What causes congenital heart defects?

KONJENİTAL KALP HASTALIKLARI
Yrd.Doç.Dr.Cenk Eray YILDIZ
Kalp Ve Damar Cerrahisi A.D.
KALP DAMAR CERRAHİSİ
ANABİLİM DALI
Prof.Dr. Süha KÜÇÜKAKSU
Yrd.Doç.Dr. Cenk Eray YILDIZ
Yrd. Doç.Dr. Mehmet ERGENOĞLU
Dr. Halit YEREBAKAN
Kalp ve Damar Cerrahisine Genel Bakış
• İskemik kalp hastalıkları
• Kalp kapak hastalıkları
• Konjenital kalp hastalıkları
preoperatif dönem
peroperatif dönem
postoperatif dönem
Konjenital kalp hastalıkları (KKH) sınıflaması ve
cerrahisi
• *SHUNT OLUŞTURANLAR:
-Asiyanotik (sol-sağ şant) (Geç siyanotik)
-Siyanotik (sağ-sol şant) (erken siyanotik)
• *Obstrüktif lezyonlar
• *Kompleks malformasyonlar
• *Diğer lezyonlar
•
•
•
•
•
•
•
•
Dikkat: KALP(?)
Morarma
Emme güçlüğü
İştahsızlık
Nefes darlığı
Çarpıntı
Düşük doğum ağırlığı(DİYABET)
Gelişme geriliği
Çabuk yorulma
SOLDAN SAĞA SHUNTLAR
• ASİYANOTİK
• GEÇ SİYANOTİK (PH+EİSENMENGER SENDROMU-İNOP.)
• VSD (en sık) (-perimembranöz , -inlet(a-v kanal tipi), outlet(subarteryel,infundibuler tip), - musküler tip vsd.)
• ASD (PRİMUM(%5,A-V KANAL TİP),SEKUNDUM(%90),SİNUS VENOSUS(%5)
• PDA (DUKTUS ARTERİOZUS+0KSİJEN =KAPANIR)
• ATRİOVENTRİKÜLER KANAL DEFEKTİ (endokardial yastık
defekti)(Down sendr.)
SAĞDAN SOLA SHUNTLAR
(ERKEN SİYANOTİK,MAVİ BEBEK)
• FALLOT TETRALOJİSİ(vsd+ata binen aorta+pulm.kapak
stenozu+sağ vent.hipertrofisi)+ASD varsa fallot pentalojisi
olur.(SABO, TAHTA PABUÇ KALP)
• BÜYÜK DAMAR TRANSPOZİSYONU(BAT)
• TRUNKUS ARTERİOZUS(acil op.)
• TRİKUSPİD ATREZİ
• HİPOPLASTİK SOL KALP SENDROMU.
• TOTAL ANORMAL VENÖZ DÖNÜŞ.(KARDAN ADAM KALP)
• PULMONER ATREZİ.
Klinik semptomlar
Soldan sağa shuntlarda;küçük defektler
asemptomatiktir,spontan kapanabilir.
Büyük defektler büyüme gerilği,beslenme bozukluğu,çabuk
yorulma,enfektif endokardit,akc.infeksiyonu,yüksek shunt
oranı ile akc.ye aşırı perfüzyon sonucu pulmoner
hipertansiyon(küçük musküler arterlerde medial
hipertrofi,intimal hiperplazi ve obstrüksiyon,intimal
fibrozis,küçük arter dilatasyonu ,kavernöz ve anjiomatoid
lezyonlar,nekrotizan arterit.),eisenmenger sendromu(sağ
kalp yetersizliği,siyanoz,ölüm)
Klinik semptomlar
• Sağdan sola shuntlarda;doğumdan hemen sonra ,bebeklik
ya da daha ileri çocukluk döneminde siyanoz
atakları(taşipne,dispne,
-fallot tetrolojisine karakteristik- çömelme pozisyonu
görülür.Kalp yetersizliği,enfektif endokardit(jet akım) riski
artar.
Hipoksik bebeklerde polisitemi olur.Hct:%65 i aşarsa aşırı
vizkozite ,paradoksik embolizasyon,sistemik venöz
emboli,arteryel emboli,septik emboli,beyin absesine yol
açar.
Etyoloji;
• 6-8/1000 sıklıkta,maternal(4-9 hafta) viral
infeks.(rubella),kr.alkol alımı,talidomid vs.,insüline
bağlı diabet,fenilketonüri,ikizlerden birinde
defekt,kromozom anomalisi.
