u00ed jej\u00ed koordinovan\u00fd stah.  P\u0159i stahu svaloviny komor srdce doch\u00e1z\u00ed k vypuzen\u00ed krve k org\u00e1n\u016fm a tk\u00e1n\u00edm cel\u00e9ho t\u011bla. Srde\u010dn\u00ed rytmus \u010di p\u0159esn\u011bji tepov\u00e1 frekvence se m\u011bn\u00ed zcela p\u0159irozen\u011b v z\u00e1vislosti na r\u016fzn\u00fdch situac\u00edch, nap\u0159\u00edklad p\u0159i fyzick\u00e9 n\u00e1maze, odpo\u010dinku nebo stresu.<\/p>\n\n\n\n

Kdy\u017e srde\u010dn\u00ed rytmus ztr\u00e1c\u00ed svou pravidelnost, mluv\u00edme o poruch\u00e1ch srde\u010dn\u00edho rytmu – arytmii. Arytmie pat\u0159\u00ed u lid\u00ed mezi nej\u010dast\u011bj\u0161\u00ed srde\u010dn\u00ed poruchy. Jsou d\u016fsledkem abnorm\u00e1ln\u00ed tvorby nebo veden\u00ed elektrick\u00fdch vzruch\u016f v srdci. Ve v\u011bt\u0161in\u011b p\u0159\u00edpad\u016f jde o naprosto nez\u00e1va\u017en\u00e9 arytmie, kter\u00e9 si posti\u017een\u00fd \u010dlov\u011bk v\u016fbec neuv\u011bdomuje nebo mu z\u00e1sadn\u011b nevad\u00ed, a kter\u00e9 lze zachytit pouze monitorov\u00e1n\u00edm elektrokardiogramu (EKG). Jednoduchou vy\u0161et\u0159ovac\u00ed metodou je monitorov\u00e1n\u00ed holterem, co\u017e je na t\u011ble p\u0159ipevn\u011bn\u00e1 drobn\u00e1 krabi\u010dka umo\u017e\u0148uj\u00edc\u00ed nep\u0159etr\u017eit\u00e9 sn\u00edm\u00e1n\u00ed EKG (typicky po dobu 24h).<\/p>\n\n\n\n

N\u00e1hl\u00e1 \u00famrt\u00ed u Rhod\u00e9sk\u00fdch ridgeback\u016f<\/strong><\/p>\n\n\n\n

Nyn\u00ed se vra\u0165me zp\u00e1tky k v\u011bdeck\u00e9mu t\u00fdmu Dr. Kathryn Meurs, kter\u00e1 ve sv\u00e9 pr\u00e1ci zkoumala \u010dty\u0159i p\u0159\u00edpady n\u00e1hl\u00e9ho \u00famrt\u00ed u \u010dty\u0159 p\u0159\u00edbuzn\u00fdch ridgeback\u016f. Bohu\u017eel se nepoda\u0159ilo objasnit p\u0159\u00ed\u010dinu t\u011bchto n\u00e1hl\u00fdch \u00famrt\u00ed. Jedin\u00e9, co se zjistilo, byly abnorm\u00e1ln\u00ed z\u00e1znamy EKG po\u0159\u00edzen\u00e9 z monitorov\u00e1n\u00ed holterem u dal\u0161\u00edch ps\u016f p\u0159\u00edbuzn\u00fdch k t\u011bm, kte\u0159\u00ed n\u00e1hle zem\u0159eli. Tito p\u0159\u00edbuzn\u00ed jedinci vykazovali tzv. \u010detn\u00e9 komorov\u00e9 extrasystoly (angl. PVC – Premature Ventricular Complexes). To vedlo k domn\u011bnce, \u017ee za n\u00e1hl\u00fdm \u00famrt\u00edm u RR stoj\u00ed pr\u00e1v\u011b komorov\u00e9 arytmie. Je nutn\u00e9 dodat, \u017ee n\u00e1hl\u00e1 \u00famrt\u00ed v ran\u00e9m v\u011bku jsou u RR velmi vz\u00e1cn\u00e1 a v drtiv\u00e9 v\u011bt\u0161in\u011b p\u0159\u00edpad\u016f se nezjist\u00ed p\u0159\u00ed\u010dina, tedy zdali je v\u016fbec p\u0159\u00ed\u010dinou srde\u010dn\u00ed selh\u00e1n\u00ed.<\/p>\n\n\n\n

