Cardiac Embryology &

Congenital Heart Diseases

Oleh : dr Michael Andhito

Pembimbing :
dr. Omar Mokhtar Siregar, SpJP
dr. Ivan Noersyid, SpJP
• Dimulai pada pertengahan minggu ke 3 gestasi(hari ke 16)
• Heart progenitor cells dan neural crest cells bermigrasi ke area cephalic
• Heart progenitor cellsprimary heart field(PHF)atria, LV dan RV
• Neural crest cellssecondary heart field(SHF)outflow tract, aortic arch dan
pulmonary trunks
Formation of Heart Tubes day 22
(transversal view)
• Lateral Folding
Sagittal view
Day 23-28
Development of Atrium
• Formation of Atrioventricular Canals (day 23-35)
Septation of Atria (day 30-37)
Middle of 4th week-5th week
Formation of Outflow Tracts (week 6-7)
Septation of Ventricles (week 5-7)
• Pembesaran myocardium di dinding
ventrikel dan menyatu di bagian medial 
muscular IVS

• Setelah outflow tracts terbentuk, antara

RVOT dan LVOT dipisahkan oleh
conotruncal septum

• Sel-sel dari anterior/inferior EC bertumbuh

k arah superior untuk menyatu dengan
conotruncal septummembranous IVC
 Formation of Atrioventricular Valves
• Katup AV berasal dari sel-sel
mesenkimal yang
berproliferasi

• Dinding ventrikel yang kasar

akan terkikis aliran darah dan
terdegradasi menyisakan
connective tissue
tipischorda tendinae
Formation of Semilunar Valves (week 5-9)
• Sel- sel neural crest berdiferensiasi di area conotruncal junction
membentuk bulbar ridges dan menyatu di bagian medialaortic and
pulmonary segment

• Sel-sel di anterior and posterior wallsanterior and non coronary

cusp
Formation of Conducting System
• Berasal dari perkembangan sinus venosusSA node di dekat opening
of SVC
• AV node berasal dari dinding kiri sinus venosus
 Molecular Regulation of Cardiac
Development
• BMPs (bone morphogenetic protein) disekresi oleh sel2 endoderm dan
lateral plate mesoderm di cranial end, dirangsang oleh VEGFs. BMP
merangsang keluarnya gen NKX 2.5(master), PITX2(laterality).

• Endoderm juga menghasilkan protein Crescent dan Cerberus, yang

menghambat protein WNT (dihasilkan neural tube)

• Serotonin (5HT) berperan dalam cardiac laterality namun di sisi kanan

dihambat oleh monoamine oxidase(MAO)

• Mesoderm di sinus venosus dan primitive atria memproduksi asam

retinoat/retinoic acidlooping dari atria dan sinus venosus, namun
menghambat perkembangan ventricle dan outflow tract
 Fetal Circulation
• 3 shunts : ductus venosus, ductus arteriosus
dan foramen ovale
• Ductus venosus memiliki sphinctermencegah
cardiac overload di IVC saat kontraksi uterus
• 1/3 volume darah dari IVC akan lewat foramen
ovale ke LALVasc. Aortabrain & coronary
• Darah dari SVC+2/3 dr IVCRVpulmo artery
• 12% output dr pulmo artery akan ke paru2 dan
88% akan lewat ductus arteriosusdesc.
Aortaumbilical arteriesplacenta
Transitional Circulation
• Aliran darah dari plasenta berhenti
SVR meningkat
Ductus venosus konstriksitekanan IVC dan RA menurun

• Paru-paru mengembang
 pulmonary vasc. resistance  pulmonary blood flow  PA pressure
 LA pressure > RA pressure  functional closure of foramen ovale
 blood O2 level increased  PGE1 decreased  ductus arteriosus constricted
 closure
Pediatric ECG
• RV dominance in infants-3 years old
• RAD, rightward and anterior QRS forces :
• Tall R in aVR, V4R, V1, V2
• Deep S in I, V5, V6
• Complete/partial reversal R/S
progression
• P wave : axis +15 to +75, amplitude <3mm,
duration<100 ms
• PR interval : 100-120 ms (infant), 120-150 ms (child)
• QRS : axis and amplitude varies w/ age
Congenital Heart Diseases
• Cyanotic dan Acyanotic

• Gejala : tachypnea, tachycardia, pertumbuhan lambattanda kongesti

• Edema and suara nafas abnormaltidak khas pada bayi

• Cyanotic = warna kulit dan membrane mukosa kebiruan serta arterial SpO2 <85% pd neonates dg Hb
normal.

