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ADULT CONGENITAL HEART DISEASE
Dr O.O. Oni
Consultant Cardiologist,
Bowen University Teaching Hospital, Ogbomoso
Outline
• Introduction
• Brief embryology
• Aetiology
• Specific heart diseases• Atrial septal defects• Ventricular septal defects• Coarctation of the aorta• Patent ductus arteriosus• Ebstein’s anormaly
• Summary
• Conclusion
Introduction• Congenital heart diseases(CHD) are heart disorders that children are
born with.
• They are the leading cause of congenital defects and the no. 1 cause of non-infectious mortality in the 1st year of life
• Many congenital heart diseases are not compatible with life, with many infants dying within the first year of life
• However, with advancement in medicine and surgical interventions, many people with complex CHD are now surviving into adulthood
• There is therefore a need to study theses disorders so as to be able to make swift diagnosis and reduce both morbidity and mortality from these conditions.
Cyanotic CHD
• Tetralogy of Fallot
• Transposition of the great arteries
• Tricuspid atresia
• Total anomalous pulmonary drainage
• Common Truncus arteriosus
• Ebstein’s anormaly
• Eisenmenger Physiology
Common Congenital heart diseases
• Bicuspid aortic valve
• Patent foramen ovale
• Atrial Septal defects
• Ventricular septal defects
• Coarctation of the Aorta
• Ebstein’s anormaly
• Tetralogy of Fallot
Atrial septal defects
• This is one of the commonest CHD
• Constitutes about 5-10% of all CHD
• Is due to incomplete development of the atrial septum in cardiac morphogenesis
• Septum primum first separates the primitive atrium into two, fusing with the AV endocardial cushions-primum ASD
• Perforations form within the septum primum before it fuses with AV cushions, forming the ostium secundum
• The septum secundum descends on the right of the septum primum and occluded the ostium secundum.-PFO
Primum ASD
• Constitutes 15-20% of all ASDs
• Commoner in males than females
• Involves the AV septal defect, cleft mitral valve and common AV canal
• ECG shows left QRS deviation
• Commonest ASD in down syndrome
Secundum ASD
• The most common ASD(70-80% of all ASDs)
• F:M ratio- 2:1
• ECGs showed incomplete Right bundle branch block and Right QRS axis deviation
• Rheumatic mitral stenosis and ASD: Lutembacher syndrome
• Associated with mitral valve prolapse and other CHD
Sinoseptal defects
• No true communication between the atria
• About 5% of all ASDs
• Communication usually occurs at the level of the SVC, IVC and may possibly involve the unroofing of the coronary sinus.
Ventricular septal defects• Prevalence unknown- most close spontaneously within the first year of life
• May occur in isolation(10% of CHD) or as part of syndromes e.g TOF
• M:F seems equal
• Though essentially pathologic, it could be life-saving
• Types: based on extent of shunt• Restrictive-QP/Qs: ≤1.4:1
• Moderately restrictive 1.4-2.2:1
• Non- restrictive->2.2:1
• Types- based on part affected• Membranous:70-80%
• Muscular:5-20%
• Supracristal: 5-7%
• AV or inlet VSD:5-8%
Ventricular Septal defect
1. Atrioventricular or inlet
2. Muscular
3. Membraneous
4. Outlet/sub-arterial/sub-conus
Pathophysiology of large VSDs
• RV vol. overload
• High output state of the LV
Large VSD
• RV dilatation
• RV hypertrophy
Cardiomegaly• Pulmonary
hypertension
• Eisenmenger syndrome
Cyanotic heart disease
Eisenmenger syndrome
Erythrocytosis
Pulmonary Haemorrhage
Endocarditis
Cerebral abscess
Ventricular arrhythmias
Clinical findings
• NB: depends on size, location, duration, intervention& co-morbidities
• Asymptomatic, incidental finding- especially small VSD
• Breathlessness, undue fatigue
• Leg swelling, poor appetite, early satiety, pain in the right upper abdominal region
• Fever, cough, haemoptysis
• Sudden onset hemibody weakness, seizures, confusion, inability to speak
• Headache, blurring of vision
Management• NB: depends on size, location, duration, intervention& co-morbidities
• Adult, symptomatic cases need intervention- Medical ±Transcatheter/Surgical
• Contraindications to surgery:• Pulmonary vascular resistance ≥ 10 wood units
• Irreversible Pulmonary hypertension
• Eisenmenger syndrome
• Refusal to give consent
• Complications• Arrhythmias- both supraventricular& ventricular
• Conduction abnormalities
• Residual leaks- VSD persistence
• Antibiotic prophylaxis is required in• VSD with cyanotic heart disease• VSD with prosthetic material/patch(for the first 6 months
post op)• VSD with residual leaks at the patch site.
