Marfan Syndrome ne Wo Koma: Momma Yɛnka Eyi Ho Asɛm!

Ebia woahu nnipa a wɔware kɛse, wɔn akwaa atenten, na wɔn ho yɛ hare sen afoforo. Obiara wɔ saa tebea yi, nanso ɛnyɛ yare. Nanso ɛtɔ mmere bi a, nipadua a ɛte sɛɛ betumi ayɛ awosu mu tebea bi a wɔfrɛ no Marfan Syndrome ho sɛnkyerɛnne . Eyi yɛ tebea a ɛba bere a ntini a ɛka bom wɔ yɛn nipadua mu no ntumi nnyin yiye no. Sɛ yɛbɛka no tiawa a, saa ntini a ɛka bom yi na ɛma yɛn nipadua no afã horow no bom na ɛma ɛyɛ den. Sɛ eyinom yɛ mmerɛw a, ebetumi aka nipadua no afã horow pii, titiriw koma, aniwa, mogya ntini, ne nnompe nhyehyɛe . Ɛnnɛ, yɛbɛka sɛnea tebea a wɔfrɛ no Marfan Syndrome yi ka koma no ho asɛm.

Ɔkwan bɛn so na Marfan Syndrome ka koma no?

Sɛ wowɔ Marfan syndrome a, koma no afã atitiriw abien na ɛka wo kɛse.

1. Aorta: Eyi ne mogya ntini titiriw a ɛsõ sen biara a ɛde mogya a oxygen pii wom fi yɛn koma mu kɔ nipadua no nyinaa mu. Ɛte sɛ paipu kɛse a ɛde nsu fi nsukorabea kɔ wo fie.

2. Koma mu ntini: Eyinom ne afã horow a ɛyɛ adwuma te sɛ apon a ɛda adan a ɛwɔ koma no mu ne ntini atitiriw a ɛde mogya fi koma no mu no ntam. Wɔhwɛ hu sɛ mogya no sen kɔ ɔkwan biako pɛ so.

Afei momma yɛnhwɛ eyinom mu biara wɔ ɔkwan soronko so nhwɛ nea ɛba.

Dɛn na ɛto aorta no?

Marfan syndrome ma ntini a ɛka bom a ɛwɔ koma no afasu mu no yɛ mmerɛw. Te sɛ rɔba afiri dedaw bi no, ɛhwere n’ahoɔden ne nea ɛyɛ den. Eyi betumi de ɔhaw atitiriw abien aba:

• Aortic dilation: Aorta no fi ase trɛw nkakrankakra na ɛyɛ kɛse.
• Aortic aneurysm: Wɔ mmeae bi no, koma no fasu yɛ mmerɛw na etumi puw kɔ abɔnten te sɛ balloon.

Fa no sɛ, saa ntini a ɛma mogya tu yi te sɛ sakre tae a ɛpue fi baabi biako bere a afiri no mu yɛ mmerɛw no.

Titiriw no, koma no fã a ɛbɛn koma no kɛse, a wɔfrɛ no `aortic root`, ne fã a ɛtaa yɛ kɛse anaa ɛtrɛw wɔ saa kwan yi so wɔ nnipa a wɔwɔ Marfan syndrome mu. Eyi yɛ tebea a asiane wom mmom, efisɛ sɛ saa `aneurysm` yi nyin kɛse na ɛpae (`aortic dissection` anaasɛ ɛpae) a, ebetumi de nkwa ato asiane mu.

Tebea afoforo te sɛ Ehlers-Danlos yare, Loeys-Dietz yare, bicuspid aortic valve, ne Turner syndrome nso betumi ama koma no atrɛw, nanso ebetumi aba wɔ koma no afã afoforo.

Dɛn na ɛba koma no mu ntini ahorow no so?

