Holt Oram syndrome. Syndrome ka "nginikeze i-inhliziyo"

Holt syndrome - Oram - isifo esiyingozi nge autosomal ifa uhlobo, esibonakala by izilonda zezakhi zofuzo eziningi. Bazi ukuthi banesibophezelo isakhiwo yokwakheka inhliziyo futhi skeleton. Lesi sifo olubizwa ngokuthi i-syndrome ka "isandla-to-inhliziyo."

Kuyini lokhu?

Lesi sifo wadluliselwa ifa, ke ihlanganisa kombungu wemikhawulo engenhla futhi yesifo senhliziyo azalwa naso obuhlukahlukene. Kubalulekile ukuqaphela isifo ekuqaleni sokugcwaliseka kwaso. Ukuze wenze lokhu, afeze ukucwaninga ngofuzo. Abenzi kuphela ukuqinisekisa kwaleso sifo, kodwa futhi ukubikezela amathuba isifo ezizukulwaneni zayo.

Ultrasound luhlolo ekukhulelweni evumela ukutholakala komdlavuza usaqala yokuphazamiseka ukuthuthukiswa lwamathambo. Lapho izimpawu wabonisa yesifo olwenziwa vnutriplodnoe scan ongakazalwa ingane inhliziyo. Ngokuvamile lesi sifo ka Holt - Oram kunqunywa ngemva kokuzalwa kwengane. ukukhubazeka okusolisayo isakhiwo lwamathambo ahlolisisa yi wenhliziyo njengoba ngobucayi isifo kuncike ukubonakaliswa inhliziyo yalesi sifo.

ukukhubazeka azalwa naso lesi sifo

Libhekene kwezinso ku nokwakheka ibhodi lemisindo futhi uhlangothi, okuyinto avele ngakolunye uhlangothi noma kokubili ngasikhathi sinye. I degree of nokungathuthuki nezitho zomzimba ukusonteka lihlukile: kuba khona phalanges ezintathu eyodwa umunwe noma ngingekho ngokuphelele iminwe uma ezinkulu. Ngokuvamile, lokhu kwenzeka kanye iminwe esandleni sakhe sobunxele. Kukhona Ezimweni ezimbi kakhulu, uma kukhona hypoplasia we engaba, noma ukungabi ephelele yalo. Okuningi mancane amathuba okuthi bathi: tho nomunye iminwe, sternum ukusonteka, hypoplasia we clavicles kanye izindwani ehlombe, ugobile yomgogodla. izinguquko lwamathambo musa usongo ekuphileni komuntu. Kodwa kokunikezwa kwe-ikhono nemisebenzi yokusetshenziswa ethintekile isitho isifo kwenza ukuphila kube nzima.

Mayelana 85% eziguli uhlushwa yesifo senhliziyo azalwa naso: omncane uvule imbobo kanye stenosis evulekile yomthambo i-aorta we Umthambo yamaphaphu, ukuhlukumeza isakhiwo valve. Ngokuvamile wathola azalwa naso atrial septal isici. He is ezahlukene kobukhulu kusukela ngokulambisa lizwakale isici ebanzi yesibili, okuyinto umphumela ephethwe yisifo senhliziyo.

Autosomal ifa evelele

Lesi sifo libhekene:

• ukudluliswa njalo isifo kusuka kwesinye isizukulwane idluliselwe kwesinye.
• Uma isakhi esithile sisebenza kuyinto proyavlyaemostyu kakhulu, isifo akusho weqa isizukulwane, futhi wazilandela amalungu omkhaya emkhayeni ngamunye.
• Isakhi sidlulile kumzali siye enganeni. Ukukhethwa yisikhathi sokuqala kuye kwaba nezenzakalo lesi sifo emkhayeni ngenxa ukuguquka kwezakhi zofuzo nokuguqulwa, kamuva futhi adluliselwe umzali ogulayo enzalweni enempilo.
• Ezimweni eziningi lesi sifo wadluliselwa line elilodwa kwabazali.
• Akuyena wonke umuntu emndenini ngeke balizuze ifa isakhi sofuzo isifo: emalungwini omkhaya enempilo bazalwa inzalo ngaphandle izimpawu ezikhungathekisayo zalesi sifo.

• Uma umama wengane kanye nobaba zihlukile, noma okuphambene nalokho, omunye ubaba nomama zihlukile, umzali ezivamile nezingane kungaba ifa isifo.
• Kuvele autosomal imodi evelele ifa akuxhomekile umuntu okuqondene wobulili obuthile. Abesilisa nabesifazane ngokulinganayo abathintekayo isifo.

septal atrial

Uma kukhona noma liyimpumputhe, ukuthuthukisa yesifo senhliziyo azalwa naso, okungase isehlane noma kuhlangene nezinye izimo ngaphakathi inhliziyo. Atrial isici septal eba lapho kumiswa yokukhulumisana ivulekile is phakathi Atria ezimbili: kwesokudla noma kwesokunxele. Uma isiguli sine-syndrome isifo Holt - Oram, unesikhundla iphika, inhliziyo nokububula, ukukhathala anda futhi efanele ukuthuthukiswa wenyama, ukhona pallor kwesikhumba futhi yizifo njalo zokuphefumula. Yesifo senhliziyo azalwa naso odalwe lolu zokugula kwenzeka cishe ngo-5-15% eziguli, futhi abesifazane kwenzeka kabili njengoba ngokuvamile kunabantu.

