Marfan Syndrome chungchang hi hriat i duh em? Kan sawi dun teh ang!

Mi thenkhat chu midang aiin an sang zawk hle a, an kut leh ke, an kut zungtang, etc. chu a pangngai aia sei zawkin a lang tih i hmu ngai em? A nih loh leh an rilru pianzia danglam tak an nei em, a nih loh leh mit lamah harsatna an nei em? A chang chuan heng symptoms te nen hian thinlung leh mit lamah harsatna engemaw zat a awm thei bawk. Chu chu Marfan Syndrome chu a ni. Hei hi genetic condition a ni. Lungngai suh, he thu hi chipchiar zawkin sawi ila.

Marfan Syndrome hi eng nge ni? A awlsam zawngin...

A awlsam zawngin Marfan Syndrome hi kan taksa chhunga connective tissue tichhe thei genetic condition a ni. Tunah chuan connective tissue chu eng nge ni tih i ngaihtuah mai thei. Ngaihtuah teh, connective tissue hi tissue chi khat bik a ni a, kan taksa peng hrang hrang, vun, ruh, thisen kalna kawng, leh heart valve te hi a thlunzawm a, chakna leh inthlak danglam theihna pe turin a pui a ni.

Marfan syndrome vei tan chuan he connective tissue hi a chak lo deuh a, a elastic lutuk bawk . Rubber band ang mai a ni a, mahse chakna a nei tlem zawk. Hei vang hian he natna hian taksa chhunga system hrang hrang a nghawng thei a ni. A bik takin thinlung, thisen kalna kawng, mit, ruh leh ruhkawr te a nghawng thei a ni .

Doctor-te chuan hei hi "variable expression" nei genetic condition an ti. Chumi awmzia chu he natna vei zawng zawng hian symptoms inang an nei vek dawn lo tihna a ni. Mi thenkhat chuan symptoms an nei tlem hle ang a, thenkhat erawh chuan tlem an nei leh ang. Tin, natna lan chhuah hun chhung hi mi hrang hrangah a inang lo thei bawk.

Marfan syndrome hi nau piang laia awm thin a ni . Mahse, a chang chuan symptoms a lang chhuak a, i hriat chhuah hunah chuan puitling naupang emaw, a aia upa emaw i ni thei. Inherited connective tissue disorder awm tam ber zinga mi a ni. Mi 3,000 atanga 5,000 zinga pakhat velin a nghawng a ni.

Hei hi eng symptoms nge ni thei ang?

Marfan syndrome hian thil pawimawh pahnih a nei a. Pakhat chu aortic root aneurysm (aortic root aneurysm) a ni. Hei hi kan thinlung atanga taksa (aorta) thlenga thisen phurtu thisen kalna bulge bulge emaw widening emaw a ni. A dang chu mit lens hring (ectopia lentis) a ni .

Heng mizia lian pahnih hian symptoms i nei thei a, chungte chu:

• Heart palpitations hi i thinlung a thawk chak zawk leh i rilru a na hle tih hriatna a ni.
• I thinlung chu nasa tak leh rang taka thawk tih hriat.
• Mit na a na.
• Thâwk harsa.
• Vision a inthlak danglam a; entirnan, astigmatism leh extreme nearsightedness te hi a ni.

Mahse Marfan syndrome hian taksa peng dang a nghawng theih avangin symptom dang a awm thei bawk. Entirnan, taksa lama natna lan chhuah dante chu:

• Hmai chu a sei deuh a, a tawi deuhin a lang thei.
• Taksa peng dang nena khaikhin chuan kut, ke leh kut zungtang te hi a sei zawkin a lang.
• Ha (crowded teeth) chu ha inzawm khawm, a chungah dah khawm ang maia awm a ni.
• Scoliosis natna (Scoliosis) a ni.
• Ke flat tak a ni.
• Joint chak lohna leh awlsam taka inthlak danglam.
• Taksa rih zawng a danglam nasa lo a nih pawhin vunah stretch mark a lang thin.
• A rilru a pil (pectus excavatum) emaw, a rilru a chhuak (pectus carinatum) emaw.
• Taksa sang tak, hring hring.

Hetiang dinhmun hian eng harsatna nge a thlen?

