Holt Vanakangana syndrome. Syndrome kuti "mumaoko-to-mwoyo"

Holt chirwere - Vanakangana - chirwere chakakomba autosomal nhaka mhando, iyo inozivikanwa nokuva maronda majini akawanda. Ndivo anokonzera anatomical nemamiriro mwoyo uye marangwanda. chirwere ichi inonzi urwere kuti "ruoko-to-mwoyo."

Chii?

chirwere ichi pachishandiswa nhaka, Chine kunosiyana malformations vaikudzwa wamativi uye vachiberekwa mwoyo chirwere. Zvakakosha kuti ticherechedze kuti chirwere mukutanga kwaro kukura. Kuti aite izvi, ubudise magene tsvakurudzo. Havana chete zvisimbiswe nechirwere, asi kufanotaura mukana wokuti chirwere kumarudzi ramangwana.

Ultrassom ongororo iri pamuviri achibvumira mangwanani kuonekwa kuti mhirizhonga munyika skeletal kukura. Kana akaratidza zviratidzo chirwere inoitwa vnutriplodnoe tarisei mwana mwoyo. Kazhinji urwere pakati Holt - Vanakangana atsunga pashure pokuberekwa vomwana. Kufungira kuremara ari skeletal mamiriro nyatsonzvera nokuda cardiologist sezvo kwokuomerwa hosha kunobva cardiac zvinoratidza syndrome.

Vakaremara chirwere

Dzinoratidzwa abnormalities ari nemamiriro honokono uye ruoko, anoonekwa kurutivi rumwe kana vaviri panguva kamwe. The mwero underdevelopment kuzviremadza deformation yakasiyana: ndiwo kuvapo phalanges matatu rimwe munwe kana zvachose ndikasavapo minwe kana guru. Kakawanda, izvi zvinoitika chete nezvigunwe paruoko rwake rworuboshwe. Kune Muzviitiko zvakaipisisa, kana paine hypoplasia yacho nharaunda, kana kushaya zvakakwana kwayo. Zvikuru kashoma kuti: fused nemumwe minwe, sternum deformation, hypoplasia pamusoro clavicles nepfudzi mashizha, curvature pamusoro nomuzongoza. Skeletal kuchinja regai vangangokukuvadza upenyu hwevanhu. Asi kutyora dzichipfekeka mano njodzi nhengo chirwere kunoita upenyu zvakaoma.

About 85% wevarwere vanotambura vachiberekwa mwoyo chirwere: kuderedza pamusoro mutsinga dzinofamba nemukaka uye isina kutsemuka stenosis pamusoro pulmonary tsinga, kutyora vharuvhu mamiriro. Kazhinji kuwanikwa vachiberekwa atrial septal kuremara. Iye zvakasiyana nekuomarara kubva haawanzotauri oneka kuti kuremara zvakawanda chesekondari, inova mugumisiro mwoyo kukundikana.

Autosomal zvakazara nhaka

chirwere ichi kunoratidzwa:

• Kugara kupararira chirwere kubva kuchizvarwa mumwe.
• Kana jini zvikuru proyavlyaemostyu, chirwere asingadi tisangosiya rudzi, uye akatsvaka mhuri nhengo dzemhuri imwe neimwe.
• Majini wabva mubereki mwana. Kusara ndiyo nguva yokutanga kwave zviitiko hosha mumhuri nokuda kwatangwa kunotouraya, iyo gare gare uyewo kubva mubereki anorwara kuti mwana utano.
• Muzviitiko zvizhinji maperembudzi pachishandiswa rwonzi nevabereki.
• Haasi munhu wose ari mumhuri vachagara nhaka chirwere Gene: mune utano vemumhuri vanoberekwa zvizvarwa pasina zviratidzo chirwere.

• Kana mwana amai uye baba zvakasiyana, kana ndiEzekieri, mumwe baba naamai vakasiyana, mubereki zvinowanzovapo vana vanogona nhaka chirwere.
• An autosomal chikuru kwadzinoita nhaka hakunei munhu chomumwe imwe chechikadzi. Varume nevakadzi vari zvakafanana sei chirwere.

atrial septal

Kana paine urema mariri, dzichiri vachiberekwa mwoyo chirwere, izvo zvinogona dzoga kana kubatanidzwa nemamwe ezvinhu mukati mumwoyo. Atrial septal urema hwapedyo kana muchikurukura achiumbwa pakati atria maviri: kurudyi. Kana murwere ane chirwere chirwere Holt - Vanakangana, ane kupfupika mweya, mwoyo vakan'un'una, vakawedzera kuneta uye kukakanganiswa kwomuviri, pane pallor ganda uye kakawanda noutachiona kufema. Vachiberekwa mwoyo chirwere kunokonzerwa zvokurwara ichi kunoitika munenge 5-15% wevarwere, uye vakadzi ruviri kakawanda kupfuura vanhu.