• Cyanotic Lesions (right-left) : ToF, TGA

• Acyanotic Lesions (left-right shunt) : ASD, VSD, PDA, PFO, aortic/pulmonary stenosis, CoA

• L-R shunt yang besar dan kronis menyebabkan pulmonary vascular disease R-L shunt (Eisenmenger
Syndrome)
Atrial Septal Defect L-R shunt

Increased flow

• Tipe : ostium secundum

type (common), ostium RA, RV, PA
enlargement
RV overloadPA
hypertension
primum type, sinus
venosus defect dan PFO RV heave
CXR : pulmonary
plethora, apex
ECG : RAD, RAE,
RBBB RV failure, CHF
RVH
• Patophysiology : membulat

• mostly asymptomatic ec Wide, fixed split Eisenmenger

S2 syndrome
slow progression
• Management : Systolic murmur
(pulmonary)
• Open surgery/
percutaneous repair Large ASD : Mid
diastolic murmur
(tricuspid)
Ventricular Septal Defect
• Membranous (70%) dan muscular VSD
• Treatment :
• 50% small and moderate VSD closed
spontaneously
• Open or transcatheter repair
Small VSD = Moderate-large
Large resistance VSD

Regurgitant & High pressure in

asymptomatic turbulence ec RV
defect

Harsh High PA
holosystolic RVH Increased LA, LV pressure
murmur flow & pressure

Increased
pulmonary Pulmonary HT
Relative mitral LAH and LVH vascularity
stenosis

Eisenmenger’s Loud P2
Mid-diastolic syndrome
rumble
 4 patterns of VSD/PDA

• ECG changes :
• Normal : small PDA/VSD
• LVH and/or LAH : p mitral, deep Q, tall R
in V6
• Biventricular hypertrophy : tall biphasic
QRS in mid precordial leads, PA pressure
• Isolated RVH : pulmonary vasc. disease
developed pulmonary resistance
 Patent Ductus Arteriosus
• Functional closure in 10-15 hrs postnatal, anatomical closure 2-3 wks
• Risk factors : female, rubella infection in 1st trimester, Down
syndrome, prematurity dan lahir di dataran tinggi (related to O2 and
PGE2) PDA shunt

• Treatment :
• Indomethacin or ibuprofen PO/IV Increased PA
Large pressure
gradient in systolic
pressure
• Immediate closure if HF symptoms appear and diastolic

Increased Continuous
Increased LA, LV
pulmonary Pulmonary HT machine-like
pressure & volume
vascularity murmur

Aortic Wide pulse

Relative MS LAH, LVH Increased P2
enlargement pressure

Apical diastolic Eisenmenger’s

rumble syndrome
 Tetralogy of Fallot
• Caused by abnormal anterior and cephalic displacement of outflow
tract
• (1) VSD caused by anterior malalignment, (2) pulmonic stenosis,
(3)overriding aorta, (4) RVH
• Signs and symptoms :
• Cyanotic spell, DoE
• Cyanosis, Clubbing fingers, Systolic ejection murmur di ULSB(PS)
• CXR : RV enlargementboot-shaped heart, vasc. marking
• ECG : RVH, RAD
Patophysiology
• Level of cyanosis depends on SVR => SVR cyanosis
• Tachycardia and hypovolemia  narrowing of RVOT  R-L
shunt
• Hypovolemia  SVR  cyanosis
• Cyanotic spell/tet spell/hypoxic spell = hyperpnea &
worsening cyanosis
• Spell caused by : crying, feeding, physical activity
Treatment
• Treatment of TET spell
• Corrective repair :
• Closing VSD
• Resecting the stenosis
• Inserting RVOT patch
Thank You