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1. CONGENITAL DISORDERS
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2. Objectives
At the end of this chapter you will be able to ;
• Define a congenital disorder.
• List the causes of congenital disorders.
• Describe manifestations of d/t congenital disorder
• Describe nursing & medical management options of
d/t congenital disorder
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3. Congenital disorder
It is an abnormality of structure or function in
a person, which is present from birth.
It may be clinically obvious at birth, or may
only be diagnosed sometime later in life.
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4. Congenital disorder…
Congenital malformation -only the structural
defects present at the birth.
 Congenital anomaly- Includes all the
biochemical, structural & functional disorders
present at the birth
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5. Con…
Structural congenital disorders can be divided
into two large groups.
• Malformations
• Constraint.
A malformation is a structural congenital
disorder which develops during the first
trimester and is caused by failure of the
embryo to develop normally.
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6. Con…
Constraint is external forces can result in
congenital disorders after the fetus is already
normally formed. That is after the first
trimester.
 There are two types of congenital disorders
due to constraint:
• Deformities: normally formed fetus is pushed
out of shape by a mechanical force in the
uterus
• Disruptions
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7. Common congenital anomalies
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8. 1. Congenital heart diseases
Objectives
At the end of this session you will be able to ;
–Overview normal fetal circulation
–Define CHD
–Discuss the types of CHD
–Describe manifestations of d/t CHDs
–Describe management options of d/t CHDs
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9. Overview of fetal circulation
Knowledge about fetal circulation is absolutely
necessary for proper understanding of congenital
heart diseases.
Umbilical cord:
2 umbilical arteries: return de-oxygenated blood, fetal
waste, CO2 to placenta
1umbilical vein: brings oxygenated blood and nutrients to
the fetus(from placenta)
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10. Con…
Three shunts are present in fetal life:
 Ductus venosus: connects the umbilical vein to the
inferior vena cava
 Ductus arteriosus: connects the main pulmonary artery
to the aorta
 Foramen ovale: anatomic opening between the right and
left atrium.
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11. Con…
 Fetus receives oxygenated blood from the placenta by umbilical
vein, which enters the fetus at the umbilicus.
 The umbilical vein carries blood to the liver & given off
branches to the left lobe to supply the oxygenated blood &
receives the deoxygenated blood from portal vein
 Most of the umbilical venous blood by passes the liver though
the ductus venosus & enters in the inferior vena cava (also
contains the deoxygenated blood from lower extremities), then
to the right atrium
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12. Con…
 From right atrium(RA),1/3rd of return blood enters the
left atrium(LA)though the foramen ovale & the rest 2/3rd
flows to the right ventricle(RV)
 In the LA, there is mixing of blood received from right
atrium with the small amount of venous blood returning
from the lungs through the pulmonary veins.
 From LA, blood flows to the LV which is then pumped in to
ascending aorta & arch of aorta to supply heart, head, neck
& upper extremities.
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13. Fetal circulation con…
 The right ventricular blood is pumped in to the pulmonary
trunk & a small amount of it enters the pulmonary circulation.
 The major portion the blood by passes the non functioning
lungs through the ductus arteriosus in to the descending aorta
&mixed with the small amount of blood from aortic arch which
then supply to lower extremities & other structures below the
diaphragm
 The deoxygenated blood leaves the blood by two umbilical
arteries(branches of internal iliac arteries)
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15. CONGENITAL HEART DISEASES(CHD)
 A problem in the structure of the heart or great vessels, present
at birth.
 Symptoms can vary from non to life-threatening.
Causes of CHD
 Idiopathic in most of the cases
 Chromosomal abnormality
 Adverse maternal conditions (environmental)Congenital infections:
Rubella (PDA), Substance abuse: Alcohol (VSD), Drugs – valproate
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16. Types of congenital heart disease
1. Acyanotic congenital heart disease
 Increased pulmonary blood flow due to left to right shunt
 Ventricular septal defect
 Atrial septal defect
 Patent ductus arteriosus
 Coarctation of aorta
2. Cyanotic congenital heart disease (4T’S)
 Decreased pulmonary blood flow due to right to left shunt
 Tetralogy of fallot
 Truncus arteriosus.
