Congenital heart disease and other abnormalities

Dr Steve Kempley

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

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

AS = Aortic sac SV = Sinus venosus RA = Right atrium O1 = Ostium primum

BC = Bulbus cordis TA = Truncus arteriosus LA = Left atrium S1 = Septum primum

CC = Conus cordis EC = Endocardial cushions FO = Foramen ovale S2 = Septum secundum

Source: Christa Wellman, John A McNulty, www.meddean.luc.edu

Fetal circulation
Anatomical connections
Foramen ovale Ductus arteriosus Ductus venosus

High resistance pulmonary circulation Low resistance systemic circulation

Fetal circulation
PDA PFO Ductus venosus Pulmonary pressure > systemic

Transitional circulation
PDA PFO Systemic pressure > pulmonary

Persistent pulmonary hypertension of the newborn

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%)

CyanosisCongenital heart disease

Normal alveolar gas exchange (normal CO2) No dyspnoea Normal pulmonary venous saturations Results from shunting of deoxygenated blood from RL side of circulation

Cyanosis - Lung disease (incl. Pulmonary oedema)

Impaired alveolar gas exchange (CO2 may be ) Tachypnoea & recession Reduced pulmonary venous saturations Results from oxygen diffusion problems or ventilation-perfusion mismatch within the lung

Cyanotic CHD: Plumbing problems Transposition of the Great Arteries

Cyanotic CHD: Restricted pulmonary blood flow

Tetralogy of Fallot

Other forms of Cyanotic CHD

Tricuspid atresia Pulmonary valve atresia Critical pulmonary stenosis Truncus arteriosus Total anomalous pulmonary venous drainage (TAPVD)

Acyanotic congenital heart disease

Two major groups:
LR shunts which increase pulmonary blood flow ( pulmonary oedema/hypertension) Left heart outflow tract obstruction (pulmonary oedema, impaired tissue perfusion, lactic acidosis)

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)

Acyanotic CHD: LR shunts: Ventricular septal defect (VSD)

LR shunts:
Qp:Qs
Ratio of pulmonary to systemic blood flow

Acyanotic CHD: LV outflow tract obstruction

Preductal Coarctation of the Aorta

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

Hypoplastic left heart

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

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

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

Treatment of Acyanotic CHD

Symptomatic
Expectant small muscular VSDs, PDA and ASD/PFO may close spontaneously Diuretics +/- ACE inhibitor for LR shunts Prostaglandin E for LV outflow tract obstruction

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

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)

Eisenmenger syndrome in VSD secondary pulmonary hypertension reverses direction of shunt

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

Neural tube defects

Failure of normal zipping up of neural tube Spina bifida occulta Meningocoele Myelomeningocoele (spina bifida) Encephalocoele Anencephaly

Primitive streak and neural folds

Dr Mark Hill (2007) UNSW

Zipping up of the neural tube

Dr Mark Hill (2007) UNSW

Closure of neural tube complete by day 28

Dr Mark Hill (2007) UNSW

Myelomeningocoele

Simon E Pediatr Radiol 2004

Localised lumbar myelomeningocoele

Treatment of myelomeningocoele and hydrocephalus

Closure reduces risk of infection - does not restore normal neural function Hydrocephalus common and needs V-P shunt

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

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 functioning normally

Cleft lip and palate

Failure of fusion of maxillary and frontonasal processes Complete surgical correction possible Minor abnormalities of palatal control may persist Eustachian tube function risk of conductive hearing loss

Archie CLAPA

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