Genetick\u00fd test pro (RR IVA)<\/strong><\/p>\n\n\n\n

V\u011bdeck\u00fd t\u00fdm veden\u00fd Dr. Kathryn Meurs p\u0159edstavil genetick\u00fd test, kter\u00fd m\u00e1 b\u00fdt prediktivn\u00ed pro ridgebacky s\u00a0dispozic\u00ed k RR IVA. Testuje se varianta v\u00a0genu QIL1_chr.20g.54343438G-A, p\u0159edpokl\u00e1d\u00e1 se recesivn\u00ed d\u011bdi\u010dnost, ale nelze vylou\u010dit dominantn\u00ed d\u011bdi\u010dnost s ne\u00faplnou penetranc\u00ed, tak\u017ee v\u00fdsledek testu je bu\u010f a) negativn\u00ed, b) pozitivn\u00ed heterozygot, c) pozitivn\u00ed homozygot. Za\u010dalo se tedy testovat, ale nebyla zn\u00e1m\u00e1 informace o po\u010dtu pozitivn\u00edch jedinc\u016f. Proto do\u0161lo k\u00a0iniciativ\u011b za \u00fa\u010delem z\u00edskat data z\u00a0testov\u00e1n\u00ed, kdy se komunit\u011b chovatel\u016f RR poda\u0159ilo shrom\u00e1\u017edit v\u00fdsledky testov\u00e1n\u00ed u 244 Rhod\u00e9sk\u00fdch ridgeback\u016f (Tabulka 1).<\/p>\n\n\n\n

Tabulka 1<\/strong>: Shrnut\u00ed v\u00fdsledk\u016f test\u016f DNA na RR IVA; \u00fadaje, kter\u00e9 dobrovoln\u011b poskytli r\u016fzn\u00ed \u010dlenov\u00e9 RR komunity.<\/p>\n\n\n\n

 <\/td>Negativn\u00ed<\/strong><\/td>Pozitivn\u00ed heterozygot<\/strong><\/td>Pozitivn\u00ed homozygot<\/strong><\/td>Celkov\u011b<\/strong><\/td><\/tr>
Po\u010det<\/strong><\/td>43<\/td>117<\/td>84<\/td>244<\/strong><\/strong><\/td><\/tr>
Procentu\u00e1ln\u00ed zastoupen\u00ed<\/strong><\/td>17.6 %<\/td>48.0 %<\/td>34.4 %<\/td>100 %<\/strong><\/strong><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n

Z v\u00fd\u0161e uveden\u00e9 tabulky je patrn\u00e9, \u017ee po\u010det pozitivn\u00edch ridgeback\u016f p\u0159esahuje 80 %. Znamen\u00e1 to, \u017ee jsou v\u0161ichni pozitivn\u00ed jedinci v riziku? Na tuto ot\u00e1zku se sna\u017eil odpov\u011bd\u011bt pr\u016fzkum, kter\u00fd byl iniciov\u00e1n pomoc\u00ed facebookov\u00e9 str\u00e1nky Rhodesian Ridgeback IVA. V r\u00e1mci pr\u016fzkumu byly shrom\u00e1\u017ed\u011bny nejen v\u00fdsledky test\u016f DNA, ale i v\u00fdsledky monitorov\u00e1n\u00ed holterem u ps\u016f mlad\u0161\u00edch 3 let, jeliko\u017e dle autor\u016f jsou jedinci star\u0161\u00ed 3 let ji\u017e m\u00e9n\u011b ohro\u017een\u00ed a riziko poruchy srde\u010dn\u00edho rytmu \u010di selh\u00e1n\u00ed v\u00fdrazn\u011b kles\u00e1. V\u00fdsledky jsou shrnuty v Tabulce 2.<\/p>\n\n\n\n