 Transposition of great arteries
 Tricuspid atresia
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18. A cyanotic CHD
Ventricular septal defect
 The commonest congenital heart defect
 40% of all congenital heart diseases
 Small defects (< 5mm) close spontaneously
 Blood shunts from left to right at ventricular level with
excess flow to the lung
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19. VSD…
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20. Con…
Clinical Manifestation
 Small defects with trivial Lt to Rt Shunt
- Mostly asymptomatic
- Loud, harsh holosystolic M at LLSB(sternal border
 Large defects
- Excessive pulmonary blood flow
- Pulmonary hypertension
- Dyspnea, feeding difficulties, poor growth, sweating,
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21. Diagnosis
- Clinical
- CXR - Cardiomegaly
- Increased/Plethoric lung
- ECG
- Echocardiography
Treatment
- Small defects - reassurance
- Large defects - Surgical repair between 6-12m
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22. Atrial Septal Defect
Defect occur in any portion of the atria septum
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23. Diagnosis
 Clinical
 CXR - Right. V & A enlargement
- Large pulmonary artery
- ↑ed pulmonary vascularity
 Echocardiography
Complications - pulmonary Hypertension, Eismenger
syndrome
Treatment
 Surgery-for all symptomatic
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24. Patent ductus arteriosus(PDA)
 Defect range from few mm to large cm
 Left to right shunt at arterial level
 Excess blood flow to the lung
 Enlarged pulmonary artery and left atrium related to blood
volume
 Uncorrected defect leads to pulmonary vascular disease and
flow reversal
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25. PDA…
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26. Patent Ductus Arteriosus…
• Symptoms:
– May be asymptomatic if small
– continuous, often machinery-sounding murmur best
heard over the upper left chest below the clavicle
– Dyspnea, tachypena, tachycardia
– Frequent respiratory infections
– Poor feeding , fatigue,
– No wt gain,
– Irritability
– If PDA is large size ,child may go for congestive heart
failure
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27. Diagnosis
- Clinical
- Chest X-ray
- Echocardiography
Prognosis
- Small PDA - normal life
- Large PDA - CHF
Treatment - Medical-indomethacin( Prostaglandin synthase
inhibitor)
- Surgical closure
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28. Acyanotic CHD…
2.3 Coarctation of the Aorta
• Occur at any site from the arch of aorta to iliac
bifurcation
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Coarctation of the Aorta
Occur at any site from the arch of aorta to iliac
bifurcation
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29. Con …
 Classic signs
1- Disparty in pulse & BP
2 - Radio-femoral delay
3- Systolic M at inter-scapular area
Treatment
- Medical - IV PGE1 in neonatal age
- Surgery
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30. Cyanotic CHD (right – to left shunt)
 Develop symptoms early
 Cyanosis is the main feature
 Respiratory distress
 Signs of CHF if there is severe obstruction or excess flow
to the lung
 The presence of VSD and PDA is life saving by mixing
more oxygenated blood
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31. Tetralogy of fallot
 Tetralogy of fallot comprises:
1.Right Ventricular hypertrophy,
2.Plumonary stenosis
3.VSD and
4. Dextroposition of aorta.
 Deoxygenated blood mixes through
VSD.
 The degree of severity is determined by
the size of pulmonary stenosis.
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32. Presenting Symptoms of TOF
 Diagnosed with first few weeks of life
 Loud murmur
 Cyanosis
 Respiratory distress
 “Tet Spells”
 Infant assume Squatting position(knee chest)
 CXR - Narrow base & uplifted apex
- A boot or wooden shoe heart
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33. Tetralogy of fallot
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34. Transposition of great arteries
 Aorta arise from RV and
pulmonary artery from LV.
 Deoxygenated blood from RV
circulates to the body
 While oxygenated blood goes to
the lungs.
 Patient dies soon unless there is
mixing of the two parallel
circulation via ASD, VSD or PDA.
