I kut leh thinlungah harsatna i nei em? Holt-Oram Syndrome a ni mai thei!

A chang chuan kan ngaihtuah phak loh natna kan nei thin a ni lawm ni? Vawiin hian kan sawi dawn a, a natna hi a tlem hle a, mahse hriat a hlawh hle. I kut, i kutphah emaw, i kut emaw a thil dik lo awm rualin i thinlungah harsatna engemaw zat i neih chuan a chhan chu ‘Holt-Oram Syndrome’ a ni thei. Lungngai suh, he thu hi chipchiar takin sawi ila.

Holt-Oram Syndrome hi eng nge ni?

A awlsam zawngin, Holt-Oram syndrome hi a awm lo hle a, pianpui atanga lo chhuak a ni . I kut ruh, kutphah leh kut ruh bakah i thinlung a nghawng ber a ni. Ngaihtuah teh, mi ṭhenkhat chuan kut pakhat ruhah thil danglam engemaw zat an nei thei a ni. A sir khatah chauh a awm thei a, a sir lehlamah pawh a awm thei bawk. Mi thenkhat chuan kut zungtang pakhat an tlachham mai thei a, an kutpui chu kut zungtang dang ang bawka sei a ni thei bawk. Chu mai ni lovin, thinlung lam harsatna nen a lo thleng thei bawk. Heng thinlung natna te hi thinlung insiam danah chhiatna a awm thei a, a nih loh leh thinlung thawkna control tu electrical impulse-ah thil dik lo engemaw zat a awm thei bawk. He natna hi hming dang engemaw zatin an ko bawk a, entirnan `(Atrio-digital dysplasia)`, `(Cardiac-limb syndrome)`, emaw `(Heart-hand syndrome, type 1)`. Mahse a hming hman tam ber chu Holt-Oram Syndrome a ni.

Hetiang natna lan chhuah dan hi engte nge ni?

Holt-Oram Syndrome symptoms hi mi hrang hrangah a inang lo thei . Mi thenkhat tan chuan heng symptoms te hi hmuh tur khawpin a lang lo mai thei. Chutiang hunah chuan doctor-te chuan test bik, `(X-ray)` test, `(CT scan)` (CT scan) emaw `(MRI)` (MRI) hmang chauhin dik takin an hre thei a ni.

Ruh kaihhnawih harsatna (kut, kut) .

Holt-Oram syndrome i neih chuan i kut ruh pakhat tal chu a lo thang tha lo mai thei . Chu bakah ruh lama harsatna dang i nei thei bawk a, chungte chu:

• Collarbone emaw shoulder blade emaw a thil dik lo awm.
• Kut a inthen darh. Kut zungtangte pawh hi a inzawm khawm angin a lang thei bawk.
• A kut natna chu a taka tihzauh emaw, a rotate emaw theih loh.
• Ruhro (spine) curvature, hunching (kyphosis) emaw, a sir lam hawia curvature (scoliosis) emaw ang chi.
• Ke ruh lian tak awm lohna emaw, ke ruh lian tak chu ke ruh dang aiin a sei zawk a, a dinhmun a inang lo emaw a nih chuan.
• Forearm-a ruh thenkhat chauh awm emaw, ruh awm lohna emaw.
• Upper arm ruh te a lo thang tha lo.

Naupang tê tê a lo pian hian a kut pakhatah kutpui a nei lo va, a nih loh leh kut zungtang dangte nên a danglam a ni tih han ngaihtuah teh. A nih loh leh kut ben dik a har. Hengte hi ruh lama harsatna kan sawi tak thenkhatte chu an ni.

Lung lam harsatna a awm

Holt-Oram Syndrome natna nei a niMi tam tak chuan thinlung lam natna chi khat emaw an nei a. Chung zinga langsar ber chu thinlung veilam leh dinglam inthenna bang chhunga khur, septum an tih hi a ni. Hole hi chi hnih a awm a, chungte chu:

• Atrial septal defect: Hei hi thinlung chunglam chamber pahnih (atria) inkar a ni.
• Ventricular septal defect: Hei hi thinlung hnuai lama chamber pahnih (ventricles) inkar a ni.

