Heart disease

1. The
Heart
Lecture IV
Congenital Heart disease

2. Incidence:
 occur in about 8 per 1000 live births
 the most common types of congenital malformations
 the most common cause of heart disease in children
Cause:
 Idiopathic(90% of cases)
 Genetic factors(e.g., trisomies 13, 15, 18, and 21 and
Turner syndrome)
 Environmental factors (e.g., congenital rubella infection
)
Congenital Heart disease

3. Malformation CHD (%)
Ventricular septal defect 30.5
Patent ductus arteriosus 9.7
Pulmonary stenosis 6.9
Tetralogy of Fallot 5.8
Aortic stenosis 6.1
Coarctation of the aorta 6.8
Atrial septal defect 9.8
Transposition of the great arteries 4.2
Truncus arteriosus 2.2
Tricuspid atresia 1.3
All others 16.5
Congenital Heart Disease

4.  Subdivided into three major groups:
1. Malformations causing a left-to-right shunt
2. Malformations causing a right-to-left shunt
(cyanotic congenital heart diseases)
3. Malformations causing obstruction
Congenital Heart disease (CHD)

5. CHD: Left-to-right shunts
1. VSD
2. ASD
3. PDA (close with indomethacin)
 Frequency: VSD > ASD > PDA
Eisenmenger’s syndrome:
 Uncorrected VSD, ASD, or PDA leads to progressive
pulmonary hypertension.
 As pulmonary resistance ↑, the shunt reverses from L → R
to R → L, which causes late cyanosis “blue kids”

6. Atrial Septal Defect (ASD)
1. Ostium secundum: (75%)
• arises if the septum secundum does not enlarge enough
to cover the ostium secundum
• defect in the foramen ovale
1. Ostium primum: (15%)
• arises if the septum primum and the endocardial
cushions fail to fuse.
• associated with defects in mitral and tricuspid valves
• seen in the low atrial septum
2. Sinus venosus: (10%)
• etiology is unclear
• occurs in the upper part of the atrial septum

8. ASD: Clinical features
 the most common abnormalities first diagnosed in adults
 Ostium secundum are well tolerated if the defects < 1 cm
 With time the pulmonary vascular resistance increases
resulting in pulmonary hypertension, and reversal of the
shunt Eisenmenger’s syndrome
 Ostium primum defects are initially asymptomatic, but later
are more likely to be associated with CHF due to associated
mitral insufficiency

9.  On physical examination:
• Systolic ejection murmur in the pulmonary area
• S2 is widely and constantly split
 On CXR: the heart and main pulmonary artery are
enlarged, and pulmonary vasculature is increased
ASD:
Clinical features

10. Ventricular Septal Defects (VSD)
 The interventricular septum develops by fusion of the
muscular part growing upward from the apex of the heart
with a thinner membranous part that grows downward from
the endocardial cushions
 70% of VSD are located in the membranous septum
 Very small VSD close spontaneously in childhood
 Occur in isolation in 30% of cases, or in association with
other anomalies

11.  Small VSDs: may be asymptomatic
 Larger defects:
• cause a severe left-to-right shunt, complicated by
pulmonary hypertension and CHF
• reversal of the shunt & cyanosis, occurs earlier and
more frequently in patients with VSDs than with ASDs
• RV is hypertrophied, and often dilated
• The diameter of the pulmonary artery is increased
 Treatment: early surgical correction in larger lesions.
 Complication: infective endocarditis.
VSD: Clinical features

12.  Patients with Eisenmenger
syndrome presents with
shortness of breath, dyspnea on
exertion, chest pain, and cyanosis
 Holosystolic murmur of tricuspid
regurgitation
 CXR will show the presence of
cardiomegaly, pulmonary vascular
congestion
VSD: Clinical features

13. Patent Ductus Arteriosus (PDA)
 Connects pulmonary artery to the aorta distal to the origin of
the left subclavian artery to bypass the unoxygenated lungs
 After birth (1-2 days) the duct closes because of:
• Increased level of arterial oxygen
• Decreased pulmonary vascular resistance
• Decreasing levels of prostaglandin E2
 May occur in combination with other anomalies, mainly VSD
 Associated with congenital rubella infection

14. PDA: Clinical features
 small PDA causes no symptoms
 large PDA will cause CHF
 Reversal of shunting will cause
dyspnea on exertion, shortness of
breath, cyanosis, and CHF
 machinery murmur will be heard at
upper left sternal border
 Complication: infective endocarditis
 Treatment: Indomethacin by
decreasing the PGE2

15.  causes early cyanosis: “blue babies”
The 5 T’s:
1. Tetralogy of Fallot (most common cause)
2. Transposition of great vessels
3. Truncus arteriosus
4. Tricuspid atresia
5. Total anomalous pulmonary venous connection.
CHD: Right-to-left shunts

16. Tetralogy of Fallot
 Is the most common cause of cyanotic heart disease
 The four components are:
1. VSD
2. Dextraposed aortic root that overrides the VSD
3. RV outflow obstruction (Pulmonary stenosis)
4. RV hypertrophy
 Abnormal division of the truncus arteriosus into a
pulmonary trunk and aortic root has been suggested as
the cause of this malformation