Marfan syndrome nso betumi de ɔhaw ahorow aba koma no mu ntini ahorow no so. Sɛ saa ntini ahorow yi ntumi nyɛ adwuma yiye a, ɛsɛ sɛ koma no yɛ adwumaden kɛse na ama mogya no akɔ. Bere kɔ so no, eyi betumi ama obi koma atu.Ebetumi akɔ ɔkwan biara so. Wohu valve nyarewa atitiriw abien a ɛne Marfan syndrome wɔ abusuabɔ:

• Aortic valve regurgitation: Sɛ valve a ɛda aorta ne koma no benkum fam dan (benkum so ahurututu) ntam no ntumi nto mu yiye a, mogya a wɔde pɔmpɛ no bi san kɔ koma no mu. Ɛte sɛ faucet a ɛretu.
• Mitral valve prolapse: Mitral valve a ɛwɔ soro dan (benkum so atrium) ne ase dan (benkum so ventricle) ntam wɔ koma no benkum so no ntoto yiye, na soro dan no pue kɔ abɔnten. Ɛtɔ mmere bi a eyi betumi ama mogya akɔ akyi (mitral regurgitation).

Komayare abu so dɛn wɔ nnipa a wɔwɔ Marfan yare no mu?

Nokwarem no, nnipa a wɔwɔ Marfan yare no wɔ asiane kɛse mu sɛ wobenya komayare. Nhwehwɛmu ada no adi sɛ nnipa du biara mu akron a wɔwɔ Marfan yare no benya ɔhaw bi wɔ wɔn koma ntini anaa aorta no ho. Ɛno nti na ɛho hia sɛ wohu eyi no.

Dɛn ne Marfan syndrome ho sɛnkyerɛnne a ɛka koma no?

Sɛ wowɔ Marfan syndrome, te sɛ aortic aneurysm anaa valve yare a, ebia wubehu sɛnkyerɛnne ahorow bi. Nanso, nnipa binom betumi anya saa tebea horow yi a wonni sɛnkyerɛnne biara. Ɛno nti na aduruyɛ mu nhwehwɛmu ho hia no.

Eyinom ne sɛnkyerɛnne ahorow a wobetumi ahu wɔ ɔkwan a ɛkɔ akyiri so:

• Koko mu yaw anaa akyi akyi yaw
• Mogya a wɔfe (eyi yɛ sɛnkyerɛnne a asiane wom kakra) .
• Ɛyɛ den sɛ wobɛmene aduan (sɛ koma a ayɛ kɛse no repiapia aduannoa no a ) .
• Sɛ wote nka sɛ wo ho ayɛ wo yaw anaasɛ wo ti ayɛ hare
• Ɔbrɛ anaa mmerɛwyɛ a wɔte nka kɛse
• Koma a ɛbɔ a ɛnteɛ (koma a ɛbɔ) .
• Ɛnne no a ɛyɛ den (sɛ koma no mia ntini bi a ɛka ɛnne nhama no ho a) .
• Ɔhome a ɛyɛ den , titiriw bere a woabrɛ anaa woada fam no
• Swelling , titiriw wɔ nan ne nansoaa mu
• Wheezing (whistling) bere a worehome no

Fa no sɛ wowɔ w’adamfo bi a ɔware paa na ɔyɛ teateaa. Ɔtaa nwiinwii sɛ ne koko yɛ no yaw na ɛyɛ den ma no sɛ ɔbɛnantew . Sɛ saa a, ɛbɛyɛ papa sɛ wobɛkɔ oduruyɛfo nkyɛn akɔhwɛ sɛ ɛne Marfan yare no wɔ abusuabɔ anaa.

Dɛn na ɛma Marfan syndrome ka koma no?

Sɛnea yɛadi kan aka no, Marfan syndrome yɛ ntini a ɛka bom yɛ adwuma.Wɔnhyehyɛe no yiye. Wohu ntini a ɛka bom a ɛte apɔw wɔ yɛn nipadua mu baabiara. Ɛma akwaa ne mogya ntini ahoɔden, nsusuwii, na ɛyɛ mmerɛw. Saa ntini a ɛka bom yi wɔ koma no afasu ne mogya ntini ahorow mu, titiriw aorta no, ne koma no mu ntini ahorow mu.

Sɛ saa ntini a ɛka bom yi yɛ mmerɛw esiane Marfan yare nti a, ɛhwere ahoɔden ne nea ɛyɛ den. Eyi ma koma no trɛw na ɛho ahonhon, na entumi nnyina mogya no nhyɛso ano. Eyi nso ma koma no mu ntini ahorow no yare na entumi mmue anaasɛ entumi nto mu yiye.

Koma mu nhwehwɛmu bɛn na ɛboa ma wohu Marfan yare no?