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35. Clinical manifestations
- Cyanosis, hypoxemia, respiratory distress
- Soft systolic ejection murmur at the lt middle sternal border
or murmur may be absent
Diagnosis
- CXR – mild cardiomegaly with marrow mediastinum (egg-
shaped heart)
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36. Con…
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37. Con…
Treatment principles
- Prostaglandin E
- Surgery
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38. 2. GASTROINTESTINAL MALFORMATION
• Gastroschisis
• Atresias
• Exomphalos
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39. Gastroschisis
In the womb, fetal intestines develop outside
of the abdomen for a brief time.
In normal cases, the intestines return to
the abdominal cavity,andthe baby’s abdomen
closes before birth.
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40. Gastroschisis…
It is an abdominal—wall defect that occurs
on the side of the umbilical cord (umbilicus).
The baby is born with intestines
protruding through this defect, and no
protective sac is present.
It is a life—threatening defect, requiring
immediate intervention
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41. Gastroschisis…
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42. Management
Before operation
Artificial Sac
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43. EXOMPHALOS(OMPHALOCOELE)
Exomphalos is a weak of the baby’s abdominal
wall where the umbilical cord joins it.
This weakness allows the abdominal contents,
mainly the bowel and the liver protrude
outside the abdominal cavity where they are
contained in a loose sac
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44. EXOMPHALOS(OMPHALOCOELE)
 It is a defect in which the bowel or other viscera
protrude through the umbilicus where they are
contained in a loose sac
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45. EXOMPHALOS…
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46. MANAGEMENT
After birth the cord should be clamped well
away from the exomphalos.
The abnormality should be covered with sterile
gauze or plastic wrapping.
Whether the exomphalos is big or small, all
these infants must be urgently Referred
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47. ATRESIAS
It is defined as a congenital absence or
abnormal narrowing of a body opening.
It can affect different sites in the GI tract
:Esophageal, Duodenal, Small bowel, Colonic
or Anorectal.
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48. Esophageal Atresia
It is an obstruction of the esophagus due to a section of
the esophagus which is missing.
It is usually associated with a connection (fistula)
between the lower oesophagus and the bronchi
The feed, which cannot be swallowed, is inhaled into the
lungs. Gastric acid passes from the stomach into the
bronchi, via a fistula, especially when the infants lie
down.
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49. Esophageal Atresia…
 Both inhaled feeds and the reflux of gastric acid
result in respiratory distress.
 Do not feed any infant that you suspect of
having an esophageal atresia.
 The diagnosis is may evidenced by the inability
to pass a nasogastric tube.
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50. DUODENAL ATRESIA
 It is an obstruction of the duodenum.
 Soon after delivery the infant starts vomiting.
 The vomit is often bile stained
 The diagnosis is easily confirmed by an abdominal
X—ray
 Theseinfants must bekept nil per mouth, the stomach
should be emptied via a nasogastric tube.
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51. Cleft lip & cleft palate
• Cleft lip
 The congenital deformity of a cleft the upper lip, on one
or both sides.
• Cleft palate
 A fissure in the midline of the palate due to failure of the
two sides to fuse in embryonic development.
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53. MANAGEMENT
Cleft lip repair. The edges of the cleft between the lip and nose are cuf (A and B). The
bottom ol the nostril is formed with sufure (C). The upper part of the lip tissue is
closed (D), and the stitches are extended down to close the opening entirely (E).
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54. Congenital Anomalies
Of Musculoskeletal System
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55. Club Foot
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56. Club foot…
• It is one of the most common orthopedic
defect
• It occurs approximately 1 in 1000 to 1 in 700
live births
• Boys are affected twice as often as girls
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57. Risk factors
• Sex. Clubfoot is more common in males.
• Family history. If either one of the parents or their other
children have had clubfoot, the baby is more likely to
have it as well.
• Smoking during pregnancy.
• Not enough amniotic fluid during pregnancy.
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58. Pathophysiology
• Club foot is a foot that has been twisted out of
its normal shape or position in utero and is
fixed.
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59. Types of club foot
• Various types of club foot , it is the combination of
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Term Meaning
1.Talipes Foot and ankle
2.Varus Bending inward
3.Valgus Bending outward
4.Equinus Toes are lower than heel
5.Calcaneus Toes are higher than the heel

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61. Types of club foot
• Talipes equinovarus ;
– It is the type of clubfoot that
occurs 95% of cases
– The foot is fixed in planter flexion
and deviate medially, i.e heel is
elevated.
