CONGENITAL HEART DISEASES

PRESENTED BY YASMEEN TAQATQA

SIXTH YEAR MEDICAL STUDENT
DR:BAJES AMRO
 CONGENITAL HEART DISEASE (CHD)

 A DEFECT IN THE STRUCTURE OF THE HEART AND/OR GREAT

VESSELS THAT IS PRESENT AT BIRTH
 CHD IS THE MOST COMMONLY DIAGNOSED CONGENITAL DISORDER
IN NEWBORNS
 APPROXIMATELY 0.8% TO 1.2% OF LIVE BIRTHS WORLDWIDE (8 per
1000 live births)
 MOST OF CHD ARE DIAGNOSED IN NEWBORNS AND EARLY
CHILDHOOD (VSD, AVSD, ToF, TGA, CoA, etc.)
 SOME OF THEM CAN BE DIAGNOSED IN ADULTS: ASD (only smaller defects),
CoA, ccTGA, Ebstein anomaly of TV, etc. (generally less serious forms)
 COMMON CONGENITAL HEART DEFECTS
 Atrial Septal Defect 10%
 Ventricular Septal Defect 30%
 Tetralogy of Fallot 6%
 Transposition of the Great Arteries 4%
 Coarctation of the Aorta 7%
 Patent Ductus Arteriosus 10%
 Aortic Stenosis 6%
 Pulmonary Stenosis 7%
 Other 20%
 ETIOLOGY-RISK OF CHD
 In most cases, the cause of CHD is not known (genetic or environmental)
 Chromosomal abnormalities (Down syndrome, Trisomy 18, Trisomy 13, Turner
syndrome)
 Congenital anomalies (Digeorge syndrome, Williams syndrome, Marfan
syndrome, Noonan syndrome)
 Congenital Infections, esp. Influenza, Rubella
 Medications like benzo’s, ibuprofen, macrodantin, corticosteroids, dilantin
 Drugs of abuse -alcohol, marijuana, cocaine
 Chemicals esp. hair dyes and pesticides
 Maternal conditions like diabetes, and SLE
 CONGENITAL HEART DISEASE
COMMON SYNDROMES/CHROMOSOMAL ANOMALIES

Anomaly Associations
Trisomy 21 VSD, AV Canal
Trisomy 18 VSD, PDA
Trisomy 13 VSD, PDA, Dextrocardia
Turner Coarctation, AS
Noonan PS, HCM
Williams Supravalvar AS, Peripheral PS
Holt-Oram ASD
Marfan Aortic root dilation, MVP
DiGeorge VSD, arch anomalies, TOF
 CHD - diagnosis

Most of CHD are diagnosed in newborn and early

childhood (VSD, AVSD, ToF, TGA, CoA, etc.)

Some of them can be diagnosed in adults: ASD (only

smaller defects), CoA, ccTGA, Ebstein anomaly of TV, etc.
(generally less serious forms)
 CHD – DIAGNOSIS AND FOLLOW-UP
 History: hereditary diseases, previous sibling with CHD, viral infections in pregnancy,
maternal medicines, maternal illness….
 Symptoms and Signs (palpitations, SOB, easy fatigue, failure to thrive, cyanosis, edema, heart
murmurs…)
 ECG, pulse oximetry
 Holter ECG (24-hours monitor)
 Chest X-ray
 Echocardiography: Best modality to diagnose CHD (very good for detecting intra-cardiac
abnormalities)
 Cardiac CT and MRI (precise anatomy of heart and big vessels, assessment of RV volume and
function, quantification of valvular regurgitation etc.)
 Invasive testing – catheterization – haemodynamics (shunt quantification, pulmonary
pressure/resistance measurement etc.) or electrophysiology testing (assessment of arrhythmias)
 CHD – GENERAL PROBLEMS
AND COMPLICATIONS
 Heart failure (valvular defect, shunts, volume and/or pressure overload, RV in
systemic position)
 Pharmacotherapy (ACEi, BB, diuretics…)
 CRT (Cardiac resynchronisation therapy) – biventricular stimulation in case of
ineffective (dyssynchrony) contraction
 Heart transplantation
 Arrythmias and SCD (sudden cardiac death)
 Risk stratification, investigation, and choice of treatment are often different from
those applied to the normally formed heart (drugs poorly tolerated, side effects) –
EP and ablation is preferred
 Onset of arrhythmias may be a signal of hemodynamic decompensation
 SCD – especially in: ToF, TGA, ccTGA, aortic stenosis (AS), and univentricular
hearts- ICD
 CHD – GENERAL PROBLEMS
AND COMPLICATIONS

