Holt Oram syndrome. Syndrome "dzanja ndi mtima"

Holt syndrome - Oram - ndi matenda ndi mtundu autosomal cholowa, amene amakhala ndi zotupa za chibadwa angapo. Iwo ali ndi udindo kapangidwe anatomical wa mtima ndi mafupa. matenda amenewa amatchedwa matenda a "dzanja ndi mtima."

Ndi chiyani icho?

matenda opatsirana mwa cholowa, izo Chili osiyanasiyana malformations wa malekezero a kumtunda ndi matenda obadwa nawo a mtima. Nkofunika kuzindikira matenda oyambirira mu chitukuko. Kuti tichite zimenezi, achite kafukufuku chibadwa. Iwo samangokhala kutsimikizira matenda, komanso kulosera mosavuta matenda a m'mibadwo yanu.

Ultrasound tione mimba zimathandiza kuzindikira mwamsanga chisokonezo chitukuko chigoba. Pamene anasonyeza zizindikiro za matenda imachitika vnutriplodnoe aone sanabadwe mwana mtima. Kawirikawiri matenda a Holt - Oram anatsimikiza pambuyo pa kubadwa kwa mwana. zopindika Muzisamala mu dongosolo chigoba mosamala ndi cardiologist monga kukula kwa matenda zimadalira maonekedwe mtima wa matendawa.

Kobadwa nako zopindika matendawa

Yodziwika ndi kuvutika mu Kapangidwe ka mkono ndi dzanja, wosawoneka mbali imodzi kapena pa onse nthawi imodzi. Mlingo wa underdevelopment ndi nthambi mapindikidwe ndi osiyana: ndi pamaso pa phalanges atatu pa chala chimodzi kapena kwina kwathunthu zala pamene chachikulu. Nthawi zambiri izi zimachitika ndi zala pa dzanja lake lamanzere. Pali Zikavuta, pamene pali hypoplasia wa utali wozungulira, kapena kusowa wathunthu zace. Zambiri zokayikitsa kuti: zinaphatikizidwa ndi chilichonse zala zina, sternum mapindikidwe, hypoplasia wa clavicles ndi masamba phewa, kupindika msana. kusintha chigoba musati loopsa kwa moyo wa munthu. Koma kuphwanya luso zinchito za matenda akhudzidwa limba zimapangitsa moyo kukhala wovuta.

Pafupifupi 85% odwala amadwala matenda obadwa nawo a mtima: kuchepetsa wa ritsa ndi lotseguka kung'ambika stenosis a mtsempha wamagazi ndi m'mapapo mwanga, kuphwanya dongosolo valavu. Nthawi zambiri kobadwa nako matenda. Iye ali osiyana mu mwamphamvu kuchokera sadzachitanso amaonekera kwa chilema yaikulu yachiwiri, yomwe ndi chotsatira cha matenda a mtima.

Autosomal cholowa lalikulu

matenda yodziwika ndi:

• Zonse kufala kwa matenda kuchoka mbadwo wina ndi mzake.
• Ngati jini kwambiri proyavlyaemostyu, matenda si mwadya m'badwo, ndipo agona m'banja mu banja lililonse.
• Jini wadutsa kuchokera kholo mwana. Kupatulapo n'koyamba pakhala milandu matenda m'banja chifukwa masinthidwe lachibadwa lomwe kenako Inasamutsanso makolo odwala mwana wathanzi.
• Nthawi zambiri matenda imafalikira ndi mmodzi makolo mzere.
• Osati aliyense m'banja adzalandira matenda jini: m'ziwalo banja wathanzi amabadwa ana popanda zizindikiro za matenda.

• Ngati mayi ndi bambo a mwanayo ali osiyana, kapena mosinthanitsa, bambo wina ndi amayi osiyana, kholo wamba ana akhoza adzalandira matenda.
• An autosomal lalikulu akafuna cholowa sikudalira amene wachokera ku jenda makamaka. Amuna ndi akazi mofanana anakhudzidwa matenda.

matenda septal

Ngati pali chilema izo, kudwala matenda obadwa nawo a mtima, sipangakhalenso olekanitsidwa kapena pamodzi ndi zinthu zina mkati mwa mtima. Matenda kuyambika momasukirana aumbike pakati pa atria awiri: lamanzere ndi lamanja. Ngati wodwala ali ndi matenda syndrome Holt - Oram, iye ali ndi kufupika kwa mpweya, mtima musadandaule, kuchuluka kutopa ndi kungokhala pamodzimodzi kukula, pali pallor a khungu ndi matenda pafupipafupi kupuma. Kobadwa nako matenda a mtima chifukwa cha kudwala uyu amapezeka pafupifupi 5-15% odwala, ndi akazi amapezeka kawiri nthawi kuposa amuna.

