CONGENITAL

HEART
DISEASES
GROUP 3

1
 GROUP MEMBERS
• AH/PAS/21/0028 ANANE AGYEI, JANET
• AH/PAS/22/0117 OPOKU PRINCE
• AH/PAS/22/0031 GRACE MENSAH
• AH/PAS/21/0031 ADJEI, ELVITA SERWAAH
• AH/PAS/21/0033 AMPONSEM, EMMANUELLA
• AH/PAS/21/0035 NYANNEY, EBENEZER
• AH/PAS/21/0041 ARHIN, JOHN
• AH/PAS/21/0074 KAMARU, ZAKIYYAT ASAMOAH
• AH/PAS/21/0056 FRIMPONG, EMMANUELLA AKOMA
• AH/PAS/21/0067 ARKOH, JESSICA KUM

2
Table of contents

OVERVIEW 01

Acyanotic heart defects 02

Cyanotic heart defect 03

3
 01

OVERVIEW

4
 OVERVIEW
Structural anomalies present at birth affecting the chambers, valves
and major vessels of the heart

Cyanotic Acyanotic
Decreased blood Normal blood oxygen
oxygen saturation saturation with
abnormal cardiac
5
output
OVERVIEW

6
 OVERVIEW
ACYANOTIC CYANOTIC
• VSD • Tetralogy of Fallot
• ASD • Pulmonary atresia
• Aortic stenosis • Transposition of great
• Patent ductus arteriosus arteries
• Pulmonary artery • Persistent truncus
stenosis arteriosus

7
 OVERVIEW
Foetal circulation
• Oxygenated blood from placenta
• Ductus venosus
• Inferior vena cava
• Right atrium + blood from
superior vena cava
• Some blood from shunts into
aorta from pulmonary artery
• Blood returns to the left atrium
from the pulmonary vein
• Blood subsequently pumped out
into the aorta

8
OVERVIEW

9
 02

Acyanotic heart
defects

10
 ATRIAL SEPTAL DEFECT
• Presence of a hole within the interatrial septum
• which allows blood to shunt from the left atrium (high pressure) to right side
• This won't cause cyanosis because the left side which contains oxygenated blood will
push blood to the deoxygenated circuit (right side) which will pump blood to the
pulmonary circulation.

CAUSES
1. Chromosomal abnormalities;
Eg; Down syndrome thus trisomy 21s

2. Large alcohol consumption: this alters the development of the fetus

11
 PATHOPHYSIOLOGY
• Septum primum a ligament structure grows from the upper boarder to the
lower part( intermediate septum) and makes a hole in it called the ostium
secundum.

• A tissue forms called the septum secundum which is meant to close the gap
formed known as the foramen ovale.

• This closure becomes a scar ones the baby is born. But if this closure
doesn't happen, it leaves a space for the left atrial blood to shunt to the right
atrium.

12
 Types of ASD.
 Primum ASD.
This is where the septal primum does not come all the way down and allows
blood to shunt.

 Septum secundum ASD.

In this the septum secundum doesn't come all the way down to block the ostium
ovale allowing blood to move from left to right. (This is more common)

 Patent Foramen Ovale

13
 Clinical Presentation.
1. Systolic ejection murmur.
• increase in right ventricular blood leading to more blood getting into the
pulmonary artery which creates a turbulence and precipitate a murmur

2. Fixed split s2.

• Because the right ventricle has a lot of blood it takes more time to pump all this
blood which causes the pulmonary valve to close late causing a murmur.

3. Diastolic Rumble.
• Since more blood flows to the atrium then more blood passes through the
tricuspid valve to get to the right ventricle. This causes a rumbling sound at the
lower left sternal

14
 DIAGNOSIS.
 EKG.
Right ventricular hypertrophy, right atrium enlargement, right blockage of bundle
branches.

 Chest x-ray.
Increased pulmonary vasculature. Right atrial enlargement

 ECHO
Stunt of blood from left atrium to right atrium in colour Doppler

15
 TREATMENT.
If the defect is small it closes spontaneously but if it's big and it causes symptoms
then a surgical closure using a transcatheter

16
 VENTRICULAR SEPTAL DEFECT
• A hole in the heart that's present at birth (congenital heart defect).
• The hole is between the lower heart chambers (right and left ventricles).
• It allows oxygen-rich blood to move back into the lungs instead of being pumped to the rest of the
body.