Infective endocarditis
 High risk particularly in:
 Cyanotic CHD without surgical repair, residual defects, palliative shunts
 Prosthetic valves
 Residual defects after surgical or cath. closure
 Patients with previous IE
 CHD – GENERAL PROBLEMS
AND COMPLICATIONS
Pregnancy
 Generally well tolerated but;
 Extremely High risk (high mortality 30-50%):
 Severe pulmonary art. hypertension (Eisenmenger syndrome)
 High risk
 Cyanosis (esp. SpO2 <85%)
 Stenotic left valve disease (severe AS, MS)
 Poor EF LV (<40%)
 NYHA III-IV
 Aortic root dilatation (Marfan syndrome)
 Arrhythmias
Congenital heart disease with high risk and extremely high risk
for pregnancy (1)
Significantly increased risk of maternal Extremely high risk of maternal mortality or
mortality or severe morbidity (mWHO class severe morbidity (mWHO class IV)*
III) (cardiac event rate 19–27%) (cardiac event rate 40–100%)
Unrepaired cyanotic heart disease Pulmonary arterial hypertension
Moderate LV impairment (EF 30–45%) Severe LV impairment (EF <30% or NYHA class
III–IV)
Systemic RV with good or mildly decreased Systemic RV with moderate or severely
ventricular function decreased ventricular function
Fontan circulation. If the patient is otherwise Fontan with any complication
well and the cardiac condition uncomplicated
Severe asymptomatic AS Severe symptomatic AS

©ESC
*Pregnancy should definitely be avoided in women with these conditions.
Modified from the ESC Guidelines for the management of cardiovascular disease during pregnancy.

www.escardio.org/guidelines Congenital heart disease with high risk and extremely high risk
2020 ESC Guidelines for the management of adult congenital heart disease (ACHD)
(European Heart Journal 2020 - doi/10.1093/eurheartj/ehaa554)
for pregnancy (2)
Significantly increased risk of maternal Extremely high risk of maternal mortality or
mortality or severe morbidity (mWHO class severe morbidity (mWHO class IV)*
III) (cardiac event rate 19–27%) (cardiac event rate 40–100%)
Moderate mitral stenosis Severe mitral stenosis
Moderate aortic dilatation (40–45 mm in Severe aortic dilatation (>45 mm in Marfan
Marfan syndrome or other HTAD; 45–50 mm syndrome or other HTAD, >50 mm in BAV,
in BAV, 20–25 mm/m2 in Turner syndrome) >25 mm/m2 in Turner syndrome)
Mechanical valve Severe (re-)coarctation

©ESC
*Pregnancy should definitely be avoided in women with these conditions.
Modified from the ESC Guidelines for the management of cardiovascular disease during pregnancy.

2020 ESC Guidelines for the management of adult congenital heart disease (ACHD)
www.escardio.org/guidelines (European Heart Journal 2020 - doi/10.1093/eurheartj/ehaa554)
 CHD – GENERAL PROBLEMS
AND COMPLICATIONS

Recurrence rate of CHD in offspring 2-50%

 Higher risk when the mother has CHD
 Highest recurrence risks in single gene disorders and/or chromosomal
abnormalities (Marfan, Noonan, and 22q11 deletion syndromes -
DiGeorge, Holt – Oram syndrome)
 Aortic stenosis 13–18%
 VSD 6 – 10%
 Other defects recurrence rate 2-4%
 CHD: CLASSIFICATION