17. Tetralogy of Fallot

18.  The heart is enlarged and boot shaped due to RV hypertrophy
 Proximal aorta is larger than normal
 RV wall is thick equal or more than LV wall
 Additional abnormalities may be present like ASD
Tetralogy of Fallot: Morphology

19. Tetralogy of Fallot: Clinical features
 Cyanosis at birth or soon afterwards because while the heart
grows with age the pulmonic orifice does not
 PDA permits survival if the pulmonary valve is completely
obstructed
 Systolic ejection murmur best heard in the left upper sternal
border due to RV outflow obstruction
 At increased risk for IE, systemic emboli, and brain abscesses
 Treatment: Surgical repair
Tet spells: cyanotic spells due to increased
pulmonary resistance. Fatigued children resort
to squatting to increase pulmonary flow

20. Truncus Arteriosus
In this defect, only one
artery originates from the
heart and forms both the
aorta and the pulmonary
artery. The truncus arises
above a VSD that is
associated with this defect.

21. Transposition of the Great Vessels
 The second leading cause of cyanotic CHD
 The aorta arises from RV, the PA arises from the LV
 In complete form, the pulmonary and systemic circulation
are completely separate. This is incompatible with life
 Those who survive must be having one of these: VSD,
ASD, PDA to allow oxygenated blood to reach the aorta
 Clinical manifestation:
• Cyanosis is present from birth
• Tachypnea, tachycardia
• Dyspnea, Cold skin
 Treatment: surgical

23. Congenital Obstructive Lesions
Coarctation of Aorta
 Abnormal narrowing of the aortic lumen
 In 50% of cases it occurs as a single anomaly
 The rest is associated with PDA, VSD, and ASD
 Coarctation is more in males
 associated with saccular aneurysms of CNS
 increased frequency in patients with Turner syndrome.
 Two major categories:
1. preductal
2. Postductal (the more common)

24. Pre-ductal

25. Preductal coarctation:
 characterized by narrowing of the aortic isthmus, the
segment of aorta that lies between the left subclavian artery
and the point of entry of the ductus arteriosus.
 The ductus arteriosus is patent and is the main source of
blood delivered to the distal aorta.
 Right cardiac chambers are often hypertrophic and dilated;
 the pulmonary trunk is also dilated
Coarctation of Aorta: MORPHOLOGY

26. Coarctation of Aorta: Clinical Features
 Preductal type: also called infantile coarctation
 Classic features include:
• congestive heart failure
• selective cyanosis of the lower extremities
• The femoral pulses are weak
 patients do not survive the neonatal period without surgical
correction.

27. Postductal coarctation:
 The aorta is constricted distal to the obliterated ductus
arteriosus (the ligamentum arteriosum).
 The ductus arteriosus is closed
 Proximal to the coarctation, the aortic arch and its branch
vessels are dilated and, in older patients, atherosclerotic.
 The left ventricle is hypertrophic.
 Collateral flow through intercostal, phrenic, & epigastric
arteries supplies most of the blood to the distal aorta, and
these collateral channels are almost always dilated.
Coarctation of Aorta: MORPHOLOGY

28. Coarctation of Aorta: Clinical Features
 Postductal type: present in older children and adults
 Classic features include:
• Cyanosis of lower extremities is not seen
• Hypertension of upper extremities is seen in most cases
due to decrease perfusion of kidneys, and activation of
renin-angiotensin system
• Low BP is in lower extremities
• Claudication is present

29. Notching of ribs due to presence of coarctation of aorta

30. Ebstein’s Anomaly
 Rare anomaly in which the leaflets of the tricuspid valve are
displaced into the RV cavity, and a portion of the RV is
incorporated into the right atrium
 Patent foramen ovale is present in 80% of patients
 The right atrium is massively dilated

31. Cardiac Tumors
 Secondary tumor: commonest
• Metastasis usually from lung &
breast carcinoma, melanoma,
lymphoma and leukemias.
• Involve the pericardium
• causing pericarditis and
hemorrhagic pericardial
effusions
Metastasis are seen on the
epicardial surface

32. Primary Tumors
 Rare
 Most common tumors in descending order:
• Myxoma
• Rhabdomyoma
• Papilloma
• Papillary elastofibroma
• Angiosarcoma
• rhabdomyosarcoma

33. Myxoma:
 Benign tumor
 Arise from left atrium near fossa
ovalis
 Obstruct the valves with resultant
syncopal episode or even death
 May fragment and cause emboli
 Treatment: surgical resection
 Morphology:
multinucleated stellate cells,
smooth muscle cells in a
mucopolysaccharide rich stroma

34.  Cardiac rhabdomyomas:
• the most common during infancy and childhood
• association with tuberous sclerosis
• May be solitary or multiple
 Lipomas:
• May occur anywhere in the heart
• Though morphologically benign, they may be implicated
in sudden cardiac death
Primary Tumors