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Congenital heart diseasesCHD are the abnormalities of the heart or blood vessels that are present from birth.Disorders arise during the 3rd to 8th week of gestation as major heart structure begin and form to function.INCIDENCE

VSD 42%ASD 10%Pulmonary stenosis 8%PDA 7%TOF 5%Etiology and pathogenesis

In 90% of the cases the cause is unknown. In 10% of the cases,The environmental & genetic factors (multifactorial) leading to CHD.Single gene mutation, chromosomal deletion or additions.Single gene mutations that affect proteins of transcription factors.The environmental factors responsible for CHD areCongenital rubella infectionGestational diabeticsTeratogenic effects (Isotretinoin, alcohol,)And nutritional defect( folate supplements reduce the risk of CHD)Living in high altitude(PDA)Maternal risk factors

Increasing age> 45 year oldPrevious child having congenital heart disease.Poorly controlled Diabetes Mellitus (VSD,AV stenosis)Alcohol intake during pregnancy (VSD,PS)Congenital rubella infection(PDA,VSD,ASD)Drugs like Diphenylhydantoin(PS,AV stenosis)

Mutations in NOTCH pathway associated with bicuspid aortic valve and TOFFibrillin defect Marfan syndrome (Coarctation of aorta) The three transcription factors mutation (GATA 4, TBX5 NKX2-5)responsible for the ASD and VSD in some patients.Trisomy 21 in this 40% of patients will have CHD.CONGENITAL HEARTDEFECTSOverall incidence 1% of USA births.The incidence is higher among the premature infants than full term newborns.The 1st degree relatives of affected patients are increased risk of developing CHD.

7The three main classification areMalformations causing Left to right shunt1.ASD2.Patent foramen ovale3.VSD4.PDA5.Atrio ventricular septal defectConsequences of Left right shunt

Volume overload in the right side of the heartpulmonary HypertensionRVH (concentric hypertrophy)LVH due to more blood to left side of the heart(ecentric hypertrophy)Reversal of the shunt due to increase in the pressure more on the right side than the left side, leads to cyanosis late onset (EISENMENGER SYNDROME)Also called as TARDIVE CYANSOS

10LEFT to RIGHT SHUNTS, NON-cyanoticMalformation causing right to left shunt1.TOF2.Transpositions of great arteries3.Perstitent Trancus arteriosus4.Triscupid atresiaConsequences due to right to left shuntunoxygenated blood mixing up with oxygenated blood reducing the O2 saturation on the left side of the heart leads to CYANOSIS.(Depends on volume of blood)Polycythemia due to decrease in the O2 saturation stimulates the release of erythropoitin from kidney in turn increase in the RBC production.Clubbing --Reduced O2 saturation.Obstructive congenital anomaliesCoarctation of aortaPS and atresiaASAtrial Septal DefectASD is an opening in the atrial septum permitting free communication of blood between the atria. Seen in 10% of all CHD.More common in females than males.

ASDIt is an abnormal opening in the atrial septum due to incomplete tissue formation. Usually asymptomatic until adulthoodSECUNDUM (90%): Defective fossa ovalisPRIMUM (5%): Next to AV valves, mitral cleftSINUS VENOSUS (5%): Next to SVC with anomalous pulmonary veins draining to SVC or RA16Atrial Septal DefectThere are 3 major types:

Secundum ASD at the Fossa Ovalis, most common.

Primum ASD lower in position & is a form of ASVD, MV cleft.

Sinus Venosus ASD high in the atrial septum, associated w/partial anomalous venous return & the least common.

Atrial Septal Defect Secundum ASDSinus Venosus ASD

Atrial Septal DefectClinical Signs & SymptomsRarely presents with signs of CHF or other cardiovascular symptoms.

Most are asymptomatic but may have easy fatigability or mild growth failure.

Cyanosis does not occur unless pulmonary HTN is present.

Atrial Septal Defect wide and Fixed split S2. Grade II-III/VI systolic ejection murmur LSB.(functional murmur)ComplicationsHFPHParadoxical embolization

Atrial Septal DefectTreatment:

Closure is performed electively between ages 2 & 5 yrs to avoid late complications.Once pulmonary HTN w/ shunt reversal occurs this is considered too late.

Mortality is < 1%.

Patent foramen ovale

It is a small hole created by an open flap of tissue in the atrial septum.Important during fetal circulation right to left shunt from the placenta.Closes spontaneously at birth remain open leads to PFO.Patent foramen ovaleThe foramen ovale is patent in 20-30% of normal adults. Although it usually remains functionally closed, any abnormality increasing right atrial pressure above left atrial pressure can produce aright-to-left shunt across a patent foramen ovale.