Main causes are;

1. Chromosomal abnormalities.
Eg; Down Syndrome thus trisomy 21s

2. Intrauterine infection. This is by the TORCH infections specifically the R which is Rubella.

3. Maternal diabetes

17
19
 EPIDEMIOLOGY

• Most common congenital heart lesion (15-20%)

• Associated with Down’s syndrome (AVSD)

18
 PATHOPHYSIOLOGY
• Muscular portion of the interventricular septum moves up from the apex of the ventricles to the
intermediate septum.
• A membranous membrane also comes down from the intermediate septum down to the apex which
comes to meet. So if there is a defect in any of the formations then this causes the VSD.

Membranous VSD.
• Is when the membranous part do not form well

Muscular VSD.
Is when the muscular portion do not form or malformed causing a swish VSD.

20
 SYMPTOMS

Symptoms differ depending on the size of the defect:

• Small – may be asymptomatic, normal growth

• Moderate – poor feeding, failure to thrive (FTT), short of breath (SOB)
• Large – poor feeding, FTT (falls below centiles), SOB, sweaty and pale with feeds

21
 EPIDEMIOLOGY / TIME OF
PRESENTATION
• Most common congenital heart lesion (15-20%)
• Associated with Down’s syndrome (AVSD)

TIME OF PRESENTATION
• Antenatal diagnosis at 16-18 weeks
• Presentation at 6-8 weeks
• Congestive heart failure typically presents after 4-6 weeks
• Persistent pulmonary hypertension of the newborn (PPHN) may become established
by 6-12 months
22
 CLINICAL FINDINGS
Palpate:
• Check for the presence of a thrill
• Might be useful to palpate the liver (enlarged in heart failure)

Auscultate:
• Pan-systolic murmur heard loudest at the lower left sternal border (LLSB)
• Typically grade 3-4
• Loud P2 suggests the presence of pulmonary hypertension

23
 INVESTIGATIONS
Pulse oximetry – to determine the level of oxygen saturation

Echocardiography – visualize defect directly

CXR – cardiomegaly and pulmonary edema (increased pulmonary vascular markings) if

severe VSD (presence of heart failure), enlarged pulmonary artery

ECG:
In patients with moderate or large VSD,
• LV hypertrophy manifesting as increased voltage in V5 and V6 or leads II, III,
and a VF
In patients with elevated RV pressure,
• RV hypertrophy often manifesting as tall R waves in leads V4R and V1, or
upright T waves in these leads beyond the first 24 hours of life, in addition to
LVH
24
 MANAGEMENT
Small lesion:
• < 5mm usually close spontaneously, no repair required (30-40%)

Moderate lesion:
• Diuretic therapy (furosemide and spironolactone)
• Feeding with high caloric feeds (Infantrini)

Large lesion:
• Manage as per moderate lesion
• Optimize weight gain for surgery
• Schedule for surgery before 12 months to prevent persistent pulmonary hypertension
of the newborn (PPHN)

25
 Patent ductus arteriosus
• is a congenital heart defect characterized by the persistence of a fetal blood vessel
known as the ductus arteriosus, which fails to close after birth.
• the ductus arteriosus connects the aorta to the pulmonary artery
• Normally it is supposed to close to form the ligamentum arteriosus but in this
case it stays open which allows blood to shunt from the aorta into pulmonary
artery ( high pressure to Low pressure)

• This condition occurs in approximately 5-10% of all congenital heart defects.

26
 CAUSES.
1. Large alcohol consumption

2. Intrauterine infection; usually by the rubella infection

3. Chromosomal abnormalities like Down syndrome thus trisomy 21s

27
PATHOPHYSIOLOGY

28
 PATHOPHYSIOLOGY
• the ductus arteriosus is supposed to close when a baby is born to form the ligamentum
arteriosus but in this case it stays open.
• In the fetus the pressure of the pulmonary artery is higher than that of the aorta because
of the physiological mechanism to constrict the pulmonary artery to prevent blood from
getting to the lungs ( because it is not fully developed) and so the ductus arteriosus is
there to shunt blood from the high pressure pulmonary artery to the low pressure aorta.
• But in a baby the Pulmonary artery dilates and thus the pressure in the aorta becomes
more than in the pulmonary artery and due to this if the ductus arteriosus is not closed,
blood turns to shunt from the aorta to the pulmonary artery
29
CLINICAL PRESENTATION
1. Continuous "machine-like" murmur. It is continuous because the aortic
pressure is higher than the pulmonary pressure in both systole and diastole
therefore in whether systole or diastole, blood is shunting to the pulmonary
artery causing a murmur.
2. Wide pulse pressure. During the systole, the left side contracts and pumps
blood into the aorta which increases the systole but some of the blood is
shunted into the pulmonary artery and as a result of this when the heart
relaxes, the diastole decreases.
Therefore increased systole but decreased diastole

