Congenital cardiopathies

Definition

Structural or functional anomaly present at birth even

if the diagnosis is made at a later stage.

Cardiovascular malformations are due to an alteration of

normal embryogenesis, when a structure’s
development is blocked at an earlier embryonic or
fetal stage.
 Contents
• Epidemiology

• Cardioembryogenesis

• Classification

• Main congenital cardiopathies of the adult

 Contents
• Epidemiology

• Cardioembryogenesis

• Classification

• Main congenital cardiopathies of the adult

 Epidemiology
Prevalence: 4-50 / 1000 new-born
(excluding aortic bicuspidy [10-20/1000 in the general population and MV
prolapse)

The prevalence is underestimated by excluding spontaneous abortions and

stillborns.

Hoffmann JI Am Heart J 2004; 476

Heart and Stroke Statistics-Update 2008
Daniels, CJ. Congenital Heart Disease. ACCSAP V
 Etiology
Alcohol – VSD
Cocaine
Lithium – tricuspid valve
OAC
Thalidomide
Environmental factors Rubella (ASD), toxoplasmosis
(teratogenous)
Carbamazepine, benzodiazepine
Low folate

Genetic factors 4-10% risk

Fetal echocardiography– 2nd trimester

 Contents
• Epidemiology

• Cardioembryogenesis

• Classification

• Main congenital cardiopathies of the adult

18d 21d

22d
 The primitive cardiac tube has five zones:

the arterial trunk

the bulbus cordis )

} some would call these two together
the ventricle ) the primitive ventricle, with inlet
and outlet portions

the atrium

and the sinus venosus

The arterial trunk will divide to separate the pulmonary and systemic supply.
The bulbus and the ventricle will differentiate into the right and left ventricles
 Cardiac tube formation
2 cardiogenic areas from the splanhnic mesoderm, ventrally
Atrial septum formation

1. Septum primum
2. Fenestrations
in the septum
primum

3. Septum secundum

4. Fosa ovalis and foramen

ovale persistence
Septation

Interatrial septum formation

Fetal circulation
Placenta – RA – LA – LV –
aorta - placenta

RA – RV – PA – arterial duct -
aorta

Lung – 7%
 Contents
• Epidemiology

• Cardioembryogenesis

• Classification

• Main congenital cardiopathies of the adult

 Sequential anatomical analysis

 Sequential analysis: the heart is formed by 3 anatomic and

functional segments  atria, ventricles and large arteries
 Sequential approach: CpC are the result of misalignment of
different segments

This is important pathophysiologically and hemodinamically

but also for the surgical approach
 Sequential anatomical analysis

Sequential anatomical analysis involves

 situs atriale definition

 Atrioventricular connection

 Ventriculo-arterial connection
 Atrioventricular connection

 CONCORDANT: RA RV si LA LV

 DISCORDANT: RA LV si LA RV

 Ventriculo-arterial connection

 CONCORDANT: RV PA si LV  Ao

 DISCORDANT: RV  Ao si LV  PA (TGA)
 Ventriculo-arterial connection

 Double exit: both large arteries are connected to one

ventricle
 Ventriculo-arterial connection

 Single exit:
• truncus arteriosus
• atresia polmonale
• atresia aortica
 Pathophysiological premises
Normal heart:

 Pulmonary and systemic circulation are a series

circuit
 Equal pulmonary and aortic outputs
 Qp/Qs = 1

 RV pressure= 1/4 - 1/5 of LV (due to vascular

resistance differences)

 Vascular resistance: it depends on the anatomo-

functional characteristics of arterioles.
Sommer RJ, Circulation 2008;117:1090
 Pathophysiological premises

Left- right SHUNT

A part of the blood flow from the LV is directed
into the RV

A percentage of oxigenated blood passes the

pulmonary circulation (wasted)

Pulmonary hyperflow (Qp/Qs > 1)

Sommer RJ, Circulation 2008;117:1090

 Pathophysiological premises
Right-left SHUNT
A part of the blood flow from the RV is directed
into the LV

A percentage of deoxigenated blood

contaminates de systemic circulation

Pulmonary hypoperfusion (Qp/Qs < 1)

Sommer RJ, Circulation 2008;117:1090

 Pathophysiological premises

 Pressure overload: ventricular overload due to

intraventricular pressure rise which is a
consequence of a functional or organic obstruction.

 Volume overload: ventricular overload due to an extra

volume of blood as a consequence of a shunt or a
regurgitation.