• Turner send. PDA,AO KOARKTASYONU
• Kartagener send.-kardiak situs inversus
• Fetal alkol send. VSD
• SİYANOZ:Arter kanında oksijenlenmemiş Hb
konsantrasyonun 5 gr/desilitre yi aşmasıdır.
OBSTRÜKTİF LEZYONLAR:
• Aort koarktasyonu
• Aort stenozu
• Pulmoner stenoz
•
•
•
•
•
•
•
•
AORT KOARKTASYONU:
Fibröz halka ile aortun daralması
Turner sendr.
Eşlik eden konj.biküspid aort ***
İnfantil(preduktal)tip,erişkin(postduktal)tip
Bacaklarda iskemi ,düşük tansiyon
Kolda tansiyon yüksek.
Renal HT.
Kostalarda çentiklenme(interkostal arterler genişler.)(TERS 3
İŞARETİ)
• Semptomlar:KKY,beyin kanaması,bakt. endokardit,dissekan
anevrizma rüptürü.
KONJENİTAL AORT STENOZU
Supravalvüler,valvüler(en sık),subvalvüler
Biküspid aort kapağı(EN SIK)
Erişkin çağda kalsifikasyon ve aort stenozu
Semptomlar:çabuk yorulma,baş dönmesi,bayılma.
Aort koarktasyonu eşlik edebilir. Aort disseksiyonu gelişebilir.
EKO,TELE:post stenotik dilatasyon ,çıkan aort geniştir.
Konj.subaortik stenoz
KONJENİTAL PULMONER STENOZ
• Akc.yeterli kan gitmez.sağ vent.engeli aşamaz.
• Darlık balon valvuloplasty veya açık kalp
cerrahisi(pulm. Valvotomi) ile giderilir.
Kompleks malformasyonlar
•
•
•
•
Büyük damarların transpozisyonu(TGA,BAT):
1 yaş altı siyanoz (en sık)
Ventrikülo-arteryal discordans
Atrioventriküler Kapakçıklar (mitral,triküspit) ventrikülden gelişir.Herzaman bu
kapaklar kendi ventrikülünün olduğu taraftadır. Mitral kapak ;morfolojik sol
ventrikülde,triküspit kapak ;morfolojik sağ ventriküldedir.
• Atrio-ventriküler concordans ,aort sağdaki sağ ventrikülden,pulmoner arter
soldaki sol ventrikülden çıkar.
• Doğumdan hemen sonra tanı konulan hastanın acil opere edilmesi gerekir.Bu
durumda pulmoner akım,sistemik akım oranları, pulmoner arter çapları
önemlidir.palyatif blalock-tausing shunt veya tam düzeltme ameliyatı= jatene
operasyonu(arteryel switch) yapılır.
• Blalock-tausing shunt sağ veya sol subclavian arter-pulmoner arter arasında
yapılır.pulmoner arterlerin çapı,arkus aortanın yönü önemlidir.
KONJENİTAL KORONER ARTER ANOMALİLERİ:
• Koroner arter çıkış anomalisi(ALCAPA)
•
‘’
‘’ sonlanış ‘’
•
‘’
‘’ seyir ‘’
•
‘’
‘’ anevrizmaları
•
•
•
•
1 in every 120 births has CHD
Mild – resolve by themselves
Non life threatening – but require treatment
Severe – multiple operations , lifetime
medication
What causes congenital heart defects?
•
•
•
•
•
•
Present at birth
Fetal development
An infant's chromosomes (5 to 6 percent )
Single gene defects (3 to 5 percent)
Environmental factors (2 percent)
There is no identifiable (In 85 to 90 percent of
cases)
• Multifactorial inheritance
Maternal factors and CHD
•
•
•
•
•
The first few weeks of pregnancy (49 day)
Maternal illnesses and medications
Lithium (Anti-depression)
Mothers who have phenylketonuria (PKU)
Women with insulin-dependent diabetes
(particularly if the diabetes is not well-controlled)
• Lupus (SLE)
• Rubella, MMR vaccine (pregnant)
Family history and CHD
• If you have had one child with congenital heart disease,
the chance… from 1.5 to 5 percent.
• Two children with CHD, then the risk increases to 5 to 10
percent.
• Mother has CHD  CHD ranges from 2.5 to 18 percent
(average risk of 6.7 percent)
• Father has CHD  from 1.5 to 3 percent.
• Obstructions to blood flow in the left side of the heart
have a higher rate of recurrence than other heart
defects.
• Autosomal-dominant inheritance50 percent chance
with each pregnancy
• Fetal echocardiography can be performed
in the second trimester, at about 18 to 20
weeks of pregnancy, to determine the
presence of major heart defects in the
fetus.