A awlsam zawngin, thinlung hian pindan pali a nei a. A chung lamah pahnih leh a hnuai lamah pahnih. Heta thil thleng chu heng chamber inkar bang-ah hian khur a lo awm a ni. Heng khur te hi a lian leh te a zirin a natna lan chhuah dan a inang lo.

Mi thenkhat chuan cardiac conduction disease an nei thei bawk. Hei hian thinlung rhythm control tu electrical impulse te a nghawng a ni. Hei hian heart rate pangngai lo taka slow (bradycardia) emaw heartbeat chak leh mumal lo (atrial fibrillation) emaw a thlen thei a ni. Hetiang dinhmun hi pian tirh lamah a awm thei a, hun kal zelah pawh a lo awm thei bawk. Chuvangin i medical team tan chuan i dam chhung zawngin hei hi an enfiah a pawimawh hle.

Holt-Oram syndrome nena inzawm thinlung natna hian a lan chhuah dan te pawh a thlen thei bawk:

• Hlawhtlin lohna.
• Chauh lutuk, hah lutuk.
• Lung chhunga thisen sang (pulmonary hypertension).
• Thâwk a tawi.
• Thâwk a tawi.

Engvangin nge Holt-Oram Syndrome hi a lo awm?

A tam zawkah chuan Holt-Oram syndrome thlentu ber chu `TBX5` tih gene inthlak danglamna, a nih loh leh mutation vang a ni. He `TBX5` gene hian nausen pian tirh laia ke leh ke chunglam (kut, kut) te thanlenna atana mamawh protein a siam chhuak thin. Tin, he protein hi thinlung chu chamber palia a inthen nan a pawimawh hle bawk. A dik tak chuan kan taksaa thil awm zawng zawng hi gene-in a thunun vek a ni. Chuvangin, heng harsatnate hi he gene bik ah hian inthlak danglamna a awm hian a lo awm thin.

He `TBX5` gene mutation hi thlah khat atanga thlah dang (inherited) . Chumi awmzia chu nu emaw pa emaw pawhin he natna hi a neih chuan naupang pawhin a vei theihna chance a awm tihna a ni. Mahse, a tam zâwk chuan, he dinhmun hi chhûngkaw zînga tu mahin he natna hi an vei tawh loha gene mutation thar a lo awm hian a lo awm ṭhîn . Chumi awmzia chu chhungkaw history engmah nei lovin a thleng thei tihna a ni.

Mahse, a chang chuan Holt-Oram syndrome vei te hian TBX5 gene-a mutation hi an hmu thei lo. Heng mite hian engtin nge he natna hi an lo vei tih hi Scientist-te chuan an la hre chiang lo hle. TBX5 nena thawk dun protein dangte mutations vang pawh a ni thei niin an ngai.

Engtin nge he natna hi dik taka hriat theih a nih? (Diagnosis) tih a ni.

Doctor chuan taksa enfiahna leh chhungkaw chanchin a neih hnuah Holt-Oram syndrome hi a ringhlel thei a ni. Tichuan, an dinhmun finfiah nan test engemaw zat an ti thei a, chungte chu:

• Medical imaging: I kut, i kutphah leh i kutphah X-ray ang chi thil.
• Echocardiogram (Echocardiogram - echo): Hei hian thinlung thlalak a la a, a structure emaw pumping action-ah harsatna a awm leh awm loh en a ni. Thinlung ultrasound scan ang mai a ni.
• Electrocardiogram (ECG emaw EKG): Hei hian i thinlung electrical activity a teh a ni. Hei hian i thinlung thawk rhythm leh speed check tihna a ni.
• Genetic testing: He test hi genetic mutation a awm leh awm loh finfiah nan tih a ni. Hei hi thisen sample lak atanga tih a ni tlangpui.