Marfan syndrome hian harsatna hrang hrang a thlen thei a, chu chuan i thinlung, i mit leh i lungte a tichhe thei a ni.

Cardiovascular complications hi Marfan syndrome natna vei tam ber a ni. Chûng zîngah chuan:

• Aortic dissection: Hei hi i aorta bang chhung lam layer-a tear chhuak a ni. Hei hi emergency a ni.
• Heart valve natna: Marfan syndrome hian heart valve chhunga tissue te chu a tichak lo va, a ti flexible thei bawk.
• Thinlung lian: Hun a kal zel a, i thinlung ruh chu a lianin a chak lo thei bawk.
• Heartbeat irregularities (Arrhythmia): Hetiang natna hi mitral valve prolapse nen a inzawm fo thin.
• Brain aneurysms: Thluak chhung emaw, a chhehvel emawa thisen kalna kawng chak lo tak a bulging.

Mit lama harsatna awm thei te chu:

• Mit (cataract) a awm.
• Glaucoma natna a awm.
• Retinal atanga chhuak (retinal detachment) a awm.

Marfan syndrome nena inzawm lung tissue inthlak danglamna hian:

• Asthma natna a ni.
• Bronchitis a ni.
• Chronic obstructive pulmonary disease (COPD) a ni a, a rilru a hah lutuk a, a rilru a buai em em bawk a.
• Lung / pneumothorax a tlakbuak.
• Emphysema a awm thin.
• Pneumonia natna (Pneumonia) a ni.

Eng thilin nge Marfan syndrome hi a thlen?

Hei hi genetic variant avanga lo awm a ni . A bik takin, kan cell-te hnena fibrillin tih protein siam tura hrilhtu gene – FBN1 gene – inthlak danglamna. He fibrillin hi kan connective tissue-a elastic fibers awmte siamtu lian tak a ni.

A tam zawkah chuan Marfan syndrome hi nu leh pa zinga pakhat hnen atanga rochun natna a ni . Hei hi autosomal dominant inheritance a ni.Natna rochun a ni. Chu chu, nu leh pa pakhat hnen atanga gene rochun avanga natna lo awm thei tihna a ni. Marfan syndrome vei chuan an fate pakhat zel hnenah natna kai theihna chance 50% an nei a ni.

Mahse, 25% vel chu he natna hi genetic change thar (a chhan hriat theih loh) vang a ni thei a, chhungkaw history engmah a awm lo.

Engtin nge doctor-te hian Marfan syndrome hi an hriat theih?

Marfan syndrome hian taksa chhunga tissue hrang hrang tam tak a nghawng avangin, he natna hi hriat chian a, enkawl dan tur ruahmanna siam turin specialist team puihna i mamawh mai thei.

Pakhatnaah chuan doctor-te chuan heng thilte hi an ti thin:

• I medical history zawt rawh.
• Taksa enfiahna neih a ni ang a, natna lan chhuah dan tlangpui a awm leh awm loh enfiah a ni ang.
• I symptoms chungchang zawh.
• Chhungkaw zingah hian Marfan syndrome nena inzawm hriselna lama harsatna nei an awm em tih zawt rawh.

Doctor-te chuan Marfan syndrome hmuhchhuah nan hian "Ghent nosology" an tih criteria set an hmang tlangpui. Diagnosis finfiah nan emaw, hetiang ang chi dang awm lo turin a hnuaia test te hi tih a tha thei ang:

• CT scan `(Computed tomography - CT scan) hmanga tih a ni.
• Chest X-ray neih a ni.
• E.C.G.-in a sawi. Test `(Electrocardiogram - ECG)` tih a ni.
• Echocardiogram hmanga tih a ni.
• MRI scan (Magnetic resonance imaging - MRI) hmanga enfiah a ni.

Genetic test (hei hi thisen test a ni) hian FBN1 gene inthlak danglamna a zawng thei a, hei hi Marfan syndrome thlentu a ni fo. Mahse, heng genetic test result hi a chiang lo fo. He test hian genetic condition dang, symptoms ang chi, Loeys-Dietz syndrome ang chi te pawh a zawng thei bawk.

Marfan syndrome hi engtin nge enkawl a nih?