A 5-year-old boy is found to have a harsh holosystolic murmurheard at the left 4th intercostal space. The child has a historyof recurrent pneumonias and respiratory tract infections. Anechocardiogram reveals a heart defect and biventricular cardiachypertrophy. Cardiac catheterization discloses pulmonary hypertension

VSDBy far, most common CHD defectOnly 30% are isolatedOften with TETRALOGY of FALLOT90% involve the membranous septumIf muscular septum is involved, likely to have multiple holesSMALL ones often close spontaneouslyLARGE ones progress to pulmonary hypertension.26

Ventricular Septal DefectVSD is an abnormal opening in the ventricular septum, which allows free communication between the Rt & Lt ventricles. Accounts for 42% of CHD.

Ventricular Septal DefectTwo typesPerimembranous (or membranous) Most common.

Infundibular VSD) involves the RV outflow tract.

Muscular VSD can be single or multiple.

Ventricular Septal DefectHemodynamics

The left to right shunt occurs secondary to VSD.This leads to elevated RV & pulmonary pressures & volume hypertrophy of the LA & LV.Ventricular Septal DefectClinical Signs & Symptoms

Small - moderate VSD, 3-6mm, are usually asymptomatic and 50% will close spontaneously by age of 2yrs.

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Moderate large VSD, almost always have symptoms and will require surgical repair.

Ventricular Septal DefectClinical Signs & Symptoms

II-III/VI harsh holosystolic murmur heard along the LSB, more prominent with small VSD, maybe absent with a very Large VSD.

ComplicationsPulmonary hypertension,CHF, FTT, Respiratory infections, exercise intoleranceSymptoms develop between 1 6 months

Ventricular Septal DefectTreatment

Small VSD - no surgical intervention, no physical restrictions, just reassurance and periodic follow-up and endocarditis prophylaxis.

Symptomatic VSD - Medical treatment initially with afterload reducers & diuretics.

Ventricular Septal DefectTreatment

Indications for Surgical Closure:

Large VSD w/ medically uncontrolled symptomatology leads to failure to thrive.

Ages 6-12 mo w/ large VSD & Pulm. HTN

VSD

VSD

PDAAs a result of ductus arteriosus( blood from PA to aorta during fetal period)90% isolatedHARSH, machinery-like murmurLR, possibly RL as pulmonary hypertension approaches systemic pressureClosing the defect may be life savingKeeping it open may be life saving (Prostaglandin E2). Why? Ans: TGA, TA, TAPVC37

PDA

Patent Ductus ArteriosusPDA Persistence of the normal fetal vessel that joins the PA to the Aorta.Normally closes in the 1st wk of life can remain patent up to 21 days, if it fails to close after 21 days, it is a patent PDA.

Accounts for 5% of all CHD, seen in 10% of other congenital heart lesions and can often play a critical role in some lesions.Female : Male ratio of 2:1

Often associated with coarctation & VSD.Patent Ductus ArteriosusQuestion:What TORCH infection is PDA associated with?

Answer: RubellaPatent ductus arteriosus (PDA)Patent ductus arteriosus (PDA) is associated with prematurity.and congenital rubella infection.Pregnant women living in high altitude.Present in Neonatal respiratory distress syndrome complication.PDA and differential cyanosis differential cyanosis i.e. cyanosis of the lower extremities but not of the upper body. Differential cyanosis is the result of reduced arterial oxygen saturation in the distal aorta compared to that in the aorta proximal to the left subclavian artery. The most likely cause is right-to-left shunting of blood flow through a patent ductus arteriosus (PDA) into the junction between the aortic arch and the descending aorta. Reversal of shunt leading to cyanosis in the lower limbs, called as Differential cyanosis

Patent Ductus ArteriosusHemodynamicsAs 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.(Pulmonary vascular resistance :systemic vascular resistance)

Small PDA, pressures in PA, RV, RA are normal.Clinical Signs & Symptoms

Small PDAs are usually asymptomatic. Large PDAs can result in symptoms of CHF,, Failure to thriveEnlarged heart, prominent apical impulseClassic continuous machinary systolic murmur.ORTrain in a tunnel murmur.Gibsons murmur.

Patent Ductus ArteriosusTreatmentIndomethacin, 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%7.In the uncomplicated patent ductus arteriosus, as might be seen in an infant 6 months of age, blood flows from the aorta to the: A. pulmonary vein B. pulmonary artery C. right ventricle D. right atrium E. left atriumA 2-week-old girl is found to have a harsh murmur along theleft sternal border. The parents report that the baby gets bluishwhen she cries or drinks from her bottle. Echocardiogramreveals a congenital heart defect

Right-to-Left Shunts

Tetralogy of Fallot Tetralogy of Fallot is the most common cause of cyanotic congenital heart disease. The four componants are (1) VSD, (2) obstruction to the right ventricular outflow tract (subpulmonic stenosis), (3)Overriding of the aorta (4) right ventricular hypertrophy