Ɛtɔ mmere bi a, ebetumi ayɛ den sɛ wobehu Marfan yare no, efisɛ ɛsono sɛnea yare no kyerɛ no, na ebetumi asuasua tebea afoforo de. Nnipa dodow no ara hu sɛ wɔwɔ bi bere a wɔyɛ mmofra anaa wɔanyinyin nkutoo.

Sɛ oduruyɛfo bi susuw sɛ wowɔ Marfan syndrome a, wɔbɛyɛ nneɛma te sɛ:

• Wɔbɛyɛ nipadua mu nhwehwɛmu a edi mũ . Wɔbɛhwɛ wo tenten, wo mu duru, wo nsa ne wo nan tenten, wo moma so nsusuwii, w’ani, ne wo honam ani hwɛbea.
• Wobebisa w'abusua aduruyɛ ho abakɔsɛm . Wɔbɛhwɛ sɛ ebia obi wɔ w’abusua mu anya Marfan syndrome anaa sɛnkyerɛnne a ɛte saa ara anaa.
• Wɔhyɛ sɛ wɔnyɛ scan titiriw pii (`imaging tests`) a ɛhwehwɛ koma no mu . Wɔn titiriw ne:
• Echocardiogram (Echo): Eyi ma wuhu koma ne mogya ntini no kɛse, ne nsusuwii, ne sɛnea ɛyɛ adwuma pefee, te sɛ koma no mu ultrasound scan.
• Electrocardiogram (EKG): Eyi kyerɛ sɛnea koma no mu anyinam ahoɔden yɛ adwuma, kyerɛ sɛ, sɛnea koma no bɔ denneennen.
• Awosu mu nhwehwɛmu: Wobetumi ayɛ nhwehwɛmu yi de akyerɛ sɛ ebia wowɔ awosu mu nsakrae (wɔ FBN1 awosu mu nkwaadɔm mu) a ɛde Marfan yare no ba anaa.

Dɛn ne ayaresa ahorow a wɔde di komayare a Marfan yare de ba no ho dwuma?

Ɛwom sɛ wontumi nsa Marfan yare no koraa de, nanso ayaresa ahorow wɔ hɔ a wɔde siw nkɛntɛnso a enya wɔ koma no so no so na wɔasiw nsɛnnennen a emu yɛ den ano. Eyinom wɔ ahorow abien: ayaresa a ɛnyɛ oprehyɛn ne oprehyɛn.

Oduruyɛfo betumi akamfo akyerɛ sɛ wɔnyɛ oprehyɛn wɔ nsɛm a edidi so yi mu:

• Sɛ wo koma ntini (aorta) no ntwemu yɛ sɛntimita 5 (bɛyɛ nsateakwaa 1.97) anaa nea ɛboro saa a.
• Sɛ koma no bɔ kɔ soro sɛntimita 0.5 (bɛyɛ nsateakwaa 0.197) anaa nea ɛboro saa wɔ afe biako mu a (wɔfrɛ eyi `ntrɛwmu ntɛmntɛm`).
• Sɛ wo mogya abusuafo (abusua mufo a wɔwoo wɔn) ayɛ oprehyɛn a ɛte sɛɛ (ebia esiane awosu mu nkɛntɛnso nti, ebia ɛho behia sɛ wɔyɛ oprehyɛn no wɔ ne kɛse ketewaa bi mpo mu).

Mpɛn pii no, nnipa a wɔn nipadua yɛ nketewa no mogya ntini nketenkete, enti sɛ ne kɛse sua mpo a, ebia ebehia sɛ wɔyɛ wɔn oprehyɛn.

Ayaresa a ɛnyɛ oprehyɛn

Eyinom ne anammɔn a edi kan a wɔfa so di Marfan yare no ho dwuma.