Prognostic factors in VSD
Bad
• Cardiomegaly
• Pulmonary hypertension(PASP≥60mmHg or ½ of systemic BP)
• Symptoms of heart failure
• Aortic insufficiency
Good
• Small shunts
• Normal LV size and function
• Normal response of pulmonary vasculature to vasodilators
• Absence of symptoms of heart failure.
Tetralogy of fallot
• The most common cyanotic CHD(7-10% of all CHD)
• Made up of• Mal-aligned VSD
• RVOT obstruction
• Overriding (or straddling) Aorta
• Right ventricular hypertrophy
• Pentalogy- addition of ASD
• Malignant arrhythmias and heart failure are the commonest causes of death
Tetralogy of Fallot (TOF)
• Named by Etienne-Louis Arthur Fallot in 1888
• Approximately 10% of all complex CHD
• Single developmental error of the terminal portion of the spiral truncoconal septum
• Four distinct components: subpulmonic stenosis, VSD, overriding aorta, and RV hypertrophy
• Often accompanied by other anomalies
Natural History
• Depends on severity of RVOT obstruction
• Cyanosis and exertional dyspnea
• “Tet spell” • profound cyanotic episode secondary to
augmented right-to-left shunt
• Without surgical correction, patients do poorly
Surgical Repair
• Longest surgical history/most studied outcomes
• Palliative surgical shunts
• Classic/complete repair• Infundibular muscle resection, VSD patch, & RVOT
repair
• Typically preformed between 4-6 months of age
• Surgical risk: < 5%
• Survival rates: 85% at 30+ years
Adult Presentation
• Repaired• RVOT obstruction
• Pulmonary or tricuspid regurgitation
• LV/RV dysfunction
• Atrial/ventricular arrhythmias
• Unrepaired• Significant morbidity
• Consider later repair
Transposition of theGreat Arteries (TGA)
• Complete TGA or D-TGA• Embryological inversion of the great arteries
• Ventriculoarterial discordance
• First described by Baillie 1797
• Natural history: >90% mortality in infancy
• Incidence: ~5% of congenital heart disease
• Rare association with syndromes or other anomalies
• Male:Female = 2:1
• Possible association with infant of diabetic mother
Transposition of theGreat Arteries (TGA)
• Complete TGA or D-TGA• Embryological inversion of the great arteries
• Ventriculoarterial discordance
• Congenitally corrected TGA or L-TGA• Embryological inversion of the ventricles
• Atrioventricular & ventriculoarterial discordance (double discordance)
Surgical Repair
• Balloon atrial septostomy• Developed by Rashkind (1965)• Enlarges the atrial communication
• Atrial switch• Performed first by Senning (1958) and later
modified by Mustard (1964)• Atrial baffle is created to direct venous
return to the contralateral ventricle
Adult Presentation
• RV dysfunction
• Tricuspid insufficiency
• Bradyarrhythmias
• Atrial tachycardias
• Obstructed/leaky atrial baffle
Surgical Repair
• Arterial switch• Performed first by Jatene (1976)• Great arteries transected and reattached to
appropriate AV valve• Coronary ostia also transplanted• Surgical treatment of choice• Excellent outcomes so far
Adult Presentation
• Coronary perfusion issues
• Supravalvar aortic and pulmonic stenosis
• Aortic root dilatation and valvular insufficiency
• Branch pulmonary stenosis
Ebstein’s Anormaly
• Rudimentary posterior and septal tricuspid valve cusps
• Large, sail-like anterior tricuspid valve cusp
• Apical displacement of the tricuspid valve apparatus
• Reduction in the right ventricular size and compensatory huge right atrium
Patent ductus arteriosus
• Persistent connection, usually of the left pulmonary artery and the descending aorta(failure to regress, forming ligamentum arteriosum)
• Occurs in 1 of 2000 life births
• 10-12% of all CHD in infants, rare in adults.