Malpositions of Heart
Dextrocardia may be accompanied by situs inversus
Shunts
Obstructions (Obstructive CHD)
 SHUNTS
 Left to Right shunts (Acyanotic or Late Cyanotic group): cyanosis months or years
after birth
1. Ventricular septal defect (VSD)
2. Atrial septal defect (ASD)-
3. Patent ductus arteriosus (PDA)
 Right to Left shunts (Cyanotic group)
1. Tetralogy of Fallot (TOF)
2. Transposition of great arteries
3. Persistent truncus arteriosus
4. Tricuspid atresia and stenosis
 L→R SHUNT
 ↑pulm blood flow → ↑pulm pressure →RVH →potential cardiac failure
 ↑pulm blood flow → medial hypertrophy + intimal proliferation to
prevent pulmonary edema
 prolonged ↑pulm pressure (> even systemic pressure) → reversing the
flow R →L: deoxygenated blood in systemic circulation → late cyanosis
or Eisenmenger syndrome
 Once significant pulmonary HT develops, surgical Rx of cardiac defects
not possible
 R→L SHUNT
 ↓pulm blood flow →poor oxygenation of blood → enters Lt heart
→systemic circulation → dusky blueness of mucus membranes and skin
(Cyanosis)
 Functional anemia → increased synthesis of Hb + RBC mass
(polycythemia)
 Emboli from peripheral veins do not undergo filtration action of lungs
→enter Lt heart →embolize to systemic circulation(paradoxical emboli) →
cause brain infarction & abscess
 Clubbing (hypertrophic osteoarthropathy) of tips of fingers and toes
ATRIAL SEPTAL DEFECT
ANATOMY/PREVALENCE

• Secundum 75%
• Primum 15%
• Sinus Venosus 10%
• Cor Sinus (rare)
 ATRIAL SEPTAL DEFECT - PATHOPHYSIOLOGY
 Naturally L to R shunt (higher BP in LA)
 Volume overload of RV – dilation RA+RV
 Arrhythmias (Atrial fibrillation, flutter) (5th decade)
 Increase of transpulmonary flow – reactive higher pulmonary vascular
resistance
 Pulmonary hypertension can develop in 20s and 30s if large ASD is not
repaired
 Severe PAH (only in 5%) and bidirectional shunt (Eisenmenger physiology)
 Paradoxical embolism (thrombus from lower limb veins through ASD to
systemic circulation e.g. CNS)
ATRIAL SEPTAL DEFECTS(ASD)- CLINICAL

 Majority repaired in childhood, but may present in adolescence/adulthood

 Asymptomatic
 Murmur, abnormal ECG/CXR
 Symptomatic
 Dyspnea, palpitations, fatigue
 CVA/emboli
 Atrial Fibrillation
 ATRIAL SEPTAL DEFECT
CLINICAL FEATURES

Symptoms – exertional shortness of breath, fatigue, palpitation

Signs – fixed splitting of the second heart sound, systolic
pulmonary flow murmur, mid diastolic rumble
ECG – iRBBB, right axis deviation
and/or
Symptoms and signs due to paradoxical embolism
AUSCULTATION IN ASD

 Increased flow across the pulmonary valve

produces a systolic ejection murmur and fixed
splitting of the second heart sound.
 Fixed splitting of S2 may in part be due to delayed
right bundle conduction.
 Increased flow across the TV produces a diastolic
rumble at the mid to lower right sternal border.

•Older pt loses pulm ejection murmur as

shunt becomes bidirectional
• Signs of pulm HTN/ CHF may predominate
 ASD: THERAPY
 Percutaneous Closure
 Only for secundum (contra in others)
 Adequate superior/inferior rim around ASD
 No R-L shunting (Eisenmenger)
 Surgical Closure
 Good prognosis:
 closure age < 25, PA pressure <40
 If >25 or PA>40, decreased survival due to CHF, stroke, and afib
 ATRIAL SEPTAL DEFECT - TREATMENT
 DEPENDS ON SIZE , AND TYPE
 SURGERY vs DEVICE CLOSURE
 Usually around age 4

 INDICATON FOR INTERVENTION

 Right heart enlargement
 Large size
 Pulmonary vascular resistance (PVR)

 ASD secundum – (if possible catheterisation

device closure is preferred)
 aRV enlargement with
increased stroke volume.
bProviding there is no PAH

or LV disease.
cIn elderly patients not

suitable for device closure,

carefully weigh surgical risk
vs. potential benefit of ASD
closure.
dCarefully weigh the

benefit of eliminating L–R

shunt against the potential
negative impact of ASD
closure on outcome due to
an increase in filling
pressure (taking closure,
fenestrated closure, and no
closure into consideration).