Mi thenkhat chu naute an nih laiin Holt-Oram syndrome an vei tih hmuhchhuah a ni . Midangte chu nakin lawkah an vei tih hmuhchhuah an ni bawk . Hei hi thinlung natna an neih hunah emaw, damdawi lam test dang neihnaah ruh dik lo a awm tih hmuhchhuah a nih pawhin a thleng thei. Entîr nân, mi pakhat chu thawk hah chungin doctor hnênah a kal a, rang takin a thinlungah khur emaw, a kut ruh dik lo emaw a hmuchhuak thei a ni.

Hei hi enkawl dan tur a awm em? (Tihdamna)

Dik tak chuan Holt-Oram Syndrome hi tunah hian damdawi a la awm lo . Mahse, enkawlna chu eng symptom nge i neih leh a nasat danah a innghat a ni. Lungngai suh, i symptoms enkawl dan tur leh i nun awlsam zawk nan thil tam tak i tih theih a awm.

Mi thenkhat chuan symptoms na lo tak tak an nei a, enkawlna bik an mamawh lo. Mahse midangte chuan damdawi lam enkawlna leh enkawlna nasa tak an mamawh a ni . Enkawlna tum ber chu kut leh kut hman tam thei ang bera siam that leh thinlunga harsatna awm thei tur ven a ni.

Enkawlnaah hian a hnuaia mite hi a tel thei ang:

• Antiarrhythmic damdawi hi heart rate leh rhythm control thei damdawi a ni.
• Heart rate leh rhythm control nan medical device, pacemaker ang chi dah luh.
• Lung chhunga khur siam that nan surgery neih a ni.
• Brace vuah emaw, operation emaw hmanga ruh dik lo siamthat.
• Kut emaw kut emaw hmun awm lo thlak nan artificial parts (prosthetics) dah.

Hetiang natna vei hian specialist tam tak tanpuina a mamawh thei a ni. Chumi awmzia chu doctor pakhat chauh ni lovin team pakhatin enkawlna a pe tihna a ni. He team hian:

• Cardiologist leh cardiac surgeon: Lung natna lama mithiamte.
• Orthopaedic surgeon-te: Ruh natna lama mithiamte .
• Naupang enkawltu: Naupang natna enkawltu Doctor .
• Occupational therapist: Mite chu nitin hna, ei leh in leh ziak awlsam zawka thawk thei tura puitu te.
• Physical therapist: Taksa peng hrang hrang, thil danglam bik neite tichak tura puitu leh an hnathawh thatna tura puitute.

Tunah chuan en teh, heng mi zawng zawngte puihnain damlo chuan nun tha ber neih theihna tura a mamawh tanpuina a hmu a ni.

Hetiang dinhmun nen hian nun chu eng ang nge ni ang? (Outlook/Prognosis) tih a ni.

Holt-Oram Syndrome vei tan chuan prognosis hi a danglam hle a ni . Chu chu mi zawng zawng hi kan inang vek lo tihna a ni. Mi thenkhat chuan an kutphah ah hian thil danglam tenau te chauh an nei a, taksa lama harsatna awm lovin an thawk tha thei hle. Mahse midangte chuan ruh lama harsatna lian tham an nei thei bawk .

Mahse, he natna vei zinga 75% vel chuan an thinlungah hian pianpui structural defect an nei a ni . Mi thenkhat chuan symptoms an nei lo va, monitoring atan cardiologist pan fo a ngai chauh a ni. Amaherawhchu, thinlung lam chhiat \henkhat chu nunna atana hlauhawm tak a ni thei a, zai a ngai \hin. Chuvang chuan doctor thupek dik taka zawm a pawimawh hle.

Hei hi ven theih a ni em?

