CARDIO-RESPIRATORY

CONDITIONS

By
DR PRISCUS MUSHI
 Definition:

• Structural malformations of the heart

+/- big vessels (Aorta & Pulmonary
artery)
• Present at birth.
• Most common and important form of
heart disease in early years of life.
 Prevalence:

• 1% of all live births (Incidence is higher

in premature babies)
• 10% of still births.
 Risk factors
Genetic factors
Environmental factors:
 Maternal infections (ToRCHeS) during
6- 8 i.u.w
 Cytotoxic drugs - thyridomide,
antimetabolite.
 Alcohol intake by mother
Chromosomal aberration
 Patau’s syndrome (trisomy 13) Tend to die
earlier
 Edward’s syndrome (trisomy 18)
 Down’s syndrome (trisomy 21) – a/w atrial
ventricular canal
 Turner’s syndrome (45, X0) – a/w
Coarctation of aorta.
Radiations
Idiopathic

• INFORMATION BOX ToRCHeS:

Toxoplasmosis, Rubella,
Cytomegalovirus, Herpes simplex,
Syphilis
 Classification
Old Classification – Based on
Presence/Absence of Cyanosis:
 Acyanotic CHD.
 Cyanotic CHD.
 NOTE:Even long standing Acyanotic
CHD will end up being Cyanotic
Recent classification – Based on blood
shunting (abnormal communication
between the chambers/ vessels):**
 Left to right shunt
 Right to left shunt
 Obstructive ventricular outflow
 ACYNOTIC CHD

Left to right shunt

• 1. Atrial septa defect (ASD)
• 2. Ventricular septa defect (VSD)
• 3. Persistent ductus arteriosus (PDA)
Outflow obstruction
• 1. Pulmonary stenosis
• 2. Aortic stenosis
• 3. Coarctation of aorta
 CYNOTIC CHD

1. Tertalogy of fallot
 Pulmonary stenosis
 VSD
 Overriding of aorta
 Right ventricular hypertrophy
2. Transposition of great vessels
3. Artrioventricular septal defect
4. Total anomalies pulmonary venous
drainage
5. Tricuspid atresia
6. Pulmonary atresia
 Embryology of the Heart –
Revision
• Begins at 5 i.u.w
• Starts as a tube then it is divided into
chambers
• First the Endocardial cushion divides it
into Upper atrium and lower ventricles.
 The intra-atria septum
 A 2 layered Septum primum grows from the
Endocardial cushion then separate the atria.
 Foramen secundum opens up along the Septum
primum to allow blood flow from the ….
 Another septum, Septum secundum develops and
a Foramen ovale opens up along this septum.
• The intra-ventricular septum, has two parts:
•  Muscular
•  Membranous
• NOTE:separate the Ventricles into Lt & Rt
 I. ACYNOTIC CHD – LEFT
TO RIGHT SHUNT
 Can either be the defect of:
1. Intra-ventricular septum – VSD
 VSD Infundibulum (~5%)
o Defect beneath the Pulmonary artery
 VSD Membranous (~90%)
o Defect along the membranous septum
 VSD Muscular (~5%)
o Defect along the muscular septum
o Swiss cheese VSD = Multiple holes
2. Intra-atrial septum – ASD
 ASD Primum (~5%)
o Primum septum failed to reach the endocardial cushion
o Defect at the bottom
o +/- Valvular defect
 ASD Secundum (~90%)
o At the middle of the septum
o Foramen between the
 Sinus Venosus (~5%)
o Septum failed to join the SVC membrane
o Defect at the top

3. Patent Ductus Arteriosus (PDA)

 Clinical features – Sequel:
1. Small VSD – asymptomatic & heal on their own
2. Pansystolic murmur
• Harsh, Lower left sternal border
3. RV hypertrophy
• Volume & Pressure overload
4. Vasoconsctriction – immediate hypertrophy of
media + proliferation & fibrosis of intima
• To prevent pulmonary edema
5. Reverse shunt – Eisenmenger’s Syndrome
• Pulmonary pressure far exceeds
systemic pressure due to immediate
vasoconstriction and consequent
hypertrophy & irreversible proliferation
of the intima of pulmonary vasculature
with subsequent cor pulmonale.
 Patent Ductus Arteriosus
• PDA – Persistence of the normal fetal
vessel that joins the PA to the Aorta.
• Normally closes in the 1st wk of life.
• Accounts for 10% of all CHD, seen in 10%
of other congenital hrt lesions and can often
play a critical role in some lesions.
• Female : Male ratio of 2:1
• Often associated w/ coarctation & VSD.
• Question:
What TORCH infection is PDA associated
with?