©ESC
2020 ESC Guidelines for the management of adult congenital heart disease (ACHD)
www.escardio.org/guidelines (European Heart Journal 2020 - doi/10.1093/eurheartj/ehaa554)
 VENTRICULAR SEPTAL DEFECT

• Most common form of

congenital heart defects

• Several types

• Presentation determined by VSD

size and PVR

• Asymptomatic if small
 VENTRICULAR SEPTAL DEFECT
PATHOPHYSIOLOGY

 Naturally L to R shunt (much higher BP in LV)

 If significant defect:
 Overload of RV- dilatation
 Volume overload of LV – dilation
 Increase of transpulmonary flow and pressure in PA –
reactive increase pulmonary vascular resistance
 Severe PAH and bidirectional shunt (Eisenmenger
physiology)
 VSD PATHOPHYSIOLOGY

 Restrictive VSD is typically small- significant pressure gradient exists

between the LV and RV (high velocity), with small shunt (Qp/Qs </= 1.4:1)
 Moderately restrictive VSD- moderate shunt (Qp/Qs 1.4 to 2.2:1)
 Large/non restrictive VSD- large shunt (Qp/Qs > 2.2:1)
 Eisenmenger VSD- irreversible pulmonary HTN and shunt may be zero or
reversed (R-L)
 VSD NATURAL HISTORY
 Restrictive: typically no hemodynamic impact and may close
spontaneously
 Moderately restrictive: LV overload and dysfunction along with variable
increase in PVR
 Large/non-restrictive: LV volume overload earlier in life with progressive
pulm HTN and ultimately Eisenmenger syndrome
 60% of small to moderate muscular VSDs close spontaneously
 35% of small perimembranous VSDs close spontaneously
 Inlet / outlet VSDs do not close spontaneously
 VSD-CLINICAL FEATURES
 Cl features: depend on size of lesion
 Peds:
 Murmur
 Dyspnea, CHF, Failure to thrive
 Adults:
 Asymptomatic murmur- harsh, pansystolic, left sternal border
 Mod restrictive-dyspnea, Afib, displaced apex, murmur, S3
 Non restrictive Eisenmenger VSD- central cyanosis, clubbing, RV heave, loud
P2
 CLINICAL PRESENTATION: MODERATE TO LARGE VSD

 Symptoms develop around 6 – 8 weeks of age

• Symptoms occur as
 Delayed growth and development PVR falls (PVR high
 Decreased feeding/activity tolerance during fetal life)
 Recurrent pulmonary infections • Decreases by 50% in the
first 24 hours
 Pulmonary hypertension can develop as early as 6 –
• Falls to adult level at 6-
12 months

8 weeks of life
ECG: LVH / LAE. Might have biventricular hypertrophy
 Chest Xray: Cardiomegaly, Increased pulmonary vascular markings
 aLV enlargement with increased stroke volume.

©ESC
bIncludes all patients with desaturation at rest (Eisenmenger physiology) or on exercise
cCareful individual decision in expert centres is required.

2020 ESC Guidelines for the management of adult congenital heart disease (ACHD)
www.escardio.org/guidelines (European Heart Journal 2020 - doi/10.1093/eurheartj/ehaa554)
 PATENT DUCTUS ARTERIOSUS (PDA)
 Communication between the pulmonary
artery and the aorta
 Location- distal to the subclavian artery
 F:M = 2:1
 Maternal rubella, prematurity
 Asymptomatic if small
 Signs of pulmonary over-circulation if
large
 PATENT DUCTUS ARTERIOSUS
 Ductus arteriosus is normal connection b/w aorta and bifurcation of
pulmonary A
 Normally closes at 1st or 2nd day of life, > 3months persistence is abnormal
 Cause: possibly due to ↑ levels of PGE2 after birth - seen in children with
respiratory distress syndrome - pharmacologic closure with indomethacin
(PGE2 inhibitor)
 Most often does not produce functional difficulties at birth
 A narrow ductus: no effect on growth and development during childhood
 PDA-PHYSICAL EXAMINATION