Chromosome abnormalities and CHD
• 5 to 8 percent of all babies with CHD have a
chromosome abnormality.
• Down syndrome
• trisomy 18 and trisomy 13
• Turner's syndrome
• Cri du chat syndrome
• Wolf-Hirshhorn syndrome
• Velo-cardio-facial syndrome and/or DiGeorge sequence
• William’s syndrome
Single gene defects
• There are an estimated 70,000 genes contained
on the 46 chromosomes in each cell of the body.
• Marfan syndrome
• Smith-Lemli-Opitz syndrome
• Ellis-van Creveld
• Holt-Oram syndrome
• Noonan syndrome
• Mucopolysaccharidoses
The others;
• Goldenhar syndrome (hemifacial
microsomia)
• William's syndrome,
• VACTERL association (tracheal and
esophageal malformations associated with
vertebral, anorectal, cardiac, renal, radial,
and limb abnormalities make up the
VACTERL syndrome).
ASD (atrial septal defect)
• 5 to 10 percent
• For unknown reasons, girls
have atrial septal defects twice
as often as boys.
• Oxygen-rich (red) blood to
pass from the left atrium
through the opening in the
septum, and then mix with
oxygen-poor (blue) blood in
the right atrium.
• An ostium secundum, an
opening in the middle of the
atrial septum, is the most
common type of ASD.
• Primum ve sinüs venozum
type.
Patent foramen ovale
ASD
ASD (Atrial Septal Defect)
• Hole between the two atria
• Blood flows left to right
• PFO – Patent foramen ovale
fails to close
• Right heart becomes dilated
• Too much blood to the
lungs
ASD (Atrial Septal Defect)
•
•
•
•
Primum ASD
Secundum ASD
Sinus venosus
AVSD – Atrio ventricular septal defect
ASD (Atrial Septal Defect)
• Secundum – closure in cath lab if suitable
• Surgery – patch or stitch – CP bypass
• Smaller defects – allow time to close - ? Stroke
in later life
What are the symptoms of an atrial septal defect?
• child tires easily when playing
• fatigue
• sweating
• rapid breathing
• shortness of breath
• poor growth
• frequent respiratory infections
How is an atrial septal defect diagnosed?
•
•
•
•
•
Chest X-ray
Electrocardiogram (ECG or EKG)
Echocardiogram (echo)
Cardiac Catheterization
Cardiac Magnetic Resonance Imaging
(MRI)
What are the treatments for atrial septal defect?
• Medical Management; Digoxin Diuretics
• Infection Control
• Cardiac Catheterization; A patch shaped
like an umbrella is closed (like a closed
umbrella)
• Surgical Repair (Primer or pericardial
patch)
ASD
like a closed umbrella
The GORE HELEX® Septal Occluder
Atrioventricular Canal Defect
Atrioventricular Canal Defect
• An atrial septal defect
• A ventricular septal defect
• Abnormalities of the mitral or tricuspid
valves
• First eight weeks of fetal development
• one-third of all children born with AV canal
also have Down syndrome.
Atrioventricular Canal Defect
Symptoms may include:
• 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
Atrioventricular Canal Defect
• Chest X-ray
• Electrocardiogram
(ECG or EKG)
• Echocardiogram (echo)
• Cardiac Catheterization
• Cardiac Magnetic
Resonance Imaging
(MRI)
• Medical Management;
Digoxin, Diuretics, ACE
(angiotensin-converting
enzyme) inhibitors
• Infection Control
• Adequate Nutrition
• Cardiac Catheterization;
A patch shaped like an
umbrella is closed (like a
closed umbrella)
• Surgical Repair (Primer
or pericardial patch)
leaky valve(s)
Ventricular Septal Defect
Ventricular septal defects are the
most commonly occurring type of
congenital heart defect.
