CONGENITAL HD Overview RAGAB ABDELSALAM MD Prof of

CONGENITAL HD Overview RAGAB ABDELSALAM (MD) Prof. of Cardiology

Causes: Inheritance: multifactorial etiology has been assumed in which interaction between hereditary predisposition and environmental influences resultsin the defects.

. Maternal factors - Maternal diabetes - Maternal phenylketonuria - Maternal alcohol consumption and fetal alcohol syndrome - Genetic risk factors.

- A family history of a cardiac or noncardiac defect in either a parent or a preceding sibling is a major risk factor - Familial congenital heart defects are often concordant by phenotype and developmental mechanism

Genotype-phenotype correlation: - Careful family history of firstand second-degree relatives, including detailed analysis of pregnancy loss, racial origin, and consanguinity - A search for risk factors such as gestational diabetes mellitus

Classification of congenital heart diseases

Murmurless Congenital Heart Diseases a) Cyanotic diseases - Transposition of great arteries- Pulmonary atresia with intact septum - total anomalies of pulmonary venous drainage - Tricuspid atresia with or without pulmonary atresia

b) Acyanotic diseases - Core triatum - Severe coarctation oronary artery originating from pulmonary Artery. - Endocardial fibroelastosis

c) Others - Single ventricle without obstruction. - Hypoplastic left heart syndrome

* Duct dependent lesions - These are lesions presenting very early in life that are dependent on ductal patency for survival These lesions fall into two main categories

A) Cyanotic lesions in which pulmonary blood flow is almost or totally dependent on the duct -Severe tetrallogy of fallot • - Pulmonary atresia with intact septum -pulmonary atresia with VSD -Critical pulmonary stenosis

Acyanotic lesions B) - Aortic atresia. - Critical aortic stenosis - Iterrupted aortic arch - Severe pre-or juxtaductal - Coarctation

The radiographic classification of CHD relies on: 1. Clinical information (cyanosis) 2 - Plain film information (increased pulmonary vascularity, decreased pulmonary vascularity)

I ) Acyanotic CHD with increased pulmonary vascularity. Common denominator of these lesions is that there is a L-R shunt where pulmonary flow is greater than true aortic flow;

The shunt can be located in: 1 - Ventricular septal defect. 2 - Atrial septal defect. 3 - Patent ductus arteriosus

4 - Uncommon lesions: - Aorticopulmonary window. -Ruptured sinus of Valsalva aneurysm, coronary artery fistula 5 - Other - Endocardial cushion defect - PAPVC

II) Acyanotic CHD with normal pulmonary vascularity Normal pulmonary vascularity is associated with either outflow obstruction or valvular insufficiency:

A) Outflow obstruction: 1. - Coarctation of aorta 2. - Interruption of aortic arch 3. - Aortic stenosis 4. - Pulmonary stenosis / insufficiency B) Valvular insufficiency: 1. - Aortic insufficiency 2. - Pulmonary insufficiency

III) Cyanotic CHD with decreased pulmonary vascularity - Common denominator of these lesions is that there is a decreased pulmonary vascularity due to obstruction of pulmonary blood flow. - In addition, there is an intracardiac defect through which blood is shunted away from the lungs causing cyanosis.

* Types: Normal heart size - Tetralogy of Fallot - Fallot variants ( trilogy, pulmonary atresia / pseudotruncus I/II)

Increased heart size Ebstein's anomaly (largest heart in CHD) - Tricuspid atresia - ddx: 1 - Uhl's disease (RV myocardium absent with tricuspid atresia) 2 -Pulmonary stenosis with ASD

IV) Cyanotic CHD with increased pulmonary vascularity (admixture lesions) - - Common denominator of these lesions is that there is an "admixture" of systemic and pulmonary venous blood (bidirectional shunting.

- Clinical symtoms: CHF, cyanosis, recurrent pneumonia, growth retardation. - The admixture of venous blood may occur at the level of:

* Large veins: -Total anomalous pulmonary venous connection (ASD is also present) * Large arteries: - Truncus arteriosus

Atrium -Transposition of great arteries (VSD is also present). Ventricle - Single ventricle - DORV (types I, II = Taussig. Bing.

TETRALOGY VARIANTS 1 - Pink tetralogy : 1/3 have mild pulmonary valvular obstruction with large VSD, allowing sufficient pulmonary flow. - Pulmonary atresia and VSD = pseudotruncus, extreme end of the spectrum. - Infundibular hypertrophy in VSD (3%) -

2 - Pentalogy of Fallot: Tetralogy + ASD 3 - Trilogy of Fallot: PA stenosis + RV hypertrophy+ Patent foramen ovale , or (ASD)

TRANSPOSITION OF GREAT ARTERIES (TGA) Types: Complete transposition of great arteries (D-TGA) AORTA ORIGINATES FROM RV - PA originates from LV - Normal position of atria and ventricles

Corrected transposition of great arteries (L-TGA): - Transposition of great arteries - Inversion of ventricles - The relative position of aorta and pulmonary artery can be derived from the diagram on the right

D-TGA (COMPLETE TRANSPOSITION): Two independent circulations exist: • Blood returning from body RV blood delivered to body (aberrant aorta) • Blood returning from lung LV blood delivered to lung (via ASD, etc).

This circulatory pattern is incompatible with life unless there associated anomalies that permit mixing of the two circulations, e. g. , through ASD, VSD, or PDA. • Hemodynamics: depends on the level of admixture and R->L shunting. • RA and RV enlarged.

GENERAL: Situs stuff: - Abdominal situs refers to position of liver and stomach: a) Abdominal situs solitus: liver on right, stomach on left (normal( b (Abdominal situs inversus: liver on left, stomach on right

c) Thoracic situs refers to position of the tracheobronchial tree:

Thoracic situs solitus (normal) 1 - Left main bronchus longer than right main bronchus 2 - Left main bronchus inferior to left PA 3 - Right main bronchus superior to right PA

Dxtrocardia

Type I ( situs inversus totalis) with 1 - Mirror-like malposition of the heart 2 - Mirror-like malposition of other viscera. 3 - Kartegner suyndrome: Situs inversus , sinusitis & bronciectasis

Type II: ( Isolated dextrocardia) 1 - Mirror-like cardiac malposition. 1 - Normal position of other viscera. 3 - serious cardiac anomalies.

Type III ( Dextroversion with): 1 - Heart is merely displaced to right. 2 - RV remains to right & LV remains to left. 3 - Serious cardiac anomalies.

Type IV (Dextroposition) : Aquired dextrocardia: The heart is displaced by external factors: Pulmonary , pleural or diaphragmatic

Congenital dextrocardia 1 - No apparent cause Acquired dextrocardia 1 - Apparent cause ( pushing or pulling) the heart 2 - Trachea is central 2 - Trachea is displaced to the right 3 - Apex is localized (LV) 3 - Diffuse ( as it is formed by RV) 4 - Situs inversus may be presnt 4 - Absent 5 - Associated congenital anomalies 5 - Absent

The three common cynotic Heart Diseases 1) Falot tetralogy 2) fallot Trilogy. 3) Eisenmenger”s syndrome

Fallot Eisenme Tetralogy Triology nger”s Cyanosis (Onset) Cyanotic spells Usually since Late ( First on birth excersion Present Absent Squatting Present Absent Cyanosis & clubbing Neck veins Marked Moderate Normal Prominent A & systolic expansion

Fallot Tetralogy Fallot Triology Mild or moderate Marked Systolic Absent or thrill mild Marked absent PApulsation absent Present & diastolic shock RVH absent Eisenmenge r”s

S 2 single Split with weak P 2 Closely split& accentuatr ed P 2 Click Absent Present Syst. murmur Mild or moderate Harsh Mild Diast. murmure absent PR ( usually)

Gallop ECG X- Ray Never May be present RVH , but RVH with no strain stran - Lung Peripheral oligemia , oligemia, lung small PA enlarged oligemia, en , coeur en PA, , Big larged main Sabot & heart & PA & its Right aortic normal two arch aortic arch branches+ Big heart

Echo Valvular PS - VSD ASD -- aortic overridi -- RVH ng -PS , -Determi ne the site of defect & PH+

Catheterization -Low PA pressure , - RV & aortic pressures are equal , - Catheter may pass from RV to aorta -RV Angio Anatomy -Low PA -High PA pressure , pressure -RV pressure -- RV may exceed pressure aortic may exceed pressure , -Catheter cannot pass from RV to aorta -RV angio anatomy r

Diagnostic Work-up 1 - Clinical assessment. 2 - ECG. 3 - X-ray 4 - Echo-Doppler assessment. 5 -Cardiac catheterizatiopn. 6 - Others: - MRI. -CT. - Radionucleide assessment.

Special X-Ray Cotour

* Examples: 1 - Boot-shaped heart (Coeur-en Sabot ) Fallot Tetralogt 2 - Scimitar” syndrome ( figure of 8) Total anomalies of the pulmonary venous drainage 3 - Box-shaped heart Ebstein “

4 - Goose-neck appearance Trunchus arteriosus. 5 - Figure of (3) Coarctation of aorta. 6 - Reverse appearance on barium swallow (E-sign) Coarctation of aorta. 7 - Rib-notching Coarctation of aorta. 8 - Egg-en situ TGA.

Boot-shaped heart ( Coeur-en)

Scimitar” syndrome ( figure of- 8)

Rib-notching

Aneurysmally Dilated Pulm. Artery (special left)

Egg-en situ.

Box-shaped heart.

Echocardiography

VSD

VSD

Endocardial Cashion Defect

Fallot” Tetralogy

TGA

TGA

Double –outlet RV

Problems with Congenital HD

1 - Infective Endocarditis: All congenital HD are prone to IE except ASD. 2 - Heart failure. 3 - sudden Death.

4 - Hematologic complications of chronic hypoxemia include: - Erythrocytosis; iron deficiency and bleeding diathesis - Hemostatic abnormalities have been documented in cyanotic patients with erythrocytosis and can occur in up to 20% of patients.

5 - Neurologic complications: - Cerebral hemorrhage. - Paradoxical cerebral emboli. - Brain abscess. 6 - Renal dysfunction: - It can manifest itself as proteinuria, hyperuricemia, or renal failure. - Urate nephropathy, uric acid nephrolithiasis and gouty arthritis are rare but may occur.

7 - Rheumatologic complications: 8 - Gallstones: It is composed of calcium bilirubinate and consequent cholecystitis.

9 - Arrhythmias Patients with Eisenmenger syndrome are at risk for sudden cardiac death, the etiology of which remains poorly defined.

The choice of antiarrhythmic drugs are complicated by: -The presence of ventricular dysfunction and lung disease. - The pro-arrhythmic effects. - The use of pacemakers to treat bradyarrhythmias, which are primary or secondary to antiarrhythmic therapy can be complicated by Inadequate venous access.

10 -The decision to use anticoagulants: It is complicated by the presence of: - Bleeding diathesis. - Difficulty obtaining a true measure of INR due to reduced plasma volume.

• Interventional Options 1 - Percutaneous closure of intracardiac shunts. A variety of devices can be used to close ASDs, PDAs and occasionally VSDs 2 - Palliative surgical interventions : It is performed in patients with cyanotic lesions. They are defined as those operations which serve to either increase or decrease pulmonary blood flow while allowing a mixed circulation and cyanosis to persist.

3 - Physiologic repair: • It is a term which can be applied to procedures which result in total or near-total anatomic and physiologic separation of the pulmonary and systemic circulations in complex cyanotic lesions thereby resulting in relief of cyanosis. 4 - Heart & Lung Transplantation : • One or both lungs with surgical shunt closure and heart-lung transplantation have been performed in cyanotic patients with or without palliation who are no longer candidates for other forms of intervention.