 Wide pulse pressure – bounding peripheral pulses

 Hyperkinetic apex
 Continuous murmur (Harsh machinery like
murmur)
 Continuous thrill in second left ICS
 If pulmonary hypertension -> differential cyanosis
 ECG and CXR findings similar to VSD
 PATENT DUCTUS ARTERIOSUS

PDA diagnosed only by ECHO with no cardiac murmur or

cardiac enlargement needs no treatment
Significant PDA in an adult carries a higher risk at surgery
compared to children
PDA can be closed with a device at cardiac cath

36
 aLV enlargement with increased stroke volume.
bIncludes all patients with lower limb desaturation at rest (Eisenmenger physiology) or on exercise.
cCareful individual decision in expert centres is required.

©ESC
2020 ESC Guidelines for the management of adult congenital heart disease (ACHD)
www.escardio.org/guidelines (European Heart Journal 2020 - doi/10.1093/eurheartj/ehaa554)
 EISENMENGER’S SYNDROME
 Final common pathway for all significant LR shunting in which
unrestricted pulmonary blood flow leads to pulmonary vaso-
occlusive disease (PVOD); RL shunting/cyanosis develops
 Generally need Qp:Qs >2:1
PULMONARY HYPERTENSION AND EISENMENGER SYNDROME

 Cyanosis and clubbing

 Loud S2 (P2) on exam
 ECG: RVH
 CXR :
 PA enlargement
 Decreased pulmonary blood flow
 Normal heart size
 EISENMENGER COMPLICATIONS

 Coagulopathy/platelet consumption
 Polycythemia
 Brain abscesses
 Cerebral micro emboli
 Airway hemorrhage
 especially moving from lowerhigher altitudes (air travel, mountains)
 EISENMENGER: TREATMENT

 Polycythemia  phlebotomy
 Careful if microcytosis, strongest predictor of cerebrovascular events
 RULE OUT CORRECTABLE DISEASE
 Once diagnosis established, avoid aggressive testing as many patients die
during cardiovascular procedures
 Diuretics prn, oxygen
 Definitive: Heart Lung transplant
 Prostacyclin therapy may delay, expensive
 OBSTRUCTIONS

Coarctation of Aorta
Aortic stenosis and atresia
Pulmonary stenosis and atresia
 COARCTATION OF AORTA
 Narrowing in proximal descending aorta
 May be long/tubular but most commonly discrete ridge
 30 % of Turner syndrome patients have CoA
 50 – 85% of patients with CoA have bicuspid aortic
valve
 More common in males ( 2: 1)
 Natural hx: poor prognosis if unrepaired
 Aortic Aneurysm/dissection
 CHF
 Premature CADz
 COARCTATION OF THE AORTA

 All patients require lifelong follow-up

 Systemic hypertension common
 May occur with no residual coarctation
 May be due to re-coarctation
 Increased incidence of coronary heart disease, stroke, aneurysm
formation and associated Bi AV.
44
 COARCTATION OF AORTA: CLINICAL

 Most repaired, but adult presentation may be:

 HTN
 Murmur (continuous or systolic murmur heard in back or SEM/ejection click of
bicuspid AV)
 weak/delayed LE pulses
 Rib notching on CXR pathognomonic
RIB NOTCHING
COARCTATION REPAIR

• Surgical correction
1) Patch aortoplasty with removal of segment
and end to end anastomosis or subclavian flap repair
2) bypass tube grafting around segment

• Balloon angioplasty / stent placement

 COARCTATION: TREATMENT

 Despite surgery, patients still have significant morbidity/mortality with

average age 38
 Up to 70% of repaired patients still go on to develop HTN.
 Recurrence in 8-54% of repairs, can undergo repeat surgery or balloon
angioplasty
 Aortic Aneurysm/rupture may occur despite successful repair and
correction of HTN (freq around anastomosis site on patch repair – 30% in
one study)
 COARCTATION: FOLLOW-UP

 Every 1-2 years

 Document arm/leg BP
 Screen/treat CAD risk factors
 HTN: rest, provoked by exercise or seen on ambulatory monitoring
 ECHO/Doppler to evaluate recurrency
 MRI for aneurysm
 aRight arm ambulatory blood pressure should be considered for diagnosis.
bInvasively confirmed measurement
cRelative to the aortic diameter at the diaphragm .

