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7/29/2019 Congenital Heart Disease and Other Abnormalities-Viewable-SKempley-2012-MBBS2 (1)
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Congenital heart disease and
other abnormalities
Dr Steve Kempley
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Congenital heart disease
Embryological basis of abnormalities
Compatibility with fetal life
Effect of perinatal physiological changes Effects of structure on postnatal function
Possibilities and limitations of postnatal
therapeutic interventions
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Cardiac embryology
Clusters of angiogenic cells
mesodermal cardiogenic plate
R/L endocardial tubes fuse to single cardiac tube
by day 21, beating by day 23
Folding into bulboventricular loop
Atrial, ventricular and outflow tract septation (Day 28)
Failure of separation can be primary (endocardial cushion
- AVSD) or secondary (ASD or VSD)
Postnatal closure of fetal connections
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AS = Aortic sac BC = Bulbus cordis CC = Conus cordis
SV = Sinus venosus TA = Truncus arteriosus EC = Endocardial cushions
RA = Right atrium LA = Left atrium FO = Foramen ovale
O1 = Ostium primum S1 = Septum primum S2 = Septum secundum
Source: Christa Wellman, John A McNulty, www.meddean.luc.edu
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Fetal circulation
Anatomical connections
Foramen ovale
Ductus arteriosus
Ductus venosus
High resistance pulmonary circulation
Low resistance systemic circulation
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Fetal
circulation
PDA
PFO
Ductus
venosus
Pulmonary
pressure >
systemic
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Transitional
circulation
PDA
PFO
Systemic
pressure >
pulmonary
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Persistent
pulmonary
hypertensionof the
newborn
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Cyanotic congenital heart disease
Cyanosis = deoxygenated Hb>5g/dl in capillary
blood
>3.4g/dl in arterial blood
More obvious in polycythemic neonate, less
obvious in anaemic infant
17% of Hb 20g/dl (SaO2 83%)
24% of Hb 14g/dl (SaO2 76%)
43% of Hb 8g/dl (SaO2 57%)
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Cyanosis-
Congenital heart
disease
Normal alveolar gas
exchange (normal CO2) No dyspnoea
Normal pulmonary venous
saturations
Results from shunting ofdeoxygenated blood from
RL side of circulation
Cyanosis
- Lung disease
(incl. Pulmonaryoedema)
Impaired alveolar gas
exchange (CO2 may be ) Tachypnoea & recession
Reduced pulmonary venous
saturations
Results from oxygendiffusion problems or
ventilation-perfusion
mismatch within the lung
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Cyanotic CHD: Plumbing problems
Transposition of the Great Arteries
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Cyanotic CHD: Restricted pulmonary blood flow
Tetralogy of Fallot
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Other forms of Cyanotic CHD
Tricuspid atresia
Pulmonary valve atresia
Critical pulmonary stenosis
Truncus arteriosus
Total anomalous pulmonary venous
drainage (TAPVD)
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Acyanotic congenital heart disease
Two major groups:
LR shunts which increase pulmonary blood flow
( pulmonary oedema/hypertension)
Left heart outflow tract obstruction (pulmonaryoedema, impaired tissue perfusion, lactic acidosis)
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Acyanotic congenital heart disease
Cyanosis is not a fixed feature
Cyanosis can develop as a secondary feature
Pulmonary oedema impairs gas exchange (will
therefore be dyspnoeic)
Pulmonary hypertension causes RL shunting
(Eisenmenger shunt)
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Acyanotic CHD: LR shunts:
Ventricular septal defect (VSD)
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LR shunts:
Qp:Qs
Ratio of
pulmonary to
systemic blood
flow
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Acyanotic CHD: LV outflow tract obstruction
Preductal Coarctation of the Aorta
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Other forms of Acyanotic CHD
Atrial septal defect
Atrioventricular septal defect
Patent ductus arteriosus
A-V malformations (liver, brain)
Critical aortic stenosis
Complex mixed presentations Hypoplastic left heart
Double outlet right ventricle
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Hypoplastic left heart
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Delayed presentation and initial
treatment
Ductus arteriosus and foramen ovale may :
Bypass obstruction (Tetralogy of Fallot, pulmonary
atresia, coarctation, hypoplastic left heart) Allow mixing (Transposition)
Mild cyanosis is easily missed