Popeza kuti mwana wosabadwayo pamene m'mimba, ali matenda septum lotseguka dzenje chowulungika. Imakhala yachibadwa magazi. Kamodzi mwana wabadwa, una mu ambiri a mwana likutseka. Ngakhale pali nthawi zimenezi sizikuchitika. Koma kumaliseche kwa magazi kudzera kutsegula ang'onoang'ono kwambiri motero kuti munthu simukuona anomaly ndipo analibe ngakhale kuganiza kuti ali limodzi. Iye amakhala mwakachetechete mpaka kukalamba. Chotero kuvutika cholowa monga matenda, kungakhale zamitundu yosiyanasiyana, akalumikidzidwa ndi zimapezeka m'madera osiyanasiyana a izo.

Matenda zopindika. mitundu

• The anomaly wa kugawa chachikulu ngati cushions chitukuko nthenda ndi mukuchitika mu mmunsi mwa chachitatu pafupi mavavu ake trikulyarnymi. Nawonso, kungakhale opunduka ndipo sangathe ntchito yake anafuna. Pali milandu pamene iwo ntchito aumbike ndi wamba atrioventricular vavu septum.
• Mu matenda ndi mbali yachiwiri, amene anamuona pamwamba kapena m'dera la fossa chowulungika. Pankhaniyi, magazi akulowa atrium lamanja ndi lamanzere. Nthawi zambiri zilema zimenezi zimatchedwa sekondale ndipo uka kwa kusowa kwa kupezeka kwa partitions minofu. Koma lofotokozabe zinchito ndi anatomical patency wa chilema.

Zizindikiro vuto matenda

• Holt syndrome - Oram mwachindunji zokhudzana m'badwo wa mtima, kukula kwa chilema septal, kukula kwa m'mapapo mwanga mtima kukana. odwala ambiri ndi chilema izi kuyang'ana mwangwiro wathanzi ndipo musati kudandaula. chakuti magazi mwina akatulutsidwa kumanzere chifukwa kwambiri thukuta, thupi kapena kutopa, osati chifukwa chilema. Nthawi zambiri, mtima kudandaula silimveka. Zimenezi nthawi zina zimachitika ndi chidwi matenda.

• anomaly Izi kawirikawiri chifukwa cha prolapse wa valavu mitral. Odwala matenda bwino phokoso ndi kapena kudina.
• Ngati kukula chilema ioneka munthu ali ndi tachycardia, kufupika kwa mpweya, mtima hump, pamene mtembo wa malire kumakhala kumanja. Ndi zovuta, ntchito zala zanu, kudziwa pulsation a mtsempha wamagazi ndi m'mapapo mwanga.
• Secondary septal chilema Nthawi zina, kungakhale chifukwa cha kulephera mtima. Kumachitika mu 3-5% odwala, makamaka ana osaposa chaka chimodzi. Ngati mulibe opaleshoni, ngozi za imfa kwambiri.

Matenda zopindika. zifukwa

Anomalies zimachitika pamene underdeveloped partitions yaikulu kapena sekondale zndokardialnye odzigudubuza mu nthawi ya embryonic chitukuko.

• Nthawi ya chilemacho chifukwa majini, thupi, chilengedwe ndi matenda.
• Nthenda chitukuko cha kugawa mwana m'mimba ali ndi digiri wamkulu wa chiopsezo ku mabanja amene achibale odwala kobadwa nako matenda a mtima.
• Disease HIV, yodziwika ndi mkazi wapakati zingachititse matenda. Iwo chikuku, nsungu, nthomba, chindoko.
• Mankhwala ndi mowa pa mimba.
• zinthu zoipa yopanga, walitsa.
• Zovuta chifukwa kawopsedwe zinachititsa kuti gestation mwanayo kusweka.