Chokwadi chokuti mudumbu vari mudumbu, riri atrial septum rakavhurika mugomba denderedzwa. Inopa muupenyu kweropa. Kana mwana akaberekwa, buri ruzhinji vachangoberekwa avhara. Dziripo nguva apo izvi hazviitiki. Asi chokubuda ropa kuburikidza yokutanga chiduku kuti munhu asingadi kunzwa anomaly uye havana kunyange vanofungidzira kuti ane. Anorarama chinyararire kusvikira pakukwegura. Zvakadai nhaka abnormalities sezvo atrial septal urema, rinogona siyana hukuru, zvitarisiko uye zvinowanika munzvimbo dzakasiyana-siyana nazvo.

Atrial kuremara. mhando

• The anomaly chezvinhu partition ane zvemamiriro kukura pamakusheni mutsa uye vemunyika panzvimbo dzapasi chikamu chake rechitatu pedo trikulyarnymi mavharuvhu. Ivowo, anogona kuva akaremara uye asingakwanisi kuita ayo aida basa. Pane zviitiko kana kuvashandisa achiumbwa ane nevakawanda atrioventricular septum vharafu.
• In atrial septal kuremara divi rayo chesekondari, riri akacherechedza pamusoro kana munharaunda yacho denderedzwa fossa. Panyaya iyi, ropa anopinda zvakanaka atrium kubva kuruboshwe. Kazhinji zvikanganiso izvi dzinonzi chesekondari uye muka kubva kushaya Kuwanikwa tishu partitions. Asi anoramba kushanda uye anatomical patency yacho kuremara.

Zviratidzo atrial urema

• Holt chirwere - Vanakangana nechokuita zvakananga makore murwere, kukura septal urema, kukura pulmonary vascular nemishonga. Varwere vakawanda vane mhosva iyi kutarisira utano zvakakwana uye regai kugunun'una. Chokwadi chokuti ropa anogona asunungurwa kubva kuruboshwe kuenda kurudyi nokuda kwazvo chaiko nesimba kana kuneta, kwete nemhaka zvakakanganisika. Kazhinji, mwoyo kutsutsumwa haina kunzwa. Izvi zvinomboitika pamwe zvaikosha atrial septal urema.

• anomaly Izvi kazhinji mhaka prolapse ari mitral vharuvhu. Varwere nechirwere ichi zvakanaka ruzha iri kana the clicks.
• Kana chakaremara saizi iri guru chaizvo, munhu ane tachycardia, kupfupika mweya, mwoyo ano, apo muviri muganhu ndokumonereka kusvikira kurutivi rworudyi. Zviri nyore, kushandisa zvigunwe zvenyu, kuona pulsation ari pulmonary tsinga.
• Secondary septal akaremara zvisingawanzoitiki zviitiko, zvingava chikonzero mwoyo kukundikana. It kunoitika muna 3-5% wevarwere, kunyanya vana pasi gore rimwe. Kana usina kuvhiyiwa, pangozi rufu kukuru.

Atrial kuremara. zvikonzero

Anomalies kuitika kana underdeveloped chepuraimari kana yechipiri partitions zndokardialnye rollers vari munguva embryo kukura.

• The panowanikwa kuremara nokuda kuvabereki, mumuviri, kwezvakatipoteredza uye zvirwere zvinhu.
• Zvemamiriro Kugadzirwa mwana partition ari mudumbu aine mukuru mwero pangozi mumhuri vane hama dziri chirwere mwoyo kurwara vachiberekwa.
• Zvirwere utachiona, dzinoratidzwa mukadzi pamuviri kunogona kukonzera atrial septal kuremara. It rubella, herpes, huku pox, njovhera.
• Zvinodhaka uye doro panguva yepamuviri.
• Zvinokuvadza ari kugadzirwa, irradiation.
• Matambudziko nokuda toxicity, zvakazoita gestation hwomwana maturo.