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Delayed presentation and initial
treatment
Symptoms only obvious once ductus closes
(usually in first few days of life)
Re-opening ductus (Prostaglandin E) or
enlarging foramen ovale (balloon septostomy
for transposition) can be acutely life-saving
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Treatment of Cyanotic CHD
Establish adequate pulmonary blood flow
Prostaglandin E
Laser+balloon valvotomy (pulmonary atresia)
Modified Blalock-Taussig shunt
Definitive correction of anatomical
abnormality:
Arterial switch operation (Transposition)
Surgical valvotomy
Closure of ventricular/atrial septal defects
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Treatment of Acyanotic CHD
Symptomatic
Expectantsmall muscular VSDs, PDA and
ASD/PFO may close spontaneously
Diuretics +/- ACE inhibitor for LR shunts
Prostaglandin E for LV outflow tract obstruction
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Treatment of Acyanotic CHD
Definitive correction
Percutaneous catheter closure of PDA
Balloon dilatation of valvular stenosis
Repair of coarctation
Open heart surgery for VSD/ASD
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Limiting factors in treatment of CHD
Anatomical disuse atrophy Cannot grow new ventricles univentricular
anatomy may be best solution (e.g. Fontan
operation for tricuspid atresia)
Pulmonary arteries may be too small (use B-T
shunt to enlarge in pulmonary atresia)
Functional
Chronically elevated pulmonary blood flow irreversible pulmonary hypertension (particular
risk with AVSD with trisomy 21, truncus, DORV)
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Eisenmenger syndrome in VSD
secondary pulmonary hypertension reverses
direction of shunt
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Other abnormalities
Neural tube defects
Abdominal wall defects
Cleft lip and palate These are only examples any organ may be
affected eye, brain, gut, urogenital tracts,
bones, limbs
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Failure of normal zipping up of neural
tube
Spina bifida occulta
Meningocoele
Myelomeningocoele (spina bifida)
Encephalocoele
Anencephaly
Neural tube defects
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Primitive streak and neural folds
Dr Mark Hill (2007) UNSW
http://embryology.med.unsw.edu.au/wwwhuman/Stages/Stage11.htm7/29/2019 Congenital Heart Disease and Other Abnormalities-Viewable-SKempley-2012-MBBS2 (1)
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Zipping up of the neural tube
Dr Mark Hill (2007) UNSW
http://embryology.med.unsw.edu.au/wwwhuman/Stages/Stage11.htmhttp://embryology.med.unsw.edu.au/wwwhuman/Stages/Stage12.htm7/29/2019 Congenital Heart Disease and Other Abnormalities-Viewable-SKempley-2012-MBBS2 (1)
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Closure of
neural tube
complete byday 28
Dr Mark Hill (2007) UNSW
M l i l
http://embryology.med.unsw.edu.au/wwwhuman/Stages/Stage12.htm7/29/2019 Congenital Heart Disease and Other Abnormalities-Viewable-SKempley-2012-MBBS2 (1)
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Myelomeningocoele
Simon EPediatr Radiol 2004
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Localised lumbar
myelomeningocoele
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Treatment of myelomeningocoele and hydrocephalus
Closure reduces risk of
infection - does not restore
normal neural function
Hydrocephalus common and
needs V-P shunt
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Neurological consequences of lumbar
myelomeningocoele
Mixed sensory, motor and autonomic problems
Dependent on level of lesion and degree of
neural disruption Loss of bladder control incontinence +/-
urinary retention
Faecal incontinence Paralysis and loss of sensation in legs
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Abdominal wall defects gastroschisis
Gastroschisis full thickness small defect in abdominal
wall lateral to umbilicus
Bowel free within amniotic cavity
Surgical closure possible
Bowel may take 1-3 months to start functioningnormally
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Cleft lip and palate
Failure of fusion of
maxillary and frontonasal
processes
Complete surgicalcorrection possible
Minor abnormalities of
palatal control may persist
Eustachian tube function
risk of conductive hearing
lossArchie
CLAPA
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Congenital abnormalities
Origin mostly during early development (first
trimester of pregnancy)
Understanding embryological origin helps plan
effective treatment
Many primary defects can be surgically
corrected
Secondary effects of abnormalities on organ
growth and development may preclude
complete functional cure