• May occlude spontaneously within the first year of life( 3months in term babies; 12 months in pre-terms)
• Characterized by features of left ventricular volume overload
Risk factors for PDA
• Maternal rubella infection
• Birth in high altitudes
• Premature births
• Female sex( F:M-2:1)
• Genetic factors
• Familial factors(3% higher risk in subsequent offsprings)
Physiology- in utero and after delivery
Pulmonary artery
vasoconstriction
Low O2 Tension
High PGE2
Pulmonary artery
vasodilatation
High O2 tension
Low PGE2
Clinical Features• Asymptomatic in 35-40%
• Incidental murmurs increase clinical suspicion-classically, a continuous machinery murmur 1st or 2nd LICS, parasternal edge.
• If symptomatic, • Breathlessness
• Palpitations
• Leg swelling
• Loud P2 and left parasternal heave –signifies pulmonary hypertension
• Finger clubbing/cyanosis of the left hand and both legs-Eisenmenger’s physiology
Investigations
• Chest X- ray: often normal, may show cardiomegaly(dilated LA and LV from volume overload) and increased pulmonary vascular markings
• ECG- non-specific changes
• ECHO: TTE<<TEE in sensitivity(42% to 97%), though almost equal specificity(100%).
• MRI: gives quantitative and qualitative info about the PDA and other congenital abnormalities
Coarctation of the Aorta
• Occurs in 1 in 1550 autopsy cases
• Commoner in • Males(2:1),
• Caucasians,
• Turner syndrome and
• Bicuspid aortic valve
• Autosomal dominant inheritance has been observed
• Life expectancy-35yrs
Co-arctation of the aorta
• Involves incorporation of ductal tissue in the aortic wall
• Most Co-arctation are ‘juxta-ductal’!
• Often involves other left sided heart disease e.g
• Bicuspid aortic valve; valvular/subvalvular stenosis
• PDA
• VSD
• Mitral valve disorders(parachute mitral valve, supravalvular ring, narrow valve)
• Shone complex-CoA and multiple left-sided CHD
Co-arctation of the aorta
• Extra cardiac associations-• Intracranial aneurysms• ocular defects• hypospadias • haemangiomas
• Increases the risk for stroke, ischaemic heart disease but not kidney disease
Clinical features
• Femoral pulse- Diminished and Delayed
• The BP is higher in the arms than the legs
• Fundoscopy-Corkscrew arterioles
Investigations
• MRI- superior to ECHO for imaging the aorta and associated lesions
• Cardiac catheterization: ‘pull-back’ pressure gradient>20mmHg is significant; >50mmHg mandates intervention.
Management• Percutaneous angioplasty
• Baloon angioplasty- procedure of choice for post-surgical re-stenosis
• Complications: stenosis, rupture, aneurysm, dissection
• Stent insertion- intervention of choice in adults and adult-sized adolescents
• Surgery
• Resection with end-to-end anastomoses
• Patch aortoplasty
• Use of subclavian patch
• Complications: spinal cord ischaemia, bowel ischaemia, aneurysm and death
• Medical- largely supportive.
• Antihypertensives
Special Chest X-ray features in CHD
Congenital heart disease X-RAY FeaturesTetralogy of Fallot Boot shaped heart
Total anomalous pulmonary drainage Snowman sign
Partial anomalous pulmonary venous return
Scimitar sign
Ebstein’s anormaly Box shaped heart
Coarctation of the Aorta Number 3 appearance
Transposition of the Great Arteries Egg on a string sign
Endocardial cushion defect Goose neck sign
Summary
• Congenital heart disease are cardiac anormalies that are present at birth, usually as a consequence of maldevelopment.
• These were once exclusively within the domain of the paediatric cardiologists, but these patients are now surviving to adulthood.
• There are classic appearances clinically and with other diagnostic tools which helps with their assessment and diagnosis.
• There is a need to be aware of these pathologies so as to reduce their morbidity and improve their quality of life.