Tabulka 2<\/strong>: Vztah mezi v\u00fdsledky DNA testu na RR IVA a v\u00fdsledk\u016f monitorov\u00e1n\u00ed holterem<\/p>\n\n\n\n

V\u00fdsledek DNA testu<\/strong><\/td>Po\u010det testovan\u00fdch ps\u016f<\/strong><\/td>Po\u010det ps\u016f se srde\u010dn\u00ed arytmi\u00ed <\/strong>
dle monitorov\u00e1n\u00ed holterem<\/strong><\/td>		Posti\u017een\u00fdch arytmi\u00ed (%)<\/strong><\/td><\/tr>
Pozitivn\u00ed homozygot<\/strong><\/td>54<\/td>13<\/td>24 %<\/td><\/tr>
Pozitivn\u00ed heterozygot<\/strong><\/td>48<\/td>10<\/td>21 %<\/td><\/tr>
Negativn\u00ed<\/strong><\/td>23<\/td>4<\/td>17 %<\/td><\/tr>
Celkov\u011b<\/strong><\/td>125<\/strong><\/strong><\/td>27<\/strong><\/strong><\/td>22 %<\/strong><\/strong><\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n

Tyto \u00fadaje ukazuj\u00ed, \u017ee DNA testov\u00e1n\u00ed RR IVA nen\u00ed prediktivn\u00ed,  proto\u017ee test nen\u00ed spolehliv\u00fd ukazatel na rizika posti\u017een\u00ed juveniln\u00ed srde\u010dn\u00ed arytmi\u00ed u RR, nemluv\u011b o n\u00e1hl\u00e9m \u00famrt\u00ed. U testovan\u00e9 skupiny 125 ps\u016f je pod\u00edl jedinc\u016f se zji\u0161t\u011bnou arytmi\u00ed na \u00farovni „posti\u017een\u00ed“ (>50 PVCs\/24h, m\u011b\u0159eno holterem) srovnateln\u00fd bez ohledu na v\u00fdsledek DNA testu. Dokonce u ps\u016f s negativn\u00edm v\u00fdsledkem DNA testu byly zaznamen\u00e1ny nepravidelnosti srde\u010dn\u00edho rytmu.<\/p>\n\n\n\n

Z\u00e1v\u011br:<\/strong><\/p>\n\n\n\n

Dle v\u00fdsledk\u016f studi\u00ed a m\u011b\u0159en\u00ed holterem se ukazuje, \u017ee nepravidelnosti srde\u010dn\u00edho rytmu (arytmie) jsou u Rhod\u00e9sk\u00fdch ridgeback\u016f b\u011b\u017en\u00e9 a objevuj\u00ed se u p\u0159ibli\u017en\u011b 20 % ps\u016f, bez zn\u00e1mek z\u00e1va\u017en\u011bj\u0161\u00edho srde\u010dn\u00edho \u010di jin\u00e9ho onemocn\u011bn\u00ed. V\u00fdsledky koreluj\u00ed s \u0161irok\u00fdm v\u00fdskytem arytmi\u00ed u lid\u00ed, u kter\u00fdch se pova\u017euj\u00ed za b\u011b\u017enou benign\u00ed abnormalitu, pokud dan\u00fd \u010dlov\u011bk netrp\u00ed dal\u0161\u00edm srde\u010dn\u00edm onemocn\u011bn\u00edm (nap\u0159. neprod\u011blal infarkt).<\/p>\n\n\n\n

Genetick\u00fd test na RR IVA se zam\u011b\u0159uje na genetickou variantu v genu QIL1, kter\u00e1 se vyskytuje u >80 % Rhod\u00e9sk\u00fdch ridgeback\u016f, tedy nelze hovo\u0159it o mutaci a st\u011b\u017e\u00ed lze hovo\u0159it o rizikov\u00e9m faktoru. Jeliko\u017e jsou n\u00e1hl\u00e1 \u00famrt\u00ed u RR velmi vz\u00e1cn\u00e1, je nanejv\u00fd\u0161 nepravd\u011bpodobn\u00e9, \u017ee by mohly b\u00fdt spojov\u00e1ny s variantou v genu QIL1, kter\u00e1 je v populaci RR tak \u010detn\u00e1.  <\/p>\n\n\n\n

