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Congenital Heart DiseaseCongenital Heart Disease

J.B. Handler, M.D.J.B. Handler, M.D.

Physician Assistant ProgramPhysician Assistant Program

University of New EnglandUniversity of New England

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AbbreviationsAbbreviations ASD- atrial septal defectASD- atrial septal defect VSD- ventricular septal defectVSD- ventricular septal defect PDA- patent ductus arteriosusPDA- patent ductus arteriosus PS- pulmonic stenosisPS- pulmonic stenosis HF- heart failure; aka CHF- congestive HF- heart failure; aka CHF- congestive

heart failureheart failure SAP- systolic arterial pressureSAP- systolic arterial pressure RV- right ventricleRV- right ventricle LV- left ventricleLV- left ventricle PA- pulmonary arteryPA- pulmonary artery PAH- pulmonary arterial hypertensionPAH- pulmonary arterial hypertension LVSP- left ventricular systolic pressureLVSP- left ventricular systolic pressure PFO- patent foramen ovalePFO- patent foramen ovale LAE- left atrial enlargementLAE- left atrial enlargement

PVOD- pulmonary vascular PVOD- pulmonary vascular obstructive/occlusive diseaseobstructive/occlusive disease

PuVR- pulmonary vascular resistancePuVR- pulmonary vascular resistance SVR- systemic vascular resistance (same SVR- systemic vascular resistance (same

as TPR, PVR)as TPR, PVR) CO- cardiac outputCO- cardiac output PAPVC- partial anomolous pulmonary PAPVC- partial anomolous pulmonary

venous connectionvenous connection Sx- symptomsSx- symptoms Qp/Qs- pulmonary blood flow/systemic Qp/Qs- pulmonary blood flow/systemic

blood flowblood flow LLSB- lower left sternal borderLLSB- lower left sternal border RVSP- right ventricular systolic pressureRVSP- right ventricular systolic pressure PFO- patent foramen ovalePFO- patent foramen ovale MCA- middle cerebral arteryMCA- middle cerebral artery

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Incidence and EtiologyIncidence and Etiology

8 per thousand births- one third with critical 8 per thousand births- one third with critical disease.disease.

Majority (>80% survive to adulthood)Majority (>80% survive to adulthood)

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Incidence -Specific DefectsIncidence -Specific Defects

VSD - 28%VSD - 28% Pulmonic Stenosis - 9.5%Pulmonic Stenosis - 9.5% Tetralogy of Fallot- 8-10% (complex ConHD)Tetralogy of Fallot- 8-10% (complex ConHD) PDA - 8.7%PDA - 8.7% ASD - 6.7%ASD - 6.7% Coarctation of the Aorta - 4.4%Coarctation of the Aorta - 4.4% Aortic Stenosis - 4.4%Aortic Stenosis - 4.4% Congenital Coronary Anomalies - 1.2%Congenital Coronary Anomalies - 1.2%

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Complications-CHDComplications-CHD

HF (aka CHF): May be early in life depending on the HF (aka CHF): May be early in life depending on the defect and it’s severity. HF as adult with milder forms of defect and it’s severity. HF as adult with milder forms of congenital heart disease if not corrected.congenital heart disease if not corrected.

CyanosisCyanosis: : Common with defects that result in RCommon with defects that result in RL L shunting of blood.shunting of blood. Also occurs in presence of severe Also occurs in presence of severe hypoxemia from other causes (e.g severe HF). hypoxemia from other causes (e.g severe HF). – Clubbing of fingers occurs when cyanosis is long standing.Clubbing of fingers occurs when cyanosis is long standing.

Hypoxemia from HF responds to OHypoxemia from HF responds to O22; hypoxemia from ; hypoxemia from

RRL shunting does not.L shunting does not.

Clubbing of FingersClubbing of Fingers

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Complications of CHDComplications of CHD

Polycythemia: Hct >60 common with RPolycythemia: Hct >60 common with RL L shunting and associated chronic hypoxemia.shunting and associated chronic hypoxemia.

Paradoxical Emboli: Venous thrombus ends up in Paradoxical Emboli: Venous thrombus ends up in systemic circulation. See below.systemic circulation. See below.

Stroke: Stroke: – Polycythemia from R-L shunting can lead to direct Polycythemia from R-L shunting can lead to direct

intracranial thrombosis. intracranial thrombosis. – Paradoxical embolus as noted.Paradoxical embolus as noted.

