Cyanotic Congenital heart disease

dr. Marta Listijani Sigit, SpA

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Congenital Heart Disease

• Insiden : 1/125 live births.• most common birth defect• occur during the 1st 8 wks. of fetal

development

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Penyebab CHD• Kromosom /genetik = 10%-12%

• Maternal atau lingkungan = 1%-2%– Maternal drug use• Fetal alcohol syndrome—50% have CHD

– Maternal illness• Rubella in 1st 7 wks of pregnancy→50% risk of

defects including PDA and pulmonary branch stenosis• CMV, toxoplasmosis, other viral illnesses>>

cardiac defects• Mothers with chronic illness such as DM or

lupus are more likely to have babies with CHDs

• Multifactorial = 85%3

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Cardiac cyanosis in the NEWBORN

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SIANOSIS

• Tanda klinis yang khas : warna kulit dan membran mukosa menjadi kebiruan.

• Peningkatan konsentrasi dari hemogobin tereduksi di dalam sirkulasi lebih dari 5 g / 100 ml.

• Sianosis yang berasal dari desaturasi darah arteri disebut sianosis sentral sedangkan sianosis perifer adalah sianosis pada keadaan saturasi oksigen darah arteri normal.

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Sianosis:

Perifer (acrocyanosis) mukosa tidak

terpengaruh Tangan , kaki , sirkum

oral Neonatus karena

vasomotor belum stabil Gagal jantung, syok,

hipotermi

Sentral selalu tidak normal mukosa , trunk, extrimitas hiperoksia test positif, dengan aktivitas sianosis

bertambah, jantung (R to L shunt) atau

paru

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Bluish discoloration of skin and mucous membranes

How to differentiate betweenCARDIAC CYANOSIS from PULMONARY CYANOSIS

*Tanpa distres nafas*Pada mukosa mulut,lidah, kelopak mata, ujung jari*Bertambah berat bila menangis*Suhu hangat*Hyperoxic-test, pemberian oksigen 100 % dengan

kecepatan 1 liter/menit selama 10 menit : sianosis tetap atau

bila saturasi O2 >98% bukan PJB sianosis, bila saturasi O2 >90% kemungkinan suatu PJB sianosis, tapi bila saturasi O2 tetap dibawah 90% hampir dipastikan suatu PJB sianosis.

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CARDIAC CYANOSIS

Penurunan saturasi oksigen sistemik Akibat dari 2 kondisi :

1.”Darah kotor” tidak dapat mencapai arteri pulmonalis ( pulmonary blood flow menurun )

2.Aorta menerima “darah kotor” ( pulmonary blood flow normal/meningkat )

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Cardiac cyanosis in the NEWBORN

Chronic cyanosis causes clubbing of the digits

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The basis of congenital heart disease is rooted inan arrest of or deviation in

normal cardiac development

The 5 T’s of cyanotic heart disease

• Tetralogy of Fallot• TGA (d-transposition of the great arteries)• Truncus arteriosus• Total anomalous pulmonary venous return• Tricuspid atresia / single ventricle• Pulmonary atresia• Ebstein’s malformation of tricuspid valve

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Tetralogy of Fallot

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Tetralogy of Fallot

5-8% of all congenital heart disease

1:3600 live birthsmost common cause of

cyanosis in infancy/childhoodSeverity of cyanosis

proportional to severity of RVOT obstruction (pulmonal stenosis)

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RV

Tetralogy of Fallot

• Anterior deviation of the outlet ventricular septum is the cause of all four abnormalities seen in tetralogy of Fallot.

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Anamnesis

• Terdapat sianosis, nafas cepat, dyspnea d’effortt

• Squatting (jongkok) sering terjadi setelah anak dapat berjalan

• Riwayat serangan sianotik

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Pemeriksaan fisik• Bayi/anak tampak sianosis• Getaran bising dapat teraba pada bagian atas

dan tengah tepi kiri sternum• Auskultasi: bunyi jantung II tunggal dan

mengeras, disertai bising ejeksi sistolik di daerah pulmonal

• Jari tabuh/clubbing

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Darah

• Peningkatan jumlah eritrosit dan hematokrit sesuai dengan derajat desaturasi dan stenosis

• Hb dapat sampai 17 g%;• Hct dapat sampai 50-80%;• Kadang-kadang ada anemia hipokromik relatif.

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Foto thorax

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• berbentuk sepatu (“boot-shaped” heart)

•Apeks terangkat

•Vaskularisasi paru menurun

I

III

ECG

Echo-Doppler

4 derajat ToF

• Derajat I : tak sianosis, kemampuan kerja normal

• Derajat II : sianosis waktu kerja, kemampuan kerja kurang

• Derajat III : sianosis waktu istirahat. kuku gelas arloji, waktu kerja sianosis bertambah, ada dispneu.

• Derjat IV : sianosis dan dispneu istirahat, ada jari tabuh.