Holt-Oram Syndrome hi genetic mutation avanga lo awm a ni tlangpui a, chuvangin a ven theih loh vek a ni . He natna hi i neih a, naupai i nih chuan i fa hian mutation hi a pass theihna chance 50% vel a nei a ni . Chumi awmzia chu naupang pahnih zinga pakhat velin he natna hi an nei dawn tihna a ni. Mahse, nau neih hmaa genetic testing hmangin mutation hi a hmuchhuak thei a ni. I doctor chuan i chhungte hnai berte tan pawh genetic counselling neih a rawt thei bawk. Hei hian chhungkaw member dangte chu he natna chungchang hi a zirtir ang a, a tul chuan test neihpui turin a kaihruai bawk ang.

Chhungkaw angin engtin nge he dinhmun hi kan insiamrem?

Taksa lam inthlâk danglamna a awm chuan, a bîk takin naupangteah chuan an zak thei a, mahni inngaihsakna pawh an hniam thei bawk . An khawtlang inlaichinna pawh a nghawng thei bawk. Hetiang hunah hian i tanpui theih tur thil thenkhat chu hetiang hi a ni:

• Mental health professional hmu rawh : I fa chuan an rilru natna hriatthiam leh enkawl dan tur a dawng thei.
• I fa chu a dinhmun chungchâng chu zalen takin sawipui rawh: Thumal awlsam tak hmangin, an hriatthiam theih tûr angin hrilhfiah rawh. "I kut ah hian danglamna tlem i nei a, i pianpui thil a ni a, i sualna a ni lo," tih ang chi te sawi rawh.
• Naupang chu a bula awmte hriattir rawh: Zirtirtu te, ṭhiante leh chhungte hnenah a dinhmun chu hrilh la, chutiang chuan anni pawhin naupang chu an thlawp thei ang.
• Support group emaw national advocacy organization emaw zawm rawh: Hei hian nangmah ang bawka thil tawk mek chhungkaw dangte nena inhmuhna tur leh i thil tawn te sawipui turin a pui ang che.
• I fate chu sikulah zirna leh midangte nena inpawh taka awm theihna tura pui turin ruahmanna siam la, tihduhdahna laka fihlim rawh: Zirtirtu te nen inbiakna nei la, hei hi chiang rawh.
• Hemi chungchang hi mi pakhatin a zawh che chuan zawhna chhan dan practice rawh: Entirnan, "Mi dang zawng aiin kut ruh danglam tak neiin ka piang a ni," tih ang chi chhanna awlsam tak pek hi i practice thei ang.

Holt-Oram syndrome hi kut, kutphah leh kut ruh dik lo a thlen bakah thinlung natna a thlen bawk. I fain he syndrome hi a vei a nih chuan, doctor-te chuan a kut leh kut hnathawh ṭhat dân tûr an rawt thei ang . Chhungkaw member dangte pawh an screen thei a, hei hian thinlung lam harsatna avanga harsatna lo thleng tur venna kawngah a pui thei a ni.

A tawp berah chuan hriat reng tur (Take-Home Message) .

Holt-Oram Syndrome hi natna khirh tak leh hmuh tur awm lo tak a ni. Mahse, chu chu hriat reng a pawimawh a, a bîk takin i chhûngkuaa mi tu emaw chuan sawifiah theih loh kut emaw, thinlung emaw lama harsatna a neih chuan . He natna hi i hriat hma poh leh i hmachhawn theihna tura i mamawh enkawlna leh puihna i hmuh a awlsam zawk tih hre reng ang che.

Mahni chauha inhriat ngai suh. Doctor te, therapist te, leh support group te puihnain he natna hi hlawhtling takin i tuar thei a ni. A bulpui ber chu damdawi lam thurawn dik tak zawm a, rilru tha tak pu reng hi a ni.

Hemi chungchanga zawhna dang i neih chuan doctor nen inbiakna neih hreh suh. I mamawh zawng zawng an pe vek ang che.

` Holt-Oram Syndrome, kut dik lo, thinlung natna, genetic mutations, nau piangsual, ruh lama harsatna nei