Marfan syndrome hi damdawi a awm lo . Mahse, i natna lan chhuah dan tur leh harsatna i neih loh nan enkawlna leh hmanraw hrang hrang a awm a. Chung zingah chuan:

• Damdawi chi hrang hrang.
• Damdawi lam enkawlna pangngai (routine medical monitoring) neih thin.
• Taksa tihchakna kaihhruaina.
• Inzai.

I hriselna lama harsatna nei bik enkawlna tur ruahmanna i mamawh a ni.

Damdawi chi hrang hrang

Damdawi thenkhat hian harsatna awm thei venna emaw control emaw a pui thei a:

• Beta-blockers: Hengte hian thisen kalna kawng lian tak takte chu a tizau emaw, a tizau emaw a ni. Doctor-te chuan Marfan syndrome vei tan he enkawlna hi a hma thei ang bera tan tir an rawt a ni. Hengte hi asthma ang chi natna avang emaw, a side effect vang emawa i ei theih loh chuan i doctor chuan calcium channel blocker a pe thei che a ni.
• Angiotensin II receptor blocker (ARBs) te hi a hnuaia mi ang hian a ni.Heng damdawi te hian intestine lian tham tak a ti hniam thei bawk.

Marfan syndrome avanga heart valve surgery i neih chuan i dam chhung zawngin anticoagulant damdawi i ei a ngai dawn a ni.

Damdawi lam enkawl reng reng

Heng thilte hi medical checkup neih fo tur a ni:

• Lung leh thisen kalna kawng – a bik takin i diaphragm lian tak ang zat.
• Mit.
• Skeletal system a ni.

Chutiang chuan i medical team chuan inthlak danglamna chu an enfiah thei a, harsatna awm thei zawng zawng chu a hmain an hmuchhuak thei bawk. Heng test neihna tur hian eng chen nge i luh tur tih an hrilh ang che.

He monitoring hian imaging test te a huam tlangpui a, chungte chu:

• CT scan hmanga tih a ni.
• Echocardiograms te pawh a awm.
• MRI scan a ni.

Taksa tihchakna kaihhruaina

Taksa tihchakna hahthlak tak tak hian i diaphragm leh Marfan syndrome-in a nghawng connective tissue dangte chu pressure a siam thei a ni. Chuvangin physical therapist nen thawhhona tha tak neiin exercise leh infiamna him tak tak i tana tha tur i zawng chhuak tur a ni.

Doctor-te chuan exercise low- to moderate-intensity an rawt tlangpui. Mahse, i mitral valve emaw valve roots emaw surgery i neih tawh chuan a level hniam zawka exercise i tih a ngai mai thei.

A tlangpuiin, hetiang thil hi i pumpelh tur a ni:

• Thâwk khap tlat leh chak taka thawhrimna (Valsalva maneuver) tihna thiltih.
• Infiamna lam biak theih a ni.
• Exercise chu hahdam takin.
• Exercise, hmun khata rei tak vawn tlat, plank leh wall sits te hi isometric exercise an ti a.

Lung zai a ni

Marfan syndrome tana heart surgery neih tum ber chu i aortic valve dilating emaw ruptured emaw venna leh valve harsatna enkawl hi a ni. Nang leh i medical team te chuan operation i mamawh leh mamawh loh chu in rel dun ang a, thil engemaw zat ngaihtuah hnuah.

Marfan syndrome enkawlna atana surgery leh procedure tih tam berte chu hengte hi an ni:

• Aortic valve siamthat emaw thlak emaw.
• Ascending aortic aneurysm siamthatna tur a ni.
• Mitral valve siamthat emaw thlak emaw.
• Thoracic endovascular aortic siamthatna tur a ni.

Surgery i mamawh chuan i surgery chi hrang hranga experience nei hospital lian tak thlang tum ang che. I surgical team pawhin Marfan syndrome chungchang hi hriatthiamna tha tak an nei tur a ni.

Marfan syndrome neia i nun lai hian eng nge i beisei theih ang?

Marfan syndrome i neih chuan medical appointment neih fo a ngai ang a, i taksa pawh i fimkhur a ngai bawk ang. Marfan syndrome hian mi zawng zawng hi a nghawng dan inang vek lo va, chuvangin he natna nena i zinkawng hi i tan chuan a danglam bik dawn a ni. I medical team chuan i dinhmun inthlak danglamna nena inmil turin an pui ang che.