– If the condition is not corrected
the child walks on the toe and
outer border of foot.
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62. Types of club foot…
• Talipescalcaneus
valgus:
– The foot is dorsiflexed
and deviate laterally. That
is heel turned outward
from the midline of the
body.
– If it is not corrected the
child walks on outwardly
turned heel and the inner
border of the foot.
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63. Types of club foot…
• Talipes varus:
– It is due to the heels being turned inward from
the midline if the leg only outer portion of the
sole rest on the floor.
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64. Types of club foot…
• Talipes valgus:
– It due to heel is being turned outward from the
midline of the leg only inner side of the sole rest
on the floor.
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65. Types of club foot…
• Talipes calcaneovarus:
– It is due to the heel being turned
towards the midline of the body
and the anterior part of the foot
being elevated. Only heel rest on
the floor.
• The whole foot bends internal to the
knee.
• The changes affect the muscles,
tendons, ligaments, bone skeleton
and skin of the deformed foot.
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66. Clinical manifestation
• Painless
• Change in shape of the foot
o Either Inward and down ward twistin
– The calf muscles in the affected leg are usually
underdeveloped.
– The affected foot may be up to 1/2 inch (about 1
centimeter) shorter than the other foot.
Diagnosis
Observation
Imaging(x-ray,CT-scan,MRI)
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67. Therapeutic management
The treatment include
• Manipulation of the foot
– It is manipulation or exercise program to
be done several times a day.
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68. Therapeutic management…
• Care of infant in a Denis Browne splint
– This appliance is made of two foot plates
attached to a cross bar. When splint is fitted
to the feet various positions of angulations
can be maintained.
– As the infants kicks the foot are
automatically moved in to correct position.
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69. Denis Browne splint
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70. Therapeutic management…
• Care of infant or child in caste
– Use of caste provide gradual stretching of tight
muscle and contraction of previously relaxed
muscle until a position of overcorrection has
been reached
– Caste has to be replaced every 1-2 weeks
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72. DDH…
• Developmental dysplasia of the hip, occurs
when a child is born with an unstable hip
due to abnormal formation of the hip joint
during early stages of fetal development.
• This instability worsens as the child grows
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73. Causes
It is unknown, but certain factors such as
family history,
intrauterine position,
delivery type and
postnatal positioning are believed to affect the
risk of DDH.
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74. Pathophysiology
• Developmental dysplasia of the hip (DDH)
involves abnormal growth of the hip.
• Ligamentous laxity is also believed to be
associated with hip dysplasia, although this
association is less clear.
– Ligamentous laxity is a term given to describe
"loose ligaments”
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75. Clinical manifestation
• In Infants,
o Shortening of limb on affected side
o Restricted abduction of hip on affected side
o Unequal gluteal folds
o Positive ortolani test
o Positive Barlow test
 Older infant and child
– Affected leg shorter than the other
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76. Therapeutic management
• Treatment varies with the child's age and extent of
dysplasia.
• The goal of treatment is to obtain and maintain a safe,
congruent position of the hip joint to promote normal
hip joint development.
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77. Therapeutic management
• Newborn to age 6 months:
– Pavli harness is used to maintain a safe position of
hip joint . Harness is worn continuously until the hip
is proved stable on clinical examination, usually
about 3- 5 months .
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78. Therapeutic management
Age 6 to 18 months:
– If child has shortening of limb and contracture of hip
adductor and flexor muscle became evident , the
reduction by traction is used for 3 weeks.
– Child under go a closed reduction of hip using
general anesthesia, if the hip is not reducible, an open
reduction is performed. After reduction child is
placed in hip spica cast for 2-4 months until hip is
stable.
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79. Therapeutic management
Older children
– Operative reduction which involve preoperative
traction , tenotomy of contracted muscle .
– When open reduction is performed, the patient wears
a Spica cast for 6 weeks
– Range of motion exercise for restore movement.