Sommer RJ, Circulation 2008;117:1090

 Contents
• Epidemiology

• Cardioembryogenesis

• Classification

• Main congenital cardiopathies of the adult

 Classification
Shunts - VSD
- ASD
- ADP
- DSAV
Noncyanotic Obstructive diseases
• Aortic stenosis
• Pulmonary stenosis
• Aortic coarctation

Low pulmonary vasc Fallot tetraloy

High pulmonary vasc
Cyanotic • Great vessel transposition
• Common arterial trunk
 Consequences of congenital
cardiopathies
• Heart failure
• Cyanosis (Low Hb > 3 mg/dl)
right-left shunf (Eisenmenger)
> on exertion
• Polycythemia (thrombotic risk)
• Cerebral paradoxical embolism
• Endocarditis (not in ADS)
• Hypoxic spell (squating)
 Atrial septal defect

In theQUADRO
isolated FISIOPATOLOGICO
form there is left to right
shunt; the size of the shunt depends on the
size of the septal defect.
Consequence: right cavities volume overload
with PA and right cavities dilation. The effect
on the pulmonary arterioles is relatively late
(pulmonary vasculopathy, which is rarely
irreversible/severe)

• Associated lesions can reverse the shunt (PS,

T4F , AP+DIV , APSI , AT ) or make it
bidirectional.
 Types
• Ostium secundum
• Ostium primum (±
MV, VSD)
• Venous sinus (±
aberrant pulmonary
veins)

Incidence = 8%, 2X more frequent in women

P atent foramen ovale = 25%

 Clinical presentation
• Asymptomatic
• Atrial fibrillation
• Eisenmenger syndrome - 6%
 Clinical presentation
• Dispnea, respiratory infections
• RV impulse ↑
• Fixed splitting of the 2nd heart sound,
pulmonary systolic murmur, TR
• Ecg – incomplete RBBB
- QRS axis to the right la dreapta (OP to
the left)
• Rx - cardiomegaly (RA< RV)
- increased pulmonary vasc
- proeminent pulmonary artery
• Echo – septal defect, the shunt, output ratio
• Catheterization - SO2 ↑ in RA
ASD
Echo ASD ostium secundum
 Treatment

• Surgical repair - age > 5 years; DP/DS >

1.5
• Catheterization – occlusive device (double
umbrella)
• NO need for endocarditis prophylaxis
Device for ASD
 FOLLOW UP ASD

• Life expectancy is normal in those operated in the preschool period

or before 20-40 years old and with a lower than 40 mmHg
pulmonary artery pressure.

• Reduced survival in 50% of those with a PAP > 40mmHg or with a

persistent abnormal PAP after intervention

• Life expectancy is better for those with a late intervention than

no intervention at all

• After surgery the heart tends to reduce its size but it rarely
becomes normal.

• For those who were corrected at an adult age, the RV remains

enlarged with a moderate functional limitation.
 Atrioventricular septal defect
= atrioventricular canal
= ASD OP type + VSD + common AV valve
VSD
VSD: Classification

• Perimembranous VSD (80%), most frequent

isolated defect

• M uscular VSD (5-20%): schweitzer shaped

septum

• AV canal VSD (inlet) (5-8%): overriding TV

• Infundibular VSD (outlet) (5-7%): double

connection or subpulmonary (Ao prolapse,
aortic regurgitation)
VSD types
 PERIMEMBRANOUS VSD

AD AP AO

• Located at the membranous septum

• Most frequent isolated defect
• Variable size

AS VD VS
 MUSCULAR VSD

AD AP AO

• Located at the anterior or posterior muscular

septum, its edges are all muscular tissue
• Frequently - schweitzer shaped septum –
multiple defects.
• These have a tendency for spontaneous
closing.

AS VD VS
 AV canal VSD (inlet)

AD AP AO

• Located posteriorly in the

ventricular region of the septum, at
the level of the AV valves.
• Frequently associated with mitral
valve leaflet cleft.

AS VD VS
 INFUNDIBULAR VSD
AD AP AO

• Located in the infundibular

septum.
• Frequently associated with aortic
valve prolapse, aortic
regurgitation and dilation of
Valsalva sinuses.

AS VD VS
 Interventricular septal defects
Pathopsysiology

Characterized by:
• Left-right shunting at the level of the VSD
• High pulmonary flow with PA dilation
• Pulmonary HTN
•

The importance of hemodynamic effects depends on:

• The size of the defect
• Arteriolar pulmonary resistance
• RVOT obstruction
 Clinical forms
1.Mild = Roger diseasse(asymptomatic, left
parasternal holosystolic murmur)

2. Severe (nonrestrictive) with normal

pulmonary resistance

3. Severe with high pulmonary resistance and

shunt reversal = Eisenmenger sd.
 Severe (nonrestrictive) VSD with
normal pulmonary resistance
• Dyspnea, respiratory infections, heart failure
• Hyperdynamic apical impulse, laterally displaced
• Systolic murmur + diastolic mitral murmur (high
flow)
• Ecg – LVH
• Rx – cardiomegaly (LV), ↑pulm. vascularization
• Echo – the defect, left-right shunting
• Catheterization – ↑RV O2 sat, normal pulmonary
resistance, < 7 Wood units.
 Severe VSD with high pulmonary resistance
and shunt reversal = Eisenmenger sd.
• Pulmonary vascular disease (media
hypertrophy, obliteration)
• Cyanosis, polycythemia, hippocratic nails
• ↑ a wave (jugular pulse, 4th heart sound
• RV parasternal impulse
• ↑2nd heart sound (pulm), pulmonary and
tricuspid regurgitation
• Ecg – RVH + LVH
• Echo – shunt reversal (right→ left)
• Rx –↑pulmonary arteries, ↓peripheral
vascularization
• Catheterization – fixed pulmonary resistance>
7 Wood units.
VSD
 VSD