Iqiniso lokuthi i-fetus ngenkathi esibelethweni, uku septum atrial imbobo evulekile okweqanda. Linikeza evamile kwegazi. Uma umntwana wakhe esezelwe, imbobo iningi izinsana uvala. Nakuba zikhona izikhathi lapho lokhu kungenzeki. Kodwa ukudedelwa igazi ngembobo encane ukuze umuntu engazizwa anomaly futhi akazange ngisho usola ukuthi unakho eyodwa. Uhlala buthule kuze yokuguga. Okunjalo kwezinso lezinceku njengoba isici atrial septal, kungaba ezinobukhulu obuhlukahlukene, bobunjwa atholakala ezingxenyeni ezahlukene ke.

ukukhubazeka atrial. izinhlobo

• I anomaly ukwahlukanisa eyinhloko uhlobo ukuthuthukiswa okungavamile ezihlalweni kanye ehunyushelwe engxenyeni engezansi lwesithathu eduze trikulyarnymi valve wakhe. Nazo ngokufanayo, kungaba sikhubazekile futhi singakwazi ukwenza umsebenzi wawo ahlose ukuba usetshenziswe. Kukhona amacala kwakhiwa uma usebenzisa wabo nge ezivamile atrioventricular septum valve.
• Ngo isici atrial septal kuyinto uhlangothi lwalo yesibili, okuyinto waphawula phezulu noma endaweni fossa okweqanda. Kulokhu, igazi engena ATRIUM kwesokudla ukusuka kwesokunxele. Ngokuvamile ngalinye lala masonto ukukhubazeka abizwa ngokuthi yesibili futhi kuphakama ukuntuleka ukutholakala izicubu ngodonga. Kodwa-ke unawo patency tekusebentisa yokwakheka yokungafaneleki.

Izimpawu sesimweni atrial

• Holt syndrome - Oram kuhlobane ngokuqondile yobudala isiguli, ubukhulu lwesici septal, usayizi yamaphaphu ukumelana semithambo. Iningi leziguli ezine-le nkinga bheka ephelele futhi ungenawo akhononde. Iqiniso lokuthi kungenzeka igazi kukhishelwa kusuka kwesokunxele kuya kwesokudla ngenxa ngokweqile ukuthi ukuzikhandla ngokomzimba noma ukukhathala, hhayi ngenxa inkinga. Ezimweni eziningi, nokububula inhliziyo lingezwakali khona. Lokhu kuyenzeka ngezinye izikhathi ephawulekayo atrial isici septal.

• Lokhu ngokuvamile anomaly iyona imbangela prolapse of valve mitral. Iziguli nalesi sifo kukhona umsindo kahle noma ukuchofoza.
• Uma usayizi kuyisici esikhulu kakhulu, umuntu has a tachycardia, iphika, inhliziyo idolo, lapho umzimba Umkhawulo ngakwesokudla. Kulula, usebenzisa iminwe yakho, ukucacisa okusizwa ukushaya we Umthambo yamaphaphu.
• Secondary septal isici Ezimweni ezingavamile, angase abe imbangela ephethwe yisifo senhliziyo. Senzeka 3-5% eziguli, ikakhulukazi ezinganeni ezingaphansi konyaka. Uma ungenalo ukuhlinzwa, ingozi yokufa mkhulu.

ukukhubazeka atrial. izizathu

Anomalies zenzeka lapho ngodonga ampofu samabanga aphansi noma zndokardialnye ezinamasondo e kwenkathi embryonic ukuthuthukiswa.

• Livela yokuphambana kungenxa ufuzo, ngokomzimba, ezemvelo kanye ezithathelwanayo.
• ukuthuthukiswa okungavamile ukwahlukanisa ingane esizalweni ngezinga elikhulu lokulahlekelwa imikhaya kabani izihlobo ugula yesifo senhliziyo azalwa naso.
• Izifo igciwane, elinesimo owesifazane okhulelwe kungabangela atrial septal isici. It rubella, i-herpes, inkukhu Pox, ugcunsula.
• Izidakamizwa utshwala ngesikhathi ekhulelwe.
• izinto ezilimazayo ekukhiqizeni, ngemisebe.
• Izinkinga ngenxa ubuthi, okwaphumela sokukhulelwa wengane ebucayini.