• Answer:
Rubella
 Hemodynamics
• As a result of higher aortic pressure, blood shunts
L to R through the ductus from Aorta to PA.

• Extent of the shunt depends on size of the ductus

& PVR:SVR.

• Small PDA, pressures in PA, RV, RA are normal.

 Hemodynamics
• Large PDA, PA pressures are equal to
systemic pressures. In extreme cases 70%
of CO is shunted through the ductus to
pulmonary circulation.

• Leads to increased pulmonary vascular

disease.
 Clinical Signs & Symptoms
• Small PDA’s are usually asymptomatic
• Large PDA’s can result in symptoms of CHF,
growth restriction, FTT.
• Bounding arterial pulses
• Widened pulse pressure
• Enlarged heart, prominent apical impulse
• Classic continuous machinary systolic murmur
• Mid-diastolic murmur at the apex
 Treatment
• Indomethacin, inhibitor of prostaglandin
synthesis can be used in premature infants.
• PDA requires surgical or catheter closure.
• Closure is required treatment heart failure & to
prevent pulmonary vascular disease.
• Usually done by ligation & division or intra
vascular coil.
• Mortality is < 1%
 II. CYNOTIC CHD- RIGHT
TO LEFT SHUNTS
Cyanosis:
• Bluish discoloration of the skin & mucus
membranes when >5g of Hb are in
reduced form.
• It happens when blood bypasses the lungs
• Become clinically apparent when the
patient is not anemic. WHY?
 The most common
malformations (in order of
appearance):
• 1. Tetralogy of Fallot
•  Cardiac anomaly with 4 related defects that
occur together. At birth 3 features are present
and the 4th develops later:
• * Pulmonary stenosis
• * VSD
• * Overriding of aorta
• * RV hypertrophy
 Pathophysiology:

* During embryological development,

Trancus arteriosus is divided into fairly two
equal parts by Spiral septum (which later
fuses with Ventricular septum) to form the
Aorta and Pulmonary artery.
* Unequal division of the trancus arteriosus
Pulmonary stenosis
* When the ventricular & spiral septae fail to
fuse  VSD & Overriding of the aorta
* Persistence of the condition RV
hypertrophy due to high resistance offered
by a stenosed Pulmonary trunk
• In classical patients:
* RV contracts, there is Lung bypass and
systemic circulation receives blood with
75% O2 saturation thus cyanosis.
* Cyanosis starts 2nd – 3rd week of life
depending on the amount of pulmonary
resistance. WHY LATE
PRESENTATION?
~Concurrent PDA
~Presence of fetal Hb: High O2 affinity
~Child less active: Low O2 consumption
* Cyanotic/Tetralogy spells – transient attacks
with worsening of cyanosis due to vasospasm
of pulmonary vessels
* Finger clubbing – formation of connective
tissue under the nail bed
* Erythrocytosis – Endothelial cells of
Peritubular capillaries (O2 sensors) detects
renal hypoxia Erythropoietin hormone
* Squatting – if the child is older enough to
walk will usually squat because this
obstructs femoral arteries and  LV
pressure thus forcing the blood thru a
stenosed Pulmonary artery to  O2
saturation.
* On strenuous exercise, cyanosis worsens
(Anoxic spells) – arteriolar dilation in the
muscles, decreased LV pressure & more
lung bypass
* Failure to thrive
 Examination