Two basic types of VSD are:
• Perimembranous VSD (75%)
• Muscular VSD (20%)
***Pulmonary hypertension.
EİSENMANGER SENDROME
Ventriküler septal defekt
Ventricular Septal Defect
• Hole between the two
ventricles
• Left to right shunt –
majority
• Dilated right heart – too
much blood to lungs –
increase in pulmonary
pressure
• Smaller defects can
close spontaneously
Ventricular Septal Defect
•
•
•
•
Perimembranous VSD – most common
Muscular VSD – can be multiple
Apical VSD – usually small
Variable in size
Ventricular Septal Defect
• Surgical – CP bypass
• Catheter lab – Amplatzer if suitable
• Residual defects
Ventricular Septal Defect
Symptoms may include:
• fatigue
• sweating
• rapid breathing
• heavy breathing
• congested breathing
• disinterest in feeding, or tiring while feeding
• poor weight gain
Ventricular Septal Defect
• Chest X-ray
• Electrocardiogram
(ECG or EKG)
• Echocardiogram (echo)
• Cardiac Catheterization
• Cardiac Magnetic
Resonance Imaging
(MRI)
• Medical Management;
Digoxin, Diuretics, ACE
(angiotensin-converting
enzyme) inhibitors
• Infection Control
• Adequate Nutrition
• Cardiac
Catheterization(septal
occluder closes)
• Surgical Repair (usually
through the right atrium, patch
of Dacron cloth or a patch of
thin leather-like material called
pericardium)
Patent Ductus Arteriosus
• Most babies have a closed
ductus arteriosus within 24-72
hours after birth.
• PDA – patent ductus arteriosus
• Normal fetal structure , allows
blood to bypass circulation to the
lungs (O2 provided by placenta)
• Connection LPA to Ao
• Normally closes 24hrs after birth (
hi 02)
• Can correct several months after
birth
Patent Ductus Arteriosus
• Shunting of blood Ao to
PA
• Too much blood going
to lungs
• Increased PA pressure –
increase RV
• Long term damage to
lungs and heart
Patent Ductus Arteriosus
•
•
•
•
Drug treatment to induce closure
Cath lab – amplatzer or coil
Surgery – ligation
With associated severe CHD beneficial to
remain patent
Tetralogy of Fallot (TOF)
•
•
•
•
•
•
Four related defects:
Pulmonary stenosis ( obstuction PV/RVOT)
VSD
Overriding Aorta ( large AV )
Right ventricular hypertrophy (RVH)
Secondary – asd /
Tetralogy of Fallot (TOF)
• Reduced blood flow to the
lungs
• Low 02 blood pumped up
Ao (shunting)
• Reduced Sa02 in circulation
• Cyanosis – baby appears
blue (lips/skin)
• Increased RV pressure
(RVH)
Tetralogy of Fallot (TOF)
• Diagnosed in first few weeks of life – loud
murmur/cyanosis
• PDA closes – symptons increase
• Rapid breathing
• Tet spell – sudden increase in pulm resistance
/decrease Sa02 /more blue/squat
• Increasing 02 breathed – little effect
• Echo ? Cath –assess PA’s
Tetralogy of Fallot (TOF)
•
•
•
•
•
Drugs – increase pulm blood flow/Sa02
Surgical repair dependant on Pt condition
Complete repair at 6 months. Elective
Palliative op – BT shunt . LSCA to PA
VSD dacron patch. PS cut away obstuction and
patch RVOT
• Very successful op – pulm problems in later
life.? Residual VSD.
Transposition of the Great Vessels
•
•
•
•
Pulmonary arteries supplied by left ventricle
Aorta by right ventricle
Not compatable with life
Immediate survival dependant on shunt from
left heart to right heart
• 25% have VSD. 33% abnormal coronaries
Transposition of the Great Vessels
• Diagnosed in first few
days of life
• Cyanosis. Low sa02.
Rapid breathing.
• PDA closes. Symptons
worsen.
• 02 treatment does not
improve pt
Transposition of the Great Vessels
•
•
•
•
Drug (prostin) maintain PDA
Cath lab/echo for atrial septostomy(palliative)
Requires surgery within weeks
Mustard/Senning – ventricular
failure/arrythmias
• Switch operation
Transposition of the Great Vessels
• Division of Ao and PA just above heart
• Reconnect to correct ventricle
• Coronaries disconnected and reimplanted
onto new Ao (difficult)
• Close ASD and VSD if present
• Excellent results – PA problems in later life
Coarctation of the Aorta
• Narrowing of the Dao – juxta ductal
• Often associated with other CHD-e.g.bicusp
AV,VSD
• LVH /congestive heart failure
• Severe coarct require immediate treatment
• Weak femoral pulses – reduced blood flow to
lower limbs
Coarctation of the Aorta
• Depends on severity of the
narrowing
• Newborn – drug treatment
urgent surgery
• Older children – elective
surgery
• Surgery –
patching/resection/reconst
uction
• Cath lab – balloon(post
surgical repair)/stents
Coarctation of the Aorta
•
•
•
•
Damage to lower organs during surgery
Recoarctation – highest risk in newborn
Hypertension – even post repair
Importance of cardiology follow up especially
if AV bicusp