Matenda septal zopindika. Gawo

Mu nthawi kuchokera lachitatu sabata chitatu mimba m'mimba pakugona mtima yoopsa. Ngati kugawa chosakwanira pakati pa amachepetsa lamanja ndi lamanzere mtima, zimenezi zimapangitsa chakuti pali zopindika mu septum matenda, zomwe zosiyanasiyana kukula, chiwerengero ndi malo a m'maenje. Gulu la matenda obadwa nawo a mtima ndi motere:

• zopindika chachikulu yodziwika ndi miyeso ndithu: masentimita atatu kapena asanu. Malo kutanthauzira kwake ndi mmunsi mwa septum, umene uli pamwamba mavavu atrioventricular, monga pamwamba pawo. Iwo alibe m'mphepete pansi.
• zopindika Secondary anapanga chifukwa underdevelopment wa partitions yachiwiri. Iwo ali wamfupi ndi mbali wofunika kapena pakamwa pa mitsempha dzenje la m'deralo. Zimachitika kuti ziwonongeke septum ndi nthenda yothothola mu atrium pomwe m'mapapo mwanga mitsempha amaphatikizidwa. Mu nkhani iyi, septum interatrial ali anapitiriza pansi.
• Pali milandu pamene zopindika pulayimale ndi sekondale alipo imodzi.
• Interatrial septum mwina kwina. Izi zimachititsa wamba, atrium yekha, wotchedwa atatu chipinda mtima.

Kobadwa nako matenda a mtima. diagnostics

Ngati ana akhanda ndi amaganiziridwa matenda amafuna mwamsanga foni cardiologist. Katswiri amafufuza zizindikiro, amaweruza chikhalidwe ndi kuthamanga zimachitika, chikhalidwe cha ziwalo zonse ndi kachitidwe. Atatha kufufuza mwanayo umachitika electrocardiogram, ultrasound, phonocardiogram, X-ray za mtima. Mu chochitika cha mtundu choopsa cha matenda matenda a malformations kobadwa nako ndi lowonjezera ndi kafukufuku wina - mtima catheterization pamene jekeseni M'mimbamo kafukufuku wake.

Nthawi zambiri, makolo mwana anakwiya kuti dokotala sanaulule matenda oopsa pamene mayi woyembekezera mu mimba unkachitika mwa iye. Chifukwa cha matenda obadwa nawo a mtima kungakhale:

• Low mlingo wa Luso zachipatala.
• matenda kobadwa nako si nthawi zonse amatha oterewa m'nthawi yake kuti peculiarities wa kapangidwe ka mtima ndi magazi zotengera za mwana wosabadwayo.
• Kupanda ungwiro kwa zipangizo zachipatala.

Zimayambitsa olumala mtima

Kobadwa nako zopindika mtima makanda chifukwa zopindika anatomical wa mtima ndi mavavu ake ndi mitsempha, zomwe zingachitike m'mimba. Poyamba, iwo akhoza kukhala wosaoneka ndipo zikhoza kukhala zozunguza mwanayo yomweyo pambuyo pa kubadwa. matenda a mtima - ndi zilema ambiri kubadwa mwa ana akhanda, ndipo chifukwa pafupifupi 30%. Iwo ndiwo amayambitsa imfa. Zimayambitsa matenda:

• Anasamutsa woyembekezera, matenda tizilombo monga chikuku, chikuku ndi ena.
• The kusintha kwa maselo chifukwa cha ntchito ya mayi tsogolo la mankhwala, mowa, chikonga.
• kuvutika zosiyanasiyana kukukhala khromozomu wa makolo.
• Ndinakumana ionizing cheza.
• Chakuchepa kwa kufufuza zinthu ndi mavitamini mu zakudya za mkazi wa pakati.
• Zotsatira za mankhwala pa mwana wosabadwayo.

Zizindikiro za matenda obadwa nawo a mtima

Anabadwa ana ndi matenda ndi osiyana. Iwo ndi khungu, milomo, makutu ndi bluish kapena buluu mtundu. Nthawi zina, m'malo mwake, mwana khungu wotumbululuka ndi miyendo ndi ozizira. Zimenezi zimatchedwa woyera chilema akhanda. Pali milandu akamalankhula katswiri bwinobwino amamva mtima kudandaula.

Nthawi zambiri kobadwa nako matenda limba mosadziwa yomweyo pambuyo mwana wabadwa. Kwa zaka 10, mwana adzayang'ana mwangwiro wathanzi. Koma ndiye matenda adzayamba kusonyeza mawonekedwe a buluu mu nkhope kapena blanching wa khungu. Khalani zolakwika noticeable mu kukula, kudzakhala kochepa kwa mpweya.