Congenital Heart Disease in the Adult Maryam. 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
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)
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 patientsincluding : 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
CXR RA 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
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
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….
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