TOF

The heart is large and "boot shaped" in tetralogy of Fallot as a result of right ventricular hypertrophy; The VSD is usually large.The aortic valve forms the superior border of the VSD.The obstruction is due to narrowing of the infundibulum.right ventricular wall is markedly thickened and may even exceed that of the left. VSD of the membranous portion of the interventricular septum, and the aortic valve lies immediately over the VSD. The pulmonary outflow tract is narrowed, and, in a few cases, the pulmonic valve may be stenotic..Clinical features. PINK TETROLOGYIf the pulmonic obstruction is mild, the condition resembles an isolated VSD, because the high left-sided pressures on the left side cause a left-to-right shunt with no cyanosis. More commonly, marked stenosis causes significant right-to-left shunting and consequent cyanosis early in life. As patients with tetralogy grow, the pulmonic orifice does not enlarge, despite an overall increase in the size of the heart. Hence, the degree of stenosis typically worsens with time resulting in increasing cyanosis.CauseAntero superior displacement of the infundibular septum, so that there is abnormal division into the pulmonary trunk and aortic root.

Cyanotic spells,patients develop erythrocytosis with attendant hyperviscosity, (polycythemia)Clubbingand hypertrophic osteoarthropathy; Infective endocarditis, systemic emboli, and brain abscesses.Transposition of the Great (TGA)Transposition of the Great (TGA) is a discordant connection of the ventricles to their vascular outflow. The embryologic defect is an abnormal formation of the truncal and aortopulmonary septa, so that the aorta arises from the right ventricle and the pulmonary artery emanates from the left ventricle The atrium-to-ventricle connections, however, are normal (concordant), TGAAorta lies anterior and to the right of the pulmonary artery.

Clinical Features The predominant manifestation of TGA is early cyanosis. The outlook for neonates with TGA depends on the degree of the shunting, the magnitude of the tissue hypoxia, and the ability of the right ventricle to maintain systemic pressures. Infusions of prostaglandin E2 can be used to maintain the patency of the ductus arteriousus.Patients with TGA and a VSD (35%) tend to have a relatively stable shunt. But patients with PDA and patent foramen ovale have unstable shunt.Tricuspid atresiaComplete occlusion of the tricuspid valve orifice is known as tricuspid atresia.Embrionically unequal division of AV canal, so mitral valve is larger and hypoplasia of the right ventricle.Cyanosis present from birth and high mortality in the 1st few weeks.

Obstructive Heart LesionsPulmonary Stenosis

Aortic Stenosis

Coarctation of the AortaObstructive Lesions

Coarctation of the aortaIt is the constriction of the aorta.Common in males.Females with Turners syndrome is quite common.Two classic forms are

Infantile form -Tubular hypoplasia of the aortic arch proximal to the PDA is often symptomatic in early childhood severe form.Adult form-- is ridgelike infoldings of the aorta just opposite to the closed PDA.Some times more then 50% of cases is accompanied by Bicuspid aortic valve Congenital ASD VSD,Mitral regurgitationBerry aneurysms.

Clinical features. If it is with PDA symptoms in early life present.Cynosis of the lower limbs and weak femoral pulses.In adult life present with HT in the upper extremities. And weak pulse and hypotension in the lower limbs, with arterial insufficiency leading to intermittent claudication and coldness.Clinical Signs & SymptomsLower extremityClassic signs of coarctation are diminution or absence of femoral pulses.Intermittent claudication Hypotension in the lower extremity.Differential cyanosis if it is infantile with patent PDA.Lower extremity muscle weakness or fatigue with exercise maybe caused by inadequatelower body perfusion.

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Upper extremityHigher BP in the upper extremities as compared to the lower extremities.Headache and dizziness, epistaxis.Berry aneurysms and sub archinoid hemorrhageRib notchingDevelopment of collaterals between the pre coarctation and post coarctations through the enlarged inter costal arteries produces erosions of the undersurface of the ribs, called rib notching.Adult-type 1 postductal coarctation greatly increased by the finding of enlarged, palpable intercostal vessels which indicate the development of a collateralarterial circulation to the region of the aorta distal to the coarctation

Postductal coartation

Coarctation of the AortaQuestion:What other heart anomaly is coarctation associated with?

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

Answer:Turners SyndromeCoarctation of the AortaHemodynamicsObstruction of left ventricular outflow pressure hypertrophy of the LV.

Coarctation of the AortaHF and shock.Differential cyanosis if PDA is still open Cardiomegaly, Rib notching on X-ray.Coarctation of the Aorta

Coarctation of the AortaTreatmentWith 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.

Angiogram coarctation of aorta

Pulmonary StenosisPulmonary 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 StenosisTreatmentMild 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.3 TypesValvular Most common.Subvalvular(subaortic) involves the left outflow tract.Supravalvular involves the ascending aorta is the least common.Aortic StenosisClinical Signs & SymptomsMild 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.Left ventricular hypoplastic syndromeSevere congenital AS leads to obstruction to left ventricular outflow causing Hypoplasia of the left ventricle and ascending aorta.

Aortic StenosisClinical Signs & SymptomsLV 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 StenosisTreatmentAortic 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.