• COLOR DOPPLER ECHOCARDIOGRAPHY - Diagnosis

- location
- sized
- interventricular pressure gradient
- PA pressure measurement in the absence of RVOT obstruction
• CARDIAC CATHETERIZATION
- Qp/Qs measurement, pulmonary resistance measurement,
VSD size
- diagnosis of accessory small ventricular defects
- needed when high pulmonary resistance is suspected
 Treatment
• Endocarditis prophylaxis
• Palliative medical treatment
• If pulmonary output/ systemic output <
1.5 – follow-up; if > 1.5 – intervention

Surgery – patch
Cath – occlusive device
DSV
 VSD FOLLOW-UP
Hemodynamic sequelae:
• Residual shunt ~ 5 % of cases, significant in < 2%
• Pulmonary HTN persistence
• Aortic regurgitation (aortic prolapse) - 4-6 % of cases
• LV or RV dysfunction especially common in pts who underwent left or
right ventriculotomy or in those with large patches that reduce septal
kinetics.

Arrhythmic sequelae
• Supraventricular extrasystole - 10 % of those who underwent surgery;
3 % SVTs.
• Ventricular arrhythmias, related to patches/ventriculotomy, 12 %
• Post surgical atrioventricular block: rare
Ductus arteriosus persistence
 Hemodynamics
• Aorta- PA shunt is variable with
- size of defect
- Ao-PA pressure gradient

• The consequence is pulmonary circulation

volume overload, but also of the left atrium and
ventricle.
• Ao – PA – PV – LA – LV – Ao (overload of
pulmonary circulation, rise of flux towards the
left cavities, which then become dilated)
 Clinical presentation

• Asymptomatic
• Heart failure
• Eisenmenger syndrome – lower
extremities cyanosis.
 Clinical presentation and work-up

• Wide, jumpy pulse, low diastolic BP (similar tu AoR)

• ↑LV apical impulse
• Continous systolic and diastolic murmur, diastolic
mitral murmur
• Single 2nd heart sound/ paradoxically splitted
• Ecg – LVH
• Rx – cardiomegaly (LA, LV)
- rich pulmonary vascularization
- ↑PA and Ao
Cath - SO2 ↑ in PA
Echo – retrograde flow in PA.
 Treatment
• IndomethacinI V
(preterm babies)
• Surgery – ligation
• Catheterization -
device

The intervention is 100% recommended

(0% mortality, high endarteritis risk)
 Aortic coarctation

Located at the aortic arch, at the level of the arterial duct, like a ring of
ductal tissue.

In its natural tendency to close it can progress to left subclavian obstruction

in the adult life.
 Aortic coarctation

Hemodynamics
Upper extremities HTN → LVH
Lower extremity hypotension → absent
femoral pulse

Associated with: aortic bicuspid valve,

cerebral aneurysms.
 Clinical presentation and work-up
• Proximal HTN, strokes
• Diminished pulses at the lower extremities, collaterals
• ↑apical impulse
• left posterior 4th IC space systolic murmur
• Ecg – LVH
• Rx – 3 sign (dilation of left subclavian artery, lower
edge rib erosion)
• Echo – pressure gradident in the aorta before and
after coarctation
 Treatment
• Prostaglandin E1in new borns
• Surgical
• Ballon angioplasty (cath)
 Fallot’s tetralogy
1. VSD
2. Aorta overriding the IVS
3. Pulmonary stenosis
4. RVH

The morphogenetic anomaly: abnormal

anterosuperior deviation of the
infundibular septum
 Hemodynamics

RV pressure > LV pressure

Right – left shunt, dependant on the

difference between the systemic and
pulmonary vascular resistance.

Incidence = 7%
Hypoxic spell
 Clinical presentation and work up

• Dyspnea (improved by squatting)

• Cyanosis, polycythemia, hippocratic nails
• Moderately accentuated RV impulse
• Pulmonary systolic murmur, single 2nd heart
sound
• Ecg – RVH
• Rx – Cœur en sabot; PA is↓, pulmonary
vascularization is ↓
• Cath – pRV= pLV; aortic low SO2
• Echo – VSD, overriding Ao, RV gradient
(infundibular)
Fallot’s tetralogy
Echo Fallot
 Treatment
• Hypoxic spell: oxygen, morphine, beta
blocker
• Endocarditis prophilaxis
• High intensity effort is prohibited
• Surgical – definitive repair.
 Pulmonary stenosis

Incidence = 9%

Hemodynamics:
RV pressure is ↑ → RVH, RAH
Poststenotic PA dilation
Low cardiac output↓
 Aortic stenosis
Incidence = 3%

Subvalvular (diaphragm or fibromuscular)

Valvular (± bicuspid valve)
Supravalvular (mental retardation)