Nangmah chauh i ni lo tih hre reng ang che. Medical team te pawh an awm reng a ni.

Marfan syndrome chungchanga hriatna sang zawk leh damdawi lam enkawlna tha zawk avang hian tunah chuan Marfan syndrome vei te chu kum 1970 chho hma aiin an dam rei tawh hle. Tunah chuan Marfan syndrome vei dam rei zawng chu he natna nei lo dam rei zawng nen a inang tawh hle. Mahse, mipa dam rei zawng hi hmeichhia aiin a tawi zawk tih a chiang hle.

Marfan syndrome-a thihna thlentu lian ber chu cardiovascular disease a la ni reng a ni. Hei hi natna hriat chian loh laia thihna rapthlak tak takte tan chuan a dik hle. Late diagnosis dawngtute zingah pawh a hlauhawmna a sang zawk.

Marfan syndrome leh rilru lam hriselna

Marfan syndrome vei hian i rilru hriselna leh nunphung tichhe thei thil engemaw zat a awm. Entir nan:

• Marfan syndrome hi natna khirh tak a ni a, dam chhung enkawl a ngai a ni.
• He dinhmun hian i hmel lan dan a nghawng dan.
• Natna rei tak leh hahna.
• Taksa tihchakna khap (hengte hian khawtlang inlaichinna pawh a nghawng fo thin).
• Chhungkaw ruahmanna avanga nawrna.

Chuvang chuan hetiang thil hi i risk sang zawk thei a ni:

• Hlauhthawnna.
• Lungngaihna.
• Midang hnen atanga tihduhdahna tawn.
• Khawtlang nunah inthiarfihlim.

Marfan syndrome vei enkawltu leh chhungte pawhin heng rilru lam harsatna te hi an vei thei a ni.

I rilru hriselna hi i taksa hriselna ang bawkin a pawimawh a ni.

Marfan syndrome avanga stress i neih chuan rilru lam hriselna lama mithiam, psychologist ang chi hnenah tanpuina dil theihnghilh suh . Support group-a tel ve pawh a ṭangkai hle thei bawk.

Marfan syndrome nei nun hi appointment, enkawlna leh nunphung inthlak danglamna kawngkhar inher chhuak ang maiin a lang thei. Mahse test apiang leh appointment apiang hian Marfan syndrome avanga harsatna lo thleng tur pumpelh nan leh nun hrisel thei ang bera nung turin a pui che a ni. Chu zawng zawngah chuan i medical team te chu i hnenah an awm reng a ni. An thlawpna leh kaihhruaina dawng rawh. Heng zawng zawng hian a tibuaitu nia i hriat chuan rilru lam hriselna lama mithiamte hnenah tanpuina zawng rawh.

Thil pawimawh tak tak hriat reng tur (Take-Home Message) .

Okay, chuvangin kan sawi tawh atanga i hriat reng tur pawimawh tak tak thenkhat han thlir ila:

• Marfan syndrome hi genetic condition a ni a., kan taksa inzawmkhawmna (connective tissue) te a nghawng a ni.
• Hei hian hmun hrang hrang, thinlung, mit, leh ruh te a nghawng thei a ni. Medical checkup neih fo a pawimawh hle .
• Hei hi tihdamna famkim awm lo mah se, natna lan chhuah dan thunun tur leh harsatna lo thleng tur venna tur enkawlna tha tak tak a awm a ni.
• I doctor thupek ang chiah kha zawm rawh. I damdawi ei tur chu a hun takah ei la, i tih tur test te chu ti rawh.
• Taksa lam thil i tih hian i fimkhur hle tur a ni. I doctor emaw physical therapist emaw hnenah eng exercise nge i tan a tha tih zawt rawh.
• I rilru hriselna pawh uluk hle ang che. I mamawh chuan tanpuina zawng hreh suh.
• Nangmah chauh i ni lo va, i tanpui tur medical team, chhungte leh ṭhiante i nei a ni.

He thu hi in tan a tangkai ngei ka beisei. Zawhna dang i neih chuan doctor zawt hreh suh.

` Marfan Syndrome, genetic disease, connective tissue, thinlung natna, ruh, mit, fibrillin