P\u0159esto\u017ee jsou zn\u00e1my vz\u00e1cn\u00e9 p\u0159\u00edpady n\u00e1hl\u00fdch \u00famrt\u00ed Rhod\u00e9sk\u00fdch ridgeback\u016f, jedn\u00e1 se pravd\u011bpodobn\u011b o p\u0159\u00edtomnost jin\u00e9ho z\u00e1va\u017en\u00e9ho genetick\u00e9ho faktoru, pop\u0159. skryt\u00e9ho individu\u00e1ln\u00edho onemocn\u011bn\u00ed.<\/p>\n\n\n\n

Na z\u00e1klad\u011b v\u00fd\u0161e uveden\u00e9ho se zd\u00e1, \u017ee genetick\u00e9 testov\u00e1n\u00ed na RR IVA nen\u00ed opodstatn\u011bn\u00e9 a p\u0159\u00ednosn\u00e9, naopak m\u016f\u017ee b\u00fdt \u0161kodliv\u00e9 pro populaci RR, jeliko\u017e doch\u00e1z\u00ed k selekci a sn\u00ed\u017een\u00ed po\u010dtu jedinc\u016f pro p\u00e1\u0159en\u00ed bez prokazateln\u00e9ho zdravotn\u00edho benefitu.<\/p>\n\n\n\n

<\/p>\n\n\n\n

Reference:<\/p>\n\n\n\n

1) Clayton Heathcock https:\/\/camelotrr.com\/RRIVA.pdf<\/p>\n\n\n\n

2) Meurs, K. M. et al.<\/em>, \u201cVentricular arrhythmias in Rhodesian Ridgebacks with a family history of sudden death and results of a pedigree analysis for potential inheritance patterns,\u201d JAVMA<\/em>, 2016, 248<\/em>, 1135-1138. (b) See also Meurs webinar, February 10, 2017<\/p>\n\n\n\n

3) Rhodesian Ridgeback Inherited Arrhythmia (RR IVA); https:\/\/www.facebook.com\/groups\/1346498062074178<\/p>","protected":false},"excerpt":{"rendered":"

D\u011bdi\u010dn\u00e1 komorov\u00e1 arytmie u Rhod\u00e9sk\u00fdch ridgeback\u016f (RR IVA) je onemocn\u011bn\u00ed, kter\u00e9 bylo prvotn\u011b pops\u00e1no a pojmenov\u00e1no v\u011bdeck\u00fdm t\u00fdmem veden\u00fdm Dr. Kathryn Meurs p\u016fsob\u00edc\u00edm na st\u00e1tn\u00ed univerzit\u011b v Severn\u00ed Karol\u00edn\u011b v USA. Spr\u00e1vn\u00e1 \u010dinnost srdce a kdy\u017e se \u0159ekne arytmie Abychom pochopili podstatu onemocn\u011bn\u00ed, kr\u00e1tce si pop\u00ed\u0161eme, jak srdce pracuje a je jedno jestli lidsk\u00e9 nebo ps\u00ed. \u010cinnost […]<\/p>\n","protected":false},"author":2,"featured_media":997,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_editorskit_title_hidden":false,"_editorskit_reading_time":0,"_editorskit_is_block_options_detached":false,"_editorskit_block_options_position":"{}","om_disable_all_campaigns":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"categories":[17],"tags":[],"class_list":["post-984","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news"],"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/posts\/984","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/comments?post=984"}],"version-history":[{"count":0,"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/posts\/984\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/media\/997"}],"wp:attachment":[{"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/media?parent=984"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/categories?post=984"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/genocan.eu\/cs\/wp-json\/wp\/v2\/tags?post=984"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}