Atrial septal kuremara. kupatsanura

Munguva kubva rechitatu vhiki pamuviri mudumbu rechisere anoteya fetus mwoyo. Kana asina kukwana partition pakati kurudyi uye rworuboshwe sezvikamu zvomwoyo, ichi zvinotungamirira kuti pane kuremara ari atrial septum, izvo dzinosiyana kukura, nhamba uye nzvimbo mumakomba. Kupatsanura pakati vachiberekwa mwoyo chirwere sezvinotevera:

• Primary zvikanganiso vanoonekwa ne zvikuru kukura: matatu shanu masendimita. Nzvimbo yaro localization ndiyo rezasi chikamu septum, riri pamusoro atrioventricular mavharuvhu, chete pamusoro pavo. Havafaniri kuva pasi mucheto.
• Secondary zvikanganiso zviri kuumbwa nokuda underdevelopment pamusoro yechipiri partitions. Ndivo mupfupi uye zvayo chinokosha kana mumiromo pamhango mutsinga yacho. Zvinoitika kuti urema septum uye kudonha kupinda zvakanaka atrium Pulmonary mutsinga ikashandiswa. Panyaya iyi, iyo interatrial septum iri rakaramba nechepasi.
• Pane zviitiko apo nesekondari zvikanganiso varipo panguva imwe chete.
• Interatrial septum kungava vasipo. Izvi zvinoguma nevakawanda, sole atrium, unonzi-yokuvata matatu mwoyo.

Vachiberekwa mwoyo chirwere. Diagnostics

Kana achangoberekwa vaifungidzirwa chirwere kunoda kukurumidza kufona cardiologist. Nyanzvi anoongorora zviratidzo, Anoongororawo hunhu uye kumanikidzwa kupomba, mamiriro zvomukati zvose uye hurongwa. Pashure pokutsvaga mwana inoitwa unonzi, electrocardiograph, Ultrasound, phonocardiogram, ekisireyi mwoyo. Panguva chiitiko nomwaka chimiro chirwere nechirwere pakati vachiberekwa malformations ari kuzadzikiswa neimwe ongororo - cardiac catheterization kana jekiseni kupinda kwayo mhango vachiongorora.

Kakawanda, vabereki mwana akagumbuka kuti chiremba haana kuzivisa chirwere ichi ngozi apo amai vanepamuviri rose nhumbu yaiitwa maari. The chinokonzera vachiberekwa mwoyo chirwere unogona kuva:

• Low pamwero zvokurapa professionalism.
• Vachiberekwa zvirwere havasi nguva dzose kukwanisa rokuongorora panguva nokuda peculiarities ari nemamiriro mwoyo uye ropa nemidziyo azvarwa.
• Kusakwana yezvokurapa michina.

Zvinokonzera vachiberekwa mwoyo urema

Vachiberekwa mwoyo zvikanganiso zviri vacheche inokonzerwa anatomical kuremara kwemwoyo uye dzayo mavharuvhu nemidziyo ropa, zvinogona kuitika mudumbu. Pakutanga, vangava asingaoneki, uye anogona kuvhiringidza mwana pakarepo pashure pokuberekwa. Mwoyo chirwere - ndicho pakupona vachangoberekwa, uye nhoroondo inenge 30%. Ndivo chikonzero chinonyanya kakawanda rufu. Zvinokonzera atrial septal urema:

• Kutamiswa panguva pamuviri, nemavhairasi zvirwere zvakadai rubella, gwirikwiti nevamwe.
• The majini mutation kunokonzerwa nokushandisa amai ramangwana zvinodhaka, doro, chikakananda.
• Various abnormalities pamusoro chromosome anoita vabereki.
• Kuonana ionizing nemwaranzi.
• Kushayikwa zvisaririra zvinhu uye mavhitaminzi zviri zvokudya mukadzi pamuviri.
• Migumisiro kurapwa azvarwa.

Zviratidzo vachiberekwa mwoyo chirwere

Akazvarwa vacheche pamwe chirwere zvakasiyana. Ndivo ganda, miromo, hura vane rinokwanisa kucheneruka kana mutema ruvara. Dzimwe nguva, nekusiyana, mwana ganda hapana uye makumbo inotonhora. Izvi zvinonzi chena urema vachangoberekwa. Pane zviitiko apo kuteerera mazvikokota zvakajeka anonzwa mwoyo kutsutsumwa.

vachiberekwa Kakawanda nhengo chirwere Vasingazvioni pakarepo pashure nomwana akaberekwa. Kwemakore 10, mwana vachatarira gwindiri. Asi zvino chirwere uchatanga kuratidza muchimiro zvitema mukutarisana kana blanching ganda. Iva kuoneka zvarakasiya mu kwomuviri, pachava pfupi kufema.