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Serangan sianosis/cyanotic spellSerangan biru tiba-tibaAnak tampak lebih biru, pernafasan cepat,

gelisah, kesadaran menurun, kadang-kadang disertai kejang

Penyebab: berkurangnya aliran darah ke paru-paru secara tiba-tiba

Pencetus: menangis, BAB, demam, stressBerlangsung 15-30 menit, dan biasanya teratasi

spontan, serangan yg hebat koma kematian

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SERANGAN SIANOSIS

Metabolisme anaerobikMetabolik asidosisRangsangan pusat respirasi dan kemoreseptor

untuk melepaskan CO2 sebagai mekanisme kompensasi (terjadi hiperventilasi)

Hiperventilasi meningkatkan tahanan pembuluh darah paru sehingga meningkatkan pirau kanan ke kiri

Terjadi LINGKARAN SETAN26

Serangan sianosis/cyanotic spell

Paroxysmal hypoxemia due to acute change in balance between PVR and SVR

SVR causes an increase in R L shunt, increasing cyanosis

SVR (hot bath, fever, exercise)Agitation dynamic subpulmonic

obstructionLife-threatening if untreated

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Management of “tet” spell:goal is to SVR and PVR

1. Ventilasi adekuat2. Knee-chest position ( SVR)3. Fluid bolus i.v. ( SVR)4. Morphine i.v. 0.1-0.2 mg/kgBB SC/IM/IV ( agitation,

dynamic RVOT obstruction)5. NaHCO3 1 mEq/kgBB IV to correct metabolic acidosis (

PVR)6. Phenylephrine 0.02 mg/kgBB IV to SVR7. -blocker (propanolol 0.01-0.25 mg/kgBB) bila ada

prolonged spell, dilanjutkan dosis rumatan 1 – 2 mg/kg oral ( dynamic RVOT obstruction)

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Knee-chest Position

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Child with a cyanotic heartdefect squats (assumes a knee-chest position) to relievecyanotic spells. Some times called “tet” spells.

Ball & Bindler

Nurse puts infant in knee-chestposition. Whaley & Wong

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Penyulit

• Abses serebri• Sub-bakterial endokarditis (SBE)• Stroke/kejadian cerebrovascular• Diatesis hemorhagic• Polisistemia dan sindroma hiperviscositas

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TATALAKSANA

• Medis : – cyanotic spell– Pencegahan komplikasi

• Intervensi :– Paliatif – Total koreksi

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Tatalaksana rawat jalan1. Derajat I : Medikametosa : tak perlu Operasi (rujukan ) perlu dimotivasi, operasi total dapat dikerjakan

kalau BB > 10 kg. Kalau sangat sianosis/ada komplikasi abses otak, perlu dilakukan operasi paliatif.

Kontrol : tiap bulan.2. Derajat II dan III : Medikamentosa ; - Propanolol Operasi (rujukan) perlu motivasi, operasi koreksi total dapat

dikerjakan kalau BB > 10 kg. Kalau sangat sianosis/ada komplikasi abses otak, perlu dilakukan operasi paliatif.

Kontrol : tiap bulan Penderita dinyatakan sembuh bila : telah dikoreksi dengan baik.

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Palliative intervention

1-Recurrent spells

2-Hc > 60%3-O2 < 75%

In whom complete correction can not be done

Innominate A. RPA Innominate A. RPA TC PV BVTC PV BV

Surgical corrective operation

Transposition of the Great Artery (TGA)

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Transposition of the Great Arteries

• Prevalence 3-4 per 10,000 live births• big boys!• isolation and parallel systemic and vascular

circulation, with systemic venous blood returning to the systemic arteries.

• Recirculate the de-oxygenated blood

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TGA Diagnosis, based upon presentation of a cyanotic infantcxr-increased pulmonary blood flowmanagement

prostaglandin balloon septostomy arterial switch repair

outcome dependent upon surgical repair arterial switch coronary re-implantation

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D-Transposition of the Great Arteries

Ao is anterior, arises from right ventricle

PA posterior, arises from left ventricle

Systemic venous (blue) blood returns to RV and is ejected into aorta

Pulm venous (red) blood returns to LV and is ejected into PA

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RV LV

PAAo

d-TGA results from abnormal formation of aortico-pulmonary septum

40http://www.med.unc.edu/embryo_images/

LVRV

LARA

truncustruncus

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PA

AO

cushion

D-transposition of great arteries

• Systemic and pulmonary circulations are in parallel, rather than in series

• Mixing occurs at atrial and ductal levels

• Severe, life-threatening hypoxemia

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RV

AoPA

RA LA

D-transposition of great arteries

• 5% of all congenital heart disease

• Most common cause of cyanosis in neonate

• Male:female 2:1

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• Narrow mediastinum due to anterior-posterior orientation of great arteries and small thymus

• Cardiomegaly is present w/ increased pulmonary vascular markings

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d-TGA CXR: “egg on a string”

Initial management of d-TGA:goal is to improve mixing

1. Start PGE1 to prevent ductal closure

2. Open atrial septum to improve mixing at atrial level (Rashkind procedure).

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Surgical management of d-TGA:Arterial switch procedure

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The arterial trunks are transected and “switched” to restore “normal” anatomy

The coronary arteries are resected and re-implanted.

TRUNCUS ARTERIOSUS

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Truncus Arteriosus

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RV

LV

RAALAA

PAAo

Tr

Truncus arteriosus: aortico-pulmonary septum fails to develop

49http://www.med.unc.edu/embryo_images/

PA

AO

cushionLVRV

LARAtruncustruncus

Manifestasi klinis

• cyanosis • fatigue • sweating • pale skin • cool skin • rapid breathing

• heavy breathing • rapid heart rate • congested breathing • disinterest in feeding, or

tiring while feeding • poor weight gain

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Tatalaksana• Operasi • medical management– Digoxin – Diuretics – ACE (angiotensin-converting enzyme) inhibitors - dilates the blood

vessels, making it easier for the heart to pump blood forward into the body.

• adequate nutrition– high-calorie formula or breast milk– supplemental tube feedings

Surgical correction: Truncus Arteriosus

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Surgical correction: Truncus Arteriosus

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