©ESC
2020 ESC Guidelines for the management of adult congenital heart disease (ACHD)
www.escardio.org/guidelines (European Heart Journal 2020 - doi/10.1093/eurheartj/ehaa554)
 RIGHT TO LEFT SHUNTS (CYANOTIC CHD)

 Tetrology of Fallot (TOF)

 Transposition of great arteries
 Persistent truncus arteriosus
 Tricuspid atresia and stenosis
Cyanosis in early postnatal life
 TETRALOGY OF FALLOT (TOF)
 Combination of shunts with obstruction
with functional shunting of blood
 Most common cyanotic heart disease
 4 features
 VSD
 Overriding Aorta
 Pulmonic Stenosis
 RVH
 Variability correlates with degree of RVOT
obstruction and size/anatomy of PA
 TETRALOGY OF FALLOT

 2 types : Cyanotic and Acyanotic (pink tetralogy)

 Cyanotic: - Pulm stenosis is greater →↑ resistance to flow of blood in RV
→ it flows to LV→ Cyanosis - Effects: - pressure hypertrophy of RA and
RV - small tricuspid valve - small lt atrium & ventricle - enlarged aortic
orifice
 Acyanotic tetrology: - VSD larger, pulmonary stenosis mild: L → R
shunt, behaves like isolated VSD
Boot shaped heart
 TETRALOGY: SURGICAL TREATMENT
 Systemic – Pulmonary Shunt
 Blalock-Taussig-Thomas Shunt- Left Subclavian to Pulmonary
Artery
 Waterston –Ascending aorta to Right PA
 Potts-Descending Aorta to Left PA
 Complete Repair
 takedown of prior shunt
 patch VSD
 resection of subpulmonic obstruction
 transannular patch around pulm valve annulus (usually leads to
severe pulmonary regurgitation)
 TETRALOGY: TREATMENT/COMPLICATIONS
 Systemic-Pulm shunt
 leads to high flow through PA, elevated PVR and branch PA
distortion
 survival after repair worse in pt with prior Waterston or
Potts shunt (?higher flow); some pt with Blalock-Taussig
shunts may survive unrepaired into adulthood
 these pt should be evaluated for pulm artery stenosis and
Pulm HTN
TETRALOGY: RISK/FOLLOW-UP
 SCD ↑ 25-100 fold
 risk can occur 2 decades after correction
 related to QRS duration> 180msec
 ? Due to pulm insuff/RV conduction defect
 atrial arrhythmias also common
 Hemodynamic effects of pulm. Insuff. (PI)
 Chronic RV volume overload, RV dysfunction and exercise intolerance
 Pulmonic Valve Replacement can decrease QRS duration and stabilize RV
function; timing unclear but earlier better than later
 RV function: ECHO or MRI
 SEQUELAE AFTER SURGERY

Electrophysiologic
Conduction defects – CRBBB
Sinoatrial dysfunction – sick sinus
Tachyarrhythmias
Complete heart block
Ventricular ectopy
58
 Management of repaired tetralogy of Fallot: long-term
complications to address during follow-up

©ESC
Ao = aorta; LV = left ventricle;
RV = right ventricle; PA =
Pulmonary artery; TV =
tricuspid valve; RA = right
atrium; RV = right ventricular;
LA = left atrium; PA =
pulmonary artery; PS =
pulmonary stenosis; SCD =
sudden cardiac death; VSD =
ventricular septal defect.

2020 ESC Guidelines for the management of adult congenital heart disease (ACHD)
www.escardio.org/guidelines (European Heart Journal 2020 - doi/10.1093/eurheartj/ehaa554)
Thank you for your attention!!!