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80. Nursing management
• Teaching the parents to apply and maintain the reduction
device
Skin care include
– Check frequently the red areas under the stripes and
clothing
– Gently massage the healthy skin under the stripes once a
daily to stimulate circulation
– Place diaper under the stripes
– Assess for irritation, and maintain cleanliness of child in
cast
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81. CONGENITAL GENITO URINARY
DISORDERS
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82. Anatomic over views
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83. CONGENITAL GENITO URINARY
DISORDER
 These problems usually required surgical
correction.
 Some of them are producing no clinical
symptoms.
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84. Renal agenesis
• Definition :It is the absence of kidney due to failure of
ureteric bud formation.
• It may be Bilateral or Unilateral
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85. Exstrophy of bladder
 It is a congenital malformation in which lower portion of the
abdominal wall and the anterior wall of the bladder are missing so
that bladder is everted through the opening and may found on the
lower abdomen with continuous passage of urine to the outside.
 Male are more commonly affected
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86. Clinical manifestations:
 Urinary dribbling
 Skin excoriation
 Infection and ulceration
 UTI
Diagnosis :
 Cystoscopic examination
 X-ray
 US
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87. Management :
 Surgical closure of the bladder within 48 hours
 Supportive nursing care
 Pre operative care
 Post operative care
 Follow up
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88. Hypospadias
 it is the congenital abnormal urethral opening on
the ventral aspect( under surface ) of the penis.
 Classification :
 Anterior hypospadias(65 to 70%) : it may found as
glandular or coronal or on distal penile shaft
 Middle (10-15%) penile shaft hypospadias.
 Posterior hypospadias(20%) : it may be found on
proximal penile shaft or as penoscrotal,scortal or
perineal type.
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89. Problems related to hypospadias :
1.Painful downward curvature of penis
2.Deflected stream of urine
3.Inability void urine while standing
Management :
surgical reconstruction
Meatotomy
Chordee correction
urethroplasty
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90. Phimosis
 Narrow opening of the prepuce that prevents it being drawn back
over the glans penis.
Management:
 Circumcision
 apply Betamethasone cream
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91. Paraphimosis
 It is the retraction of a phimotic foreskin, behind coronal sulcus.
 It may develop phimotic child which also need for surgical
management by circumcision or reduction with application of
lubricant under deep sedation.
Clinical features :
 edematous
 Severe pain
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92. Nursing management of the child with
urologic surgery
 Preparing for diagnostic procedures
 Involving the parents in child care
 Monitoring intake and output
 Preventing infections
 Providing comfort
 Providing adequate nutrition
 Teaching the parents about related care
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93. Central nervous system Anomaly
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94. Hydrocephalus
 An excess of CSF in the ventricles or in the
subarachnoid space
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95. Classification
1. Obstructive / non communicating : caused by a
block in the passage of fluid.
2. Communicating/ extra ventricular fluid passes
between the ventricles and spinal cord
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96. Diagnostics
 CT scan
 MRI
 Skull X-ray
Management
• Ventricular operational shunt
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97. Neural tube defect
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98. Microcephaly
 Disorder in which brain growth is so slow that it fails
more than three standard deviations below normal on
growth charts.
Causes:
 Intrauterine infection (rubella, cytomegalovirus,
toxoplasmosis)
 Severe malnutrition or anoxia in
infancy
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99. Spinal bifida
 A developmental birth defect involving the neural
tube:
 Incomplete closure of the embryonic neural tube
results in an incompletely formed spinal cord.
 The vertebrae overlying the open portion of the spinal
cord do not fully form and remain unfused and open
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100. Con…
Types:
1. Spinal bifida occulata
2. Myelomeningocele
3. Meningocele
 The most common location of the malformations is
the lumbar and sacral areas of the spinal cord
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101. Con…
Spinal bifida occulata
 no opening of the back, but the outer
part of some of the vertebrae are not
completely closed
 The skin at the site of the lesion may
be normal, or it may have some hair
growing from it
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102. Con…
Myelomeningocele
 Most common
 Portion of the spinal column allows the spinal cord to
protrude through an opening in the overlying
vertebrae
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103. Con…
Meningocele
 Meninges covering the spinal cord herniate through
the unformed vertebrae
 Sacks does not contain part of spinal cord
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104. Management
 No cure for nerve damage
 Closure ofthe opening onthe back
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105. THANK YOU
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