• Asetra mu nsakrae: Akyinnye biara nni ho sɛ ɛsɛ sɛ wokwati dwumadi ahorow a ɛde nhyɛso kɛse ba koma no so.
• Ɛnyɛ papa sɛ wobɛyɛ nneɛma te sɛ nneɛma a emu yɛ duru a wobɛma so anaasɛ wobɛpia.
• Agumadi a ɛwɔ nkɛntɛnso kɛse te sɛ bɔɔlbɔ, rugby, ne akuturukubɔ mfata.
• Wo ne wo duruyɛfo nkasa na woahu apɔw-mu-teɛteɛ a asiane biara nni ho na ɛfata wo.
• Nnuru a Wɔde Yɛ:
• Nnuruyɛfo kyerɛw nnuru a wɔfrɛ no `Angiotensin II receptor blockers (ARBs)` anaa `beta-blockers` . Eyinom boa ma koma ntini no trɛw ntɛmntɛm na ɛhwɛ mogya mmoroso so.
• Koma mu mfoniniyɛ mu nhwehwɛmu a wɔyɛ no daa :
• Ɛsɛ sɛ oduruyɛfo hwɛ sɛnea koma no kɛse te ne sɛnea ntini ahorow no te no daa. Wobetumi de mfonini ahorow te sɛ `transthoracic echocardiography (Echo)`, `kɔmputa so tomographic angiography (CTA)`, anaa `magnetic resonance angiography (MRA)` ayɛ eyi.
• Saa nhwehwɛmu ahorow yi tumi hu nsakrae a ɛba koma no mu ansa na apaapae (dissection).

Oprehyɛn a wɔde sa yare

Ɛtɔ mmere bi a, wontumi mfa nnuru ne asetra mu nsakrae nkutoo nni koma ne ntini mu haw ahorow so. Ɛno ne bere a ɛho hia sɛ wɔyɛ oprehyɛn.

Botae titiriw a ɛwɔ koma oprehyɛn a wɔyɛ ma Marfan yare no mu ne sɛ wobesiesie koma no fã bi a ayɛ mmerɛw, ayi afi hɔ na wɔde afiri a wɔde ayɛ adwuma ahyɛ mu, anaasɛ wobesiesie koma no mu ntini a asɛe anaasɛ wɔde foforo asi ananmu.

Oprehyɛn ahorow yi botae titiriw ne sɛ wobesiw tebea horow a egye ntɛmpɛ a ɛde nkwa to asiane mu te sɛ aortic dissection ano.

Mpɛn pii no, wɔyɛ oprehyɛn ahorow yi ho nhyehyɛe na wɔyɛ no da a wɔahyɛ ato hɔ (oprehyɛn a wɔpaw). Nanso, sɛ ahrawa mu ntini bi mu paapae mpofirim anaasɛ ɛpaapae a, ɛsɛ sɛ wɔyɛ no sɛ adeyɛ a egye ntɛmpɛ.

Koma oprehyɛn atitiriw pii wɔ hɔ a wɔyɛ ma Marfan yare no:

• Aortic root replacement: Eyi ne oprehyɛn a wɔtaa yɛ efisɛ koma no fã yi taa hohoro anaasɛ ɛtrɛw.
• Aortic valve a wosiesie anaasɛ wɔsesa.
• Nsiesiei a ɛwɔ ntini a ɛbɛn koma no mu a ɛyɛ kurukuruwa (`Ascending aortic aneurysm repair`).
• Mitral valve a wosiesie anaasɛ wɔsesa.

Koma ho oprehyɛn ho ɔyaresafo no ne wo besusuw ho na wasi oprehyɛn a eye ma wo ho gyinae.

Sɛ wowɔ Marfan syndrome a, so wobetumi asiw komayare ano?

Nea ɛyɛ awerɛhow no, wontumi nsiw Marfan yare no ano, efisɛ efi awosu mu. Saa ara nso na wontumi nsiw komayare a ɛde ba no ano koraa.

Nanso, nneɛma bi wɔ hɔ a wubetumi ayɛ de atew asiane a ɛwɔ hɔ sɛ wubenya nsɛnnennen a emu yɛ den te sɛ aortic dissection so:

• Dwumadi ahorow a ɛde adwennwen ba koma no so a yɛbɛkwati (sɛnea yɛadi kan aka ho asɛm no, kwati a yɛbɛkwati nneɛma a emu yɛ duru a wɔma so ne agumadi a adwennwen kɛse wom).
• Koma mu mfoniniyɛ mu nhwehwɛmu a wɔbɛyɛ wɔ bere ano sɛnea oduruyɛfo no kyerɛ no.
• Nnuru a wɔakyerɛw ama wɔn nyinaa a wɔbɛnom no yiye na wɔanom wɔ bere ano.