30
 DIAGNOSIS

 EKG:
Mostly normal (no abnormal finding)

 CHEST X-RAY:
Increased pulmonary vasculature

 ECHO:
Shunting of blood from the aorta to the pulmonary artery

31
 TREATMENT
1. Small defects closes spontaneously.

2. Pre-term infants. In preterm infants the PGE1 keeps the ductus arteriosus open.
So drugs like Indomethacin and ibuprofen blocks the Cox enzyme to prevent the
formation of PGE1

3. If it doesn't work, a surgical closure can be done at 6-12months.

32
 COARCTATION OF THE
• outflow or constriction or narrowingAORTA
of the part of the aorta.
• obstruction thus obstruction of blood into systemic circulation.

• In this there is stenosis

• This obstructs blood flow down into the lower extremities but branches of the aortic arch gives
good blood to the head, neck and upper arms. This causes a differential cyanosis.

CAUSES.

1. Chromosomal abnormalities. Turner syndrome thus deletion of an X chromosome in females

(monosomy X)

33
 PATHOPHYSIOLOGY
• there is constriction rings which is considered in relation to the ductus
arteriosus.
• Preductal coarctation (infantile coarctation) : Constriction rings are formed
before the ductus arteriosus/ ligamentum arteriosus/ patent ductus arteriosus.
More common in infants.

• Post ductal coarctation (Adult type); with this the constriction is formed
after the ductus

34
 CLINICAL PRESENTATION
1. Preductal coarctation:
• pressure in the aorta after constriction will decrease

• making the pressure in the pulmonary artery greater than in the aorta

• the aortic arch vessels will supply good blood to the head, brain, neck and upper arms but
enough blood won't get to the lower extremities.

• In a case where the ductus arteriosus is patent, the deoxygenated blood from the pulmonary
artery will shunt into the aorta mixing with the little oxygenated blood that can get pass the
constriction mixing both oxygenated and deoxygenated blood
• This leads to differential cyanosis giving a "Spiderman" figure.

35
 CLINICAL PRESENTATION
2. Post ductal coarctation:
a. Increased blood to the upper body can cause headaches, ringing sensations in ears called
tinnitus ad Barry aneurysm which can lead to increased intracranial hemorrhage and
pressure

b. Left ventricular hypertrophy. This is because the left side needs to pumps more blood to
beat the pressure in the aorta leading to thickening.

c. High BP because pressure in the aorta will increase. It will also cause claudication thus pain
in the lower limb due to less blood supply and decreased oxygen.
So Bp of upper extremity is increased whiles Bp of lower extremities is decreased

36
 DIAGNOSIS
EKG:
• Left Ventricular hypertrophy ( more common in adult types)

Chest X-ray:
• a "3" sign due to the constriction
Rib notching: because the thoracic vessels will now have to supply the intercostal
spaces. This causes pulsations.

ECHO:
• shows stenotic lesions.

37
 TREATMENT
1. Preductal coarctation: keep PDA open by administering PGE1.
Surgical resection; cut constriction ends and join anastomosis.

2. Post ductal; Ballooning the constriction to allow blood to flow to lower

extremities
End to end anastomosis.

38
 03

Cyanotic heart
defects

39
 Tetralogy of Fallot
 This is a heart defect made up of four problems:
• Ventricular Septal Defect (VSD)
• Overriding aorta
• Pulmonary stenosis
• Right ventricular hypertrophy
This condition result in cyanotic or bluish babies.

40
 PATHOPHYSIOLOGY
 Ventricular septal defect:
• is a hole between the two lower chambers of the heart (ventricles)
The hole allow oxygen rich blood to mix with oxygen poor blood.

 Overriding aorta:
• The aorta has moved forward over the hole of the ventricles.
This allows oxygen poor blood from the right ventricle to flow into the aorta

 Pulmonary stenosis:
• Blood vessels going into the lungs (pulmonary artery) is marrowed and the pulmonary valve
doesn't open all the way
As a result less blood reaches the lungs

 Right Ventricular hypertrophy:

• The walls of the right ventricle is thicker than normal
This result due to the increase workload on the right ventricles to pump blood to
40
PATHOPHYSIOLOGY

42
 Causes
The exact cause of tetralogy of Fallot is unknown.
Some things may increase the risk of a baby being born with tetralogy of Fallot.

Risk factors include:

 Family history.
 Having a virus during pregnancy. This includes rubella, also known as German
measles.
 Drinking alcohol during pregnancy.
 Eating poorly during pregnancy.
 Smoking during pregnancy.
 Mother's age older than 35.
 Down syndrome or DiGeorge syndrome in the baby.