Retardation of growth Retardation of growth

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Additional Complications-CHDAdditional Complications-CHD

Pulmonary Arterial HypertensionPulmonary Arterial Hypertension (PAH)-Direct (PAH)-Direct transmission of SAP to RV or PA via a large transmission of SAP to RV or PA via a large communication (e.g. VSD, PDA).communication (e.g. VSD, PDA).

Pulmonary Vascular Obstructive DiseasePulmonary Vascular Obstructive Disease (PVOD)-Destruction of pulmonary vascular (PVOD)-Destruction of pulmonary vascular (arteriolar) bed in presence of continuous (arteriolar) bed in presence of continuous pressurepressure overload overload (much(much less common with less common with volume overload alone); results in marked volume overload alone); results in marked increase in PuVR and increase in PuVR and furtherfurther elevation of PAPelevation of PAP..

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Ventricular Septal DefectVentricular Septal Defect

An opening in that part of the ventricular septum An opening in that part of the ventricular septum that separates the two ventricles.that separates the two ventricles.

80% involve the thin membranous septum.80% involve the thin membranous septum. 20% involve the muscular septum.20% involve the muscular septum. IsolatedIsolated vs complex lesions vs complex lesions

– Assoc. conditions: Coarct. of the Aorta, ASD, PDA, Assoc. conditions: Coarct. of the Aorta, ASD, PDA, sub-aortic stenosissub-aortic stenosis

VSDVSD

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Abnormal Physiology (VSD)Abnormal Physiology (VSD) Small “restrictive” VSD: Small “restrictive” VSD: large resistance large resistance

to flow through small hole; normal RVP to flow through small hole; normal RVP and PAP; and PAP; small L to R shunt; well small L to R shunt; well toleratedtolerated..

Mod/large VSD’s allow varying Mod/large VSD’s allow varying transmission of LVP into the RVtransmission of LVP into the RVPA. PA. PAH common and PVOD develops over PAH common and PVOD develops over time. Large defects result in LV dilation time. Large defects result in LV dilation and failure.and failure.

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Clinical Manifestations (VSD)Clinical Manifestations (VSD)

History: Varies depending on size of defect.History: Varies depending on size of defect.– Small VSD- no symptoms; Small VSD- no symptoms; murmurmurmur appears within appears within

36 hrs of birth; intensity may change with age.36 hrs of birth; intensity may change with age.– Larger defects- Larger defects- HF early in life; surgical repairHF early in life; surgical repair

indicated. indicated. Small defect- Possible systolic thrill at LLSB; nl Small defect- Possible systolic thrill at LLSB; nl

SS22; harsh ; harsh holosystolic murmur along LSBholosystolic murmur along LSB..

Large defect: signs and symptoms of heart failure.Large defect: signs and symptoms of heart failure.

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Investigative Findings (VSD)Investigative Findings (VSD) CxR:CxR: variable variable findings reflect severity of findings reflect severity of

shunting. When severe, cardiomegaly, enlarged shunting. When severe, cardiomegaly, enlarged PA, HF.PA, HF.

ECG:ECG: variable variable findings depending on severity and findings depending on severity and duration. duration.

Echo-Doppler - diagnosticEcho-Doppler - diagnostic; identifies the size and ; identifies the size and location of the defect and presence of shunting; location of the defect and presence of shunting; RV and PA pressures can be estimated .RV and PA pressures can be estimated .

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Natural History (VSD)Natural History (VSD)

Majority of VSDs are small; 24% close Majority of VSDs are small; 24% close spontaneously by 18 mos, 50% by 4 yrs, more by spontaneously by 18 mos, 50% by 4 yrs, more by 10 yrs. Larger defects may become smaller but do 10 yrs. Larger defects may become smaller but do not close.not close.

HF occurs in 80% of infants with large VSD. Risk HF occurs in 80% of infants with large VSD. Risk of PVOD is high in moderate to large defects.of PVOD is high in moderate to large defects.

Risk of endocarditis if defect remains open Risk of endocarditis if defect remains open (regardless of size). But…. endocarditis (regardless of size). But…. endocarditis prophylaxis with antibiotics no longer indicated; prophylaxis with antibiotics no longer indicated; risk of antibiotics outweighs benefits.risk of antibiotics outweighs benefits.

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Management (VSD)Management (VSD) Medical: with small VSD need regular follow up; Medical: with small VSD need regular follow up;

periodic echo-doppler study will confirm closