CONGENITAL HEART DISEASE IN THE ADULTMaryam. Moradian

pediatric cardiologist

RAJAIE HEART CENTER

Introduction:

-Congenital heart disease (CHD) complicates 0.8% of all live births in the general population .(not including BAV, MVP)

-Substantial numbers of affected infants and children, estimated at >85% currently, reach adulthood.

Etiology:

• Sporadically (most cases, without a known specific cause)

• Multifactorial : genetic and environmental causes• Down, Turner, trisomy 13, 18, Hurler’s syndrome, homocystinuria, or type ІІ glycogen storage disease….

• Increased incidence in children of patients with CHD (mothers>fathers)

• In most cases, the nature of parent’s defect does not predict the lesion in affected offspring

Williams syndrome:

Pathophysiology:

•The anatomic and physiologic changes in the heart and circulation due to any specific CHD lesion are not static but, rather, progress from prenatal life to adulthood.

Fetal circulation

• DV• FO• DA

BAV-------> thicken, calcify… with time------>AS

ASD-------->PH after 4 th to 5 th decade

The size and nature of defect determine the onset of symptoms

• Small ASD…..may go undetected• Small muscular VSD…may resolve spontaneously• DTGA…shortly after birth• ..

Acyanotic Congenital Heart Disease with a Left-to-Right Shunt

•Atrial Septal Defect•Ventricular Septal Defect•Patent Ductus Arteriosus•…..

Septal Defects: ASD•10%-17% of CHD•More frequently in females (60%)•ostium secundum type (The most common) (60%)

•ostium primum type(20%)(AVSD, MV cleft)

•sinus venosus type (PAPVC)

ASD Location:

Patent Foramen Ovale

•Anatomic obliteration of the foramen ovale ordinarily follows its functional closure soon after birth, but residual "probe patency" is a normal variant

•The magnitude of the left-to-right shunt depends on:

1-the atrial septal defect size,

2-ventricular diastolic properties,

3-relative impedance in the pulmonary and systemic circulations.

•Patients with atrial septal defect are usually asymptomatic in early life, although there may be some physical underdevelopment and an increased tendency for respiratory infections;.

Physical Examination:

•Parasternal RV impulse• Increased flow across the pulmonic valve is responsible for a midsystolic pulmonary outflow murmur. (EJECTION MURMUR)

•The second heart sound is widely split and is relatively fixed in relation to respiration.

cardiorespiratory symptoms occur in many older patients including :

atrial arrhythmias,

pulmonary arterial hypertension,

L↔R & R→L shunt,

cardiac failure.

Electrocardiogram (ECG):

right-axis deviation

rSr' pattern in the right precordial leads (RBBB)

ectopic atrial pacemaker

first-degree heart block

left superior axis deviation(ASD primum)

Electrocardiogram (ECG):

With PAH:

RVH

CXRRA enlargement

RV enlargement

PA dilation

Increased pulmonary vascular marking

Echocardiogram:

•TTE : PA,RA,RV enlargement•TEE : is indicated if the transthoracic echocardiogram is ambiguous, which is often the case with sinus venosus defects, or during catheter device closure

catheterization

•Cardiac catheterization is performed if :

inconsistencies exist in the clinical data,

if significant pulmonary hypertension is suspected,

catheterization

associated malformations are suspected,

or if coronary artery disease is a possibility.

Atrial Septal Defect: Treatment:

• closure or repair (<25 yr)•percutaneous transcatheter device closure for appropriate size and shape ASD secundum

•IE: risk of IE is quite low

Echocardiography finding

Ventricular Septal Defect :

•Defects of the ventricular septum are common as isolated defects or as a component of a combination of anomalies.

•1 in 500 normal birth•50% of VSDs close spontaneously during childhood

VSD:

Types • Type 1, supracristal, beneath the aortic annulus AI• Type2,perimembranous, most common,80%, in

membranous portion of septum• Type3,involve the atrioventricular canal,MV & TV

abnormality ,ASD primum , Down syndrome• Type4, muscular VSD,close spontaneously if small

•A wide spectrum exists in the natural history of ventricular septal defect, ranging from spontaneous closure to congestive cardiac failure and death in early infancy.

•Spontaneous closure is more common in patients born with a small ventricular septal defect and occurs in early childhood in most patients

•Patients with large ventricular septal defects and pulmonary hypertension are those at greatest risk for developing PVOD

•PVOD(Eisenmenger syndrome), symptoms consist of exertional dyspnea, chest pain, syncope, and hemoptysis. The right-to-left shunt leads to cyanosis, clubbing, and erythrocytosis.

•RV outflow tract obstruction develops in ~5–10% of patients who present in infancy with a moderate to large left-to-right shunt.

•In ~5% of patients, aortic valve regurgitation results from insufficient cusp tissue or prolapse of the cusp through the interventricular defect.

Physical findings• Hyperdynamic precordium• Holosystolic left parasternal murmur ± thrill

• ECG …..LVH RVH

• CXR….cardiomegaly prominent pulmonary vasculature

•Two-dimensional echocardiography : number & location of VSD s…

• Hemodynamic and angiographic study: to assess the status of pulmonary vascular bed….

CXR VSD:

VSD:

Ventricular Septal Defect: Treatment:

•Surgery is not recommended for patients with normal pulmonary arterial pressures with small shunts (pulmonary-to-systemic flow ratios of <1.5 to 2.0:1.0).

•Operative correction or transcatheter closure is indicated when there is a moderate to large left-to-right shunt with a pulmonary-to-systemic flow ratio >1.5:1.0 or 2.0:1.0, in the absence of prohibitively high levels of pulmonary vascular resistance.

Patent Ductus Arteriosus:•The ductus arteriosus is a vessel leading from bifurcation of PA to aorta just distal to left subclavian artery.

•Normally, the vascular channel is open in the fetus but closes immediately after birth.

Patent Ductus Arteriosus:

•Physical exam : continuous "machinery" murmur at the upper left sternal edge.

•Pulmonary hypertension, right-to-left shunting, ( Eisenmenger syndrome) : cyanosis

(differential cyanosis)

• LVH in EKG• Prominent PA, LAE, LVE in CXR

•The leading causes of death in adults with PDA:

-cardiac failure

-infective endocarditis

-occasionally severe pulmonary vascular obstruction may cause aneurysmal dilatation, calcification, and rupture of the ductus.

Patent Ductus Arteriosus: Treatment:•patent ductus should be surgically ligated or divided.

•Transcatheter closure using coils, buttons, plugs, and umbrellas has become commonplace for appropriately shaped defects.

•Thoracoscopic surgical approaches are considered experimental.

•Operation should be deferred for several months in patients treated successfully for infective endocarditis because the ductus may remain somewhat edematous and friable.

VALVULAR DEFECTS

•LVOTO:

Valvular Aortic Stenosis

(most often secondary toBAV)

Subaortic Stenosis

Supravalvular Aortic Stenosis

Valvular Aortic Stenosis: • Bicuspid aortic valves are more common in males than in females.

• 2% of the population• Associated abnormalities ~20% COA, PDA • Diagnosis is best made by echocardiography, which can reveal the morphology of the aortic valve and aortic root and quantitate the degree of stenosis or regurgitation

Symptoms

• 5th , 6th decade• AS chest pain • Syncope• CHF• Aneurismal dilation of thoracic aorta, dissection• Sudden death• IE• AI

Physical examination• Ejection systolic murmur• Click• Diastolic murmur (AI)

Valvular Aortic Stenosis: Treatment

•prophylaxis against infective endocarditis and, digoxin and diuretics and sodium restriction while awaiting operation. A dilated aortic root may require beta blockers.

•severe aortic stenosis :

strenuous physical activity should be avoided even when the patient is asymptomatic

•Aortic valve replacement is indicated in adults with critical obstruction, i.e., with an aortic valve area <0.45 cm2/m2,

• In asymptomatic children or adolescents or young adults with critical aortic stenosis without valvular calcification or these features, aortic balloon valvuloplasty is often useful

Subaortic Stenosis:

•The discrete form of subaortic stenosis consists of a membranous diaphragm or fibromuscular ring encircling the LVOT just beneath the base of the aortic valve.

Supravalvular Aortic Stenosis (SVAS) •This anomaly consists of a localized or diffuse narrowing of the ascending aorta Just above the level of the coronary arteries at the superior margin of the sinuses of Valsalva.

•In contrast to other forms of aortic stenosis, the coronary arteries are subjected to elevated systolic pressures from the left ventricle,are often dilated and tortuous, and are susceptible to premature atherosclerosis

•In most patients, a genetic defect for the anomaly is located in the same chromosomal region as elastin on chromosome 7.

Pulmonary valve s tenosis

•Obstruction to RV outflow may be localized to the supravalvular, valvular, or subvalvular levels

•Valvular pulmonic stenosis is the most common

•Patients with mild pulmonic stenosis are generally asymptomatic

•Symptoms vary with the degree of obstruction. Fatigue, dyspnea, RV failure, and syncope

• In mild cases (PPG<30 mmHg, the ECG is normal, whereas moderate(PPG> 50 mmHg) and severe stenosis are associated with RV hypertrophy.

•The chest x-ray with mild or moderate pulmonic stenosis shows a heart of normal size with normal lung vascularity.

Pulmonary Stenosis: Treatment

•The cardiac catheter technique of balloon valvuloplasty

•surgically

Coarctation of the Aorta:

•Narrowing or constriction of the lumen of the aorta may occur anywhere along its length but is most common distal to the origin of left subclacian artery near the insertion of the ligamentum arteriosum

•Coarctation occurs in 5%-8% of patients with congenital heart disease,

• More common in males than females•25%-50% have BAV•Most common extracardiac anomaly: aneurysm of Willis circle

•Clinical manifestations depend on the site and extent of obstruction and the presence of associated cardiac anomalies, most commonly a bicuspid aortic valve.

• Circle of Willis aneurysms may occur in up to 10% and pose a high risk of sudden rupture and death.

•Most children and young adults are asymptomatic.

•Headache, epistaxis, cold extremities, and claudication with exercise may occur, hypertension in the upper extremities and absence pulsations in the femoral arteries

•The chief hazards of proximal aortic severe hypertension include

cerebral aneurysms

hemorrhage,

aortic dissection and rupture,

premature coronary arteriosclerosis,

LV failure

infective endarteritis

CXR

•Indentation of the aorta at the site of coarctation and pre- and poststenotic dilatation (the "3" sign) along the left paramediastinal shadow are almost pathognomonic.

•Notching of the 3rd to 9th ribs, an important radiographic sign, is due to inferior rib erosion by dilated collateral vessels

•Two-dimensional echocardiography

•Transesophageal echocardiography and MRI

•cardiac catheterization is indicated primarily to evaluate the coronary arteries or to perform catheter based intervention (angioplasty and stent of the coarctation).

Coarctation of the Aorta: Treatment

•Treatment is usually surgical, although percutaneous catheter balloon with stent dilatation is now an option

Complex Congenital Heart Lesions• Tetralogy of Fallot• Complete Transposition of the Great Arteries • Single Ventricle • Tricuspid Atresia • Ebstein Anomaly• Congenitally Corrected Transposition • Malpositions of the Heart

Tetralogy of Fallot: •The four components of the tetralogy of Fallot

1- malaligned ventricular septal defect,

2- obstruction to RV outflow,

3- aortic override of the ventricular septal defect

4- RV hypertrophy

TOF Anatomy:

•A right-sided aortic arch and descending thoracic aorta occur in ~25% of patients with tetralogy.

•Severe cyanosis and erythrocytosis occur, and symptoms of systemic hypoxemia are prominent.

Clubbing:

•The ECG shows RV hypertrophy. •Chest x-ray shows a normal-sized, boot-shaped heart (coeur en sabot) with a prominent right ventricle and a concavity in the region of the pulmonary conus.

boot-shaped (coeur en sabot)

•Pulmonary vascular markings are typically diminished, and the aortic arch and knob

may be on the right side. •Two-dimensional echocardiography •Classic contrast angiography •MR or CT angiography with 3-dimensional reconstruction.

Complete Transposition of the Great Arteries:

•The aorta arises from the right ventricle, and the pulmonary artery emerges from the left ventricle, which results in two separate parallel circulations

D-TGA

• 90% mortality in first year without correction

• VSD• LVOTO• COA

•Transposition is more common in males and accounts for 5%-7% of cyanotic heart disease.

• Senning • Mustard• Arterial switch

Ebstein Anomaly:

•Characterized by a downward displacement of the tricuspid valve into the right ventricle

•The abnormally situated tricuspid orifice produces an "atrialized" portion of the right ventricle

• (1) progressive cyanosis from right-to-left atrial shunting,

• (2) symptoms due to tricuspid regurgitation and RV dysfunction,

• (3) paroxysmal atrial tachyarrhythmias with or without atrioventricular bypass tracts ("WPW" syndrome).

• Diagnostic findings by echocardiography

Congenitally Corrected Transposition:

•Transposition of the ascending aorta and pulmonary trunk and inversion of the ventricles.

•Progressive RV dysfunction and tricuspid regurgitation

•Ebstein-type anomalies of the left-side tricuspid atrioventricular valve are common.

• Ventricular septal defect or "pulmonary stenosis" due to obstruction to outflow from the right-sided subpulmonary (anatomic left) ventricle may coexist.

•Complete heart block occurs at a rate of 2–10% per decade.

• VSD • PS• CHB• Ebstein• Progressive RV dysfunction

Fontan operation,SV• TA • DOLV• Large AVSD

Fontan operation

Optimize pulmonary blood flow without volume loading the ventricle

Complications • Thrombosis• Obstruction• Leaks• Ventricular dysfunction• Arrhythmias • Hepatic dysfunction• Protein losing enteropathy

Eisenmenger syndrome • The term Eisenmenger syndrome is applied to patients

with a large communication between the two circulations at the aortopulmonary, ventricular, or atrial levels and bidirectional or predominantly right-to-left shunts because of high-resistance and obstructive pulmonary hypertension.

• VSD PDA ASD

Adult

3rd

Hyperviscosity syndrome

Chronic hypoxemia …… erythrocytosis due to increased erythropoietin production .

Headache

Altered mentation

• Excessive phlebotomy can lead to iron deficiency

• Iron depletion results in a larger number of smaller (microcytic) hypochromic red cells that are less capable of carrying oxygen

• As such, iron depleted erythrocytosis ------> increasing symptoms

• Hemostasis is abnormal in cyanotic CHD…. abnormalities in platelet function & coagulation system

Pregnancy:• Strongly discouraged• OCP aggravate thrombosis