43
 Symptoms
Tetralogy of Fallot symptoms depend on how much blood flow is blocked from
leaving the heart to go to the lungs.
When there is increased ejection of deoxygenated blood into the systemic
circulation resulting to server cyanosis it termed as tet spell

Symptoms may include:

o Blue or gray skin color.
o Shortness of breath and rapid breathing, especially during feeding or exercise.
o Trouble gaining weight.
o Getting tired easily during play or exercise.
o Crying for long periods of time.
o Fainting.
44
 Investigations/ diagnosis
Tetralogy of Fallot is often diagnosed soon after birth.
 Your baby's skin may look blue or gray.
 A whooshing sound may be heard when listening to the baby's heart with a
stethoscope.

TEST
 Oxygen level measurement.
 Echocardiogram
 Electrocardiogram, also called ECG or EKG.
 Chest X-ray.

45
 Management

All babies with tetralogy of Fallot require surgical repair (either temporary or
permanently

Administering of Prostaglandin E to keep the ductus arteriosus

46
Transposition of the great arteries
• Transposition of the great arteries is a congenital heart defect where the aorta
arises from the right ventricle and the pulmonary artery arises from the left
ventricle, leading to impaired circulation of oxygenated blood.

• Infants with TGA typically present with symptoms shortly after birth or within
the first few weeks of life.

47
 Epidemiology

• TGA is the most common cause of cyanosis in the newborn

• TGA occurs in 5–7% of all CHD, that is approximately 20–30 incidences per 100,000
livebirths Incidence is higher in male infants, approximately 60-70%

Types
• There are 2 main types;

1. Dextro transposition of great arteries

2.Levo transposition of great arteries

48
 Pathophysiology
Indextro-TGA
• the pulmonary and systemic circulation run in parallel
• causing oxygenated blood to recirculate only in the pulmonary circulation and
deoxygenated systemic blood to by pass the lungs.
• This results in cyanosis unless there is mixing of oxygenated blood and deoxygenated
blood.

3 common anatomic sites for mixing of oxygenated and deoxygenated blood in transposition
of the great arteries to allow life to be sustained:
 Patent foramen ovale or atrial septal defect
 Ventricular septal defect
 Patent ductus arteriosus

49
Long term follow up and counselling in the future if fema

le patients wish to get pregnant

51
 Pathophysiology
In levo-TGA [also called as CC-TGA
• the ventricles have switched places as opposed to the arteries and thus this is
acyanotic as deoxygenated blood can return from the systemic circulation and
enter the pulmonary circulation to be oxygenated before entering the systemic
circulation again.
• Nevertheless, the right ventricle and tricuspid valve is not accustomed to the
higher pressures of the left side of the heart and thus,
• there is hypertrophy over time, which can result in tricuspid regurgitation and
heart failure.

50
Long term follow up and counselling in the future if fema

le patients wish to get pregnant

54
 Signs and symptoms
 cyanosis
 tachypnoea,
 tachycardia,
 Poor feeding

Risk factors
 Family history
 Maternal age above 40
 Infection like rubella
 Alcohol consumption
 Maternal diabetes

52
 INVESTIGATION
Diagnostic tests for TGA include
 echocardiography,
 chest X-ray

Management
Initial management:
 Emergency prostaglandin E1 infusion to keep the ductus arteriosus patent as a
temporary solution that allows mixing of blood
 Emergency atrial balloon septostomy to allow for mixing

Definitive and Long‐term management:

 Surgical correction, commonly arterial switch operation [ASO] is usually
performed before the age of 4 weeks.
53
Conclusion

55
References
1. Congenital anomalies [website]. Geneva: World
Health Organization; 2016 (
http://www.who.int/mediacentre/factsheets/fs370/en/in
dex.html
external icon, accessed 12 February 2020).
2. Sun, R., Liu, M., Lu, L., Zheng, Y., & Zhang, P.
(2015). Congenital Heart Disease: Causes, Diagnosis,
Symptoms, and Treatments. Cell biochemistry and
biophysics, 72(3), 857–860.
https://doi.org/10.1007/s12013-015-0551-6
3. Scott, M., & Neal, A. E. (2021). Congenital Heart
Disease. Primary care, 48(3), 351–366.
https://doi.org/10.1016/j.pop.2021.04.005
4. Ossa Galvis, M. M., Bhakta, R. T., Tarmahomed, A., &
Mendez, M. D. (2023). Cyanotic Heart Disease.
In StatPearls. StatPearls Publishing.

56
Thanks!

CREDITS: This presentation template was created by Slidesgo, including icons by Flaticon, and
infographics & images by Freepik

57