Atrial ukukhubazeka septal. ngezigaba

Esikhathini kusuka lesithathu kuya kwesonto lesishiyagalombili yokukhulelwa esibelethweni kubeka inhliziyo yengane. Uma ukwahlukanisa akuphelele phakathi neengcezu sokunene nesobunxele kwenhliziyo, lokhu kuholela yokuthi kukhona ukukhubazeka ku septum atrial, okuyinto ziyahlukahluka ngobukhulu, inombolo isikhundla izimbobo. Ukwahlukanisa yesifo senhliziyo azalwa naso simiswe ngalendlela lelandzelako:

• ukukhubazeka Primary zinezikhathi Ubukhulu eside: amasentimitha ezintathu kuya kweziyisihlanu. Indawo kwasendaweni yayo ingxenye engezansi septum, esemgwaqweni ngaphezu valve atrioventricular, ngenhla nje kubo. Abanaso emaphethelweni phansi.
• ukukhubazeka Secondary akhiwa ngenxa nokungathuthuki we ngodonga yesibili. Amancane ngosayizi futhi ngokwengxenye APC noma emilonyeni emithanjeni ozwakala ndawo. Kwenzeka ukuthi ukukhubazeka septum futhi ukuqothuka kwezinwele okungavamile kuphelile phakathi ATRIUM kwesokudla yamaphaphu emithanjeni ehlangana. Kulokhu, lo septum interatrial lugcinwa ezansi.
• Kukhona amacala lapho ukukhubazeka yemabanga akhona kanyekanye.
• septum Interatrial kungenzeka ukuthi ingabi khona. Ngenxa yalokhu, kuba ezivamile, ATRIUM yedwa, okuthiwa emithathu ekamelweni inhliziyo.

Yesifo senhliziyo azalwa naso. ukuhlola

Uma usana esolwa isifo kudinga esiphuthumayo ucingo wenhliziyo. Uchwepheshe uhlola izimpawu, ucubungula ubunjalo nokucindezelwa ishayela, isimo sawo wonke kwezitho izinhlelo. Ngemva kokuhlola ingane Kunenkolelo electrocardiogram, imisindo ephansi, phonocardiogram, x-ray zenhliziyo. Esimeni ifomu okunzima uphethwe isifo kombungu esizalweni is kwahambisana by enye inhlolovo - catheterization inhliziyo lapho injected ingaphakathi layo uphenyo.

Isikhathi esining impela, abazali ingane kufanele athukutheliswe yizwi ukuthi udokotela akazange ayembule lesi sifo esiyingozi lapho umama okhulelwe kulo lonke ukukhulelwa kwaba ebonwe kuye. Imbangela yesifo senhliziyo azalwa naso kungaba:

• Izinga eliphansi efaneleyo wezokwelapha.
• izifo azalwa naso akuzona njalo bakwazi ukuhlola ngesikhathi ngenxa izici of isakhiwo inhliziyo negazi izitsha umbungu.
• Ukungapheleli kwemishini yezokwelapha.

Izimbangela azalwa naso inhliziyo yayo yayinezinkinga ezicini

Azalwa naso inhliziyo yayo yayinezinkinga ezicini ezinsaneni kukhona ngenxa yokulimala yokwakheka inhliziyo valve yayo futhi imithambo yegazi, okungase kwenzeke esibelethweni. Ekuqaleni, angase engabonakali, futhi ingase yibe yinto exakayo ngomntwana ngokushesha emva kokuzalwa. Isifo senhliziyo - yisona esikhulunywa abantu abaningi kwasekuzalweni e izinsana, futhi i-akhawunti cishe 30%. Yimbangela njalo iningi ukufa. Izimbangela lwesici atrial septal:

• Kudluliselwe ngesikhathi sokukhulelwa, izifo ezibangelwa amagciwane ezifana rubella, isimungumungwane kanye nabanye.
• I nokuguquka kwezakhi kubangelwa ukusetshenziswa umama esizayo izidakamizwa, utshwala, i-nicotine.
• kwezinso abahlukahlukene chromosome amasethi abazali.
• Ukuchayeka ionizing emisebeni.
• Ukuntula izakhi trace kanye amavithamini ekudleni nokuthumba owesifazane owayezithwele.
• Imiphumela yemithi yezokwelapha embungwini.

Izimpawu yesifo senhliziyo azalwa naso

ezizalwa negciwane le nkinga zihlukile. Bangabaholi isikhumba, izindebe, ezindlebeni abe nombala bluish noma okwesibhakabhaka. Ngezinye izikhathi, kunalokho, ingane isikhumba ukuphaphatheka nokubanda imilenze abandayo. Lokhu kubizwa ngokuthi yi ezimhlophe isici izinsana. Kukhona amacala lapho ukulalela uchwepheshe ngokugqamile ezwa nokububula inhliziyo.

Isikhathi esining impela azalwa naso isitho isifo kungabonakali ngokushesha ngemva womntwana ozalwa. Iminyaka engu-10, ingane uyobheka ngokuphelele ziphilile. Kodwa-ke lesi sifo uzoqala ukubonisa ngendlela oluhlaza ebusweni noma blanching kwesikhumba. Iba ngeziphambeko obonakalayo ekuthuthukisweni ngokomzimba, kuyoba esifushane umoya.