Ade biako a ɛsɛ sɛ wokae titiriw ne sɛ, sɛ woyɛ ɔbea a wowɔ Marfan syndrome na woresusuw ho sɛ wubenyinsɛn a, akyinnye biara nni ho sɛ ɛsɛ sɛ wo ne wo duruyɛfo kasa fa ho. Nhwehwɛmu ada no adi sɛ mmea a wɔwɔ Marfan syndrome no mu bɛyɛ 40% betumi anya nsɛnnennen wɔ nyinsɛn mu. Enti, ɛho hia paa sɛ wobɛhwehwɛ aduruyɛfoɔ afotuo ansa na woanyinsɛn.

Dɛn ne daakye anidaso ma obi a ɔwɔ komayare esiane Marfan syndrome nti?

Sɛ obi a ɔwɔ Marfan yare no di ho dwuma yiye, kyerɛ sɛ, odi nnuruyɛfo afotu akyi na onya ayaresa a ɛho hia a, obetumi atra ase sɛnea ɛsɛ, ebia mfe 70 anaa 80 mpo.

Nanso, komayare ne ade titiriw a ɛma nnipa a wɔwɔ Marfan yare no wuwu, enti ɛho hia sɛ wo ne wo komayare ho oduruyɛfo di nkitaho daa de hwɛ wo tebea no so.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn? Dɛn ne nneɛma a egye ntɛmpɛ?

Sɛ wuhu saa sɛnkyerɛnne ahorow yi mu biara a, ebetumi ayɛ sɛnkyerɛnne a ɛkyerɛ sɛ aortic aneurysm apaapae. Ɛsɛ sɛ wohwehwɛ ayaresa a egye ntɛmpɛ ntɛm ara:

• Nhumu a ɛyera mpofirim.
• Akisikuru ne ɔfe.
• Nipadua no mu baabiara a ɛyɛ mmerɛw.
• Paralysis (nipadua no afã horow bi a ontumi nkɔ baabiara).
• Ɔhome a ɛyɛ den kɛse.
• Ɛyaw a ɛba mpofirim, a wontumi nnyina ano - wɔ koko, akyi atifi, anaa yafunu mu.
• Fifiri a ɛboro so.
• Wora a ɛbɛyɛ fitaa anaasɛ ɛyɛ nwini wɔ ɔkwan soronko so.
• Pulse a ɛyɛ mmerɛw yiye.

Sɛ wuhu sɛnkyerɛnne bi te sɛ eyi a, ntwentwɛn wo nan ase simma biako mpo.

Awiei koraa no, nea ɛsɛ sɛ wokae (Take-Home Message) .

Marfan syndrome yɛ awo mu yare a ɛka nipadua no ntini a ɛka bom no. Ebetumi aka koma no titiriw. Nanso mma ɛnhaw wo. Sɛ wohu tebea yi ntɛm na wodi ho dwuma yiye a, wubetumi atra ase wɔ ɔkwan a ɛfata so kɛse.

Ade a ɛho hia sen biara ne sɛ:

• Kɔ wo duruyɛfo nkyɛn daa.Afei obetumi ahwɛ wo tebea no so na wama wo nhwehwɛmu ne ayaresa a ɛho hia wɔ bere a ɛsɛ mu.
• Yɛ nsakrae a ɛho hia wɔ w’asetra mu. Twe wo ho fi nneɛma a emu yɛ duru wɔ wo koma so.
• Fa aduru no sɛnea wɔakyerɛw ama no no pɛpɛɛpɛ.
• Sɛ oduruyɛfo kamfo kyerɛ sɛ wɔnyɛ oprehyɛn a, ka ho asɛm yiye na paw nea eye ma wo.

Dodow a wunim wo tebea no ho asɛm no, dodow no ara na ɛbɛyɛ mmerɛw ama wo sɛ wubedi ho dwuma. Enti, yɛwɔ anidaso sɛ saa nsɛm yi so bɛba wo mfaso. Sɛ wowɔ nsɛmmisa bi a, ntwentwɛn wo nan ase sɛ wubebisa wo duruyɛfo.

` Marfan Syndrome, komayare, koma ne ntini nhyehyɛe, koma ntini, ntini a ɛka bom, awosu mu nyarewa, koma oprehyɛn