1. Chest size & shape

•  On alpation there is precodium active eg
VSD,
•  Pulse rate there is radio femoral delay in
coarctation of aorta,
2. Auscultation
•  Ejection systolic murmurs – ASD and
pulmonary stenosis and coarctation of aorta
•  Soft pancystolic murmur or no murmur –
VSD
•  Continuous murmur – PDA
3. Heart sound
•  Loud pulmonary 2 heart sound – VSD
•  Only single heart sound – pulmonary
atresia
•  Wide split S2 – ASD
4. Hepatomegaly in VSD
 Investigation
1. Chest x-ray
•  Heart size: cardiomegaly e.g. VSD, ASD
•  Heart shape:
* boot shape – tetralogy of Fallot,
* egg appearance – total anomalies pulmonary
venous drainage.
* Figure of eight – transposition of great vessels
 Pulmonary vasculature:
• * oligemic lung field – right to left shunt
• * plethoric – left to right shunt,
 Increased pulmonary vascular marking –
VSD, Transposition of great vessels
2. ECG
 LVH – Aortic stenosis and coarctation of
aorta
 RVH – tetralogy of Fallot
 Right axial deviation – Tetralogy of Fallot
3. 2D echocardiography
•  Structural defects
4. Cardiac catheterization.
•  For patient undergoing surgery
 Treatment
1. No treatment for asymptomatic small
VSD.
2. Moderate to severe defects
•  Corrective surgery
•  Palliative surgery
•  Balloon dilatation in aortic and
pulmonary stenosis
3. Medical Mx
•  Endomethacin – PDA closure. R/O any
other malformations e.g. Transposition of
great vessels as PDA closure may lead to
death (if co-occur with cyanotic heart
disease)
 Prophylaxis antibiotics should be given
before any procedure since they are prone to
endocarditis.
INFORMATION BOX: MX OF CYANOTIC/TET SPELLS
Patient position: Knee-chest/Squatting
O2 therapy
Morphine: Decrease respiratory drive
ß blockers (Propanalol)
Vasopressors (Epi/Norepi) : Increase systemic BP
 Obstructive Heart Lesions
• Pulmonary Stenosis

• Aortic Stenosis

• Coarctation of the Aorta

 Pulmonary Stenosis
• Pulmonary Stenosis is obstruction in the region of either
the pulmonary valve or the subpulmonary ventricular
outflow tract.

• Accounts for 7-10% of all CHD.

• Most cases are isolated lesions

• Maybe biscuspid or fusion of 2 or more leaflets.

• Can present w/or w/o an intact ventricular septum.

 Pulmonary Stenosis
• Question:
What syndrome is PS associated with?

• Answer:
Noonan’s Syndrome, secondary to valve
dysplasia.
 Pulmonary Stenosis
Hemodynamics
• RV pressure hypertrophy  RV failure.
• RV pressures maybe > systemic pressure.
• Post-stenotic dilation of main PA.
• W/intact septum & severe stenosis  R-L
shunt through PFO  cyanosis.
• Cyanosis is indicative of Critical PS.
 Pulmonary Stenosis
Clinical Signs & Symptoms
• Depends on the severity of obstruction.
• Asymptomatic w/ mild PS < 30mmHg.
• Mod-severe: 30-60mmHg, > 60mmHg
• Prominent jugular a-wave, RV lift
• Split 2nd hrt sound w/ a delay
• Ejection click, followed by systolic murmur.
• Heart failure & cyanosis seen in severe cases.
 Pulmonary Stenosis
Treatment
• Mild PS no intervention required, close follow-up.

• Mod-severe – require relieve of stenosis.

• Balloon valvuloplasty, treatment of choice.

• Surgical valvotomy is also a consideration.

 Aortic Stenosis
• Aortic Stenosis is an obstruction to the outflow
from the left ventricle at or near the aortic valve that
causes a systolic pressure gradient of more than
10mmHg. Accounts for 7% of CHD.
• 3 Types
• Valvular – Most common.
• Subvalvular(subaortic) – involves the left outflow
tract.
• Supravalvular – involves the ascending aorta is the
least common.
 Aortic Stenosis
• Question:
Which syndrome is supravalvular stenosis
found in?

• Answer:
Williams Syndrome
 Aortic Stenosis
Hemodynamics
• Pressure hypertrophy of the LV and LA
with obstruction to flow from the LV.
• Mild AS 0-25mmHG
• Moderate AS 25-50mmHg
• Severe AS 50-75mmHg
• Critical AS > 75mmHg
 Aortic Stenosis
Clinical Signs & Symptoms
• Mild AS may present with exercise intolerance,
easy fatigabiltity, but usually asymptomatic.

• Moderate AS – Chest pain, dypsnea on exertion,

dizziness & syncope.

• Severe AS – Weak pulses, left sided heart failure,

Sudden Death.
 Aortic Stenosis
Clinical Signs & Symptoms
• LV thrust at the Apex.

• Systolic thrill @ rt base/suprasternal notch.

• Ejection click, III-IV/VI systolic murmur @

RSB/LSB w/ radiation to the carotids.
 Aortic Stenosis
Treatment
• Because surgery does not offer a cure it is reserved
for patients with symptoms and a resting gradient of
60-80mmHg.

• For subaortic stenosis it is reserved for gradients of

40-50mmHg because of it’s rapidly progressive
nature.

• Balloon valvuloplasty is the standard of treatment.

 Aortic Stenosis
Treatment
• Aortic insufficiency & re-stenosis is likely after
surgery and may require valve replacement.

• Activity should not be restricted in Mild AS.

• Mod-severe AS, no competitive sports.

 Coarctation of the Aorta
• Coarctation- is narrowing of the aorta at varying
points anywhere from the transverse arch to the
iliac bifurcation.

• 98% of coarctations are juxtaductal

• Male: Female ratio 3:1.

• Accounts for 7 % of all CHD.

 Coarctation of the Aorta
• Question:
What other heart anomaly is coarctation
associated with?

• Answer:
Bicuspid aortic valve, seen in > 70% of
cases.
 Coarctation of the Aorta
• Question:
What genetic syndrome is coarctation seen
in?

• Answer:
Turner’s Syndrome
 Coarctation of the Aorta
Hemodynamics
• Obstruction of left ventricular outflow 
pressure hypertrophy of the LV.
 Coarctation of the Aorta
Clinical Signs & Symptoms
• Classic signs of coarctation are diminution or absence of
femoral pulses.

• Higher BP in the upper extremities as compared to the

lower extremities.

• 90% have systolic hypertension of the upper extremities.

• Pulse discrepancy between rt & lt arms.

 Coarctation of the Aorta
Clinical Signs & Symptoms
• With severe coarc. LE hypoperfusion, acidosis, HF
and shock.

• Differential cyanosis if ductus is still open

• II/VI systolic ejection murmur @ LSB.

• Cardiomegaly, rib notching on X-ray.

Coarctation of the Aorta
 Coarctation of the Aorta
Treatment
• With severe coarctation maintaining the ductus with
prostaglandin E is essential.

• Surgical intervention, to prevent LV dysfunction.

• Angioplasty is used by some centers.

• Re-coarctation can occur, balloon angioplasty is the

procedure of choice.
 Questions
Examination of a 3-hr old infant reveals
dysmorphic features and cyanosis. Both the
occiput and facial profile are flat, and the
fontanelle is abnormally enlarged. The space
between the great and second toe is wide, and
there is a palmar crease extending across the
left palm. Room air oximetry reveals a saturation
70%.
 Questions
Of the following, the MOST likely lesion to
be found on echocardiography would be
A. Atrioventricular septal defect
B. Coarctation of the aorta
C. Hypoplastic left heart
D. Total anomalous pulmonary venous return
E. Truncus arteriosus
 Questions
After a few days of poor feeding and
tachypnea, a 3 week old presents with
hypotension, poor central and peripheral
pulses, and severe metabolic acidosis. A
gallop is audible, and the heart appears
enlarged on chest radiography. Hepatomegaly
is marked.
 Questions
Of the following, the BEST intervention to
produce a sustained improvement is
A. 100% Oxygen administration
B. Dopamine infusion
C. Gamma globulin infusion
D. Phenylephrine infusion
E. Prostaglandin E infusion
 Questions
A term infant is born with a large ventricular septal
defect. At what age is the infant most likely to first
demonstrate clinical findings of CHF
A. 2 days
B. 2 weeks
C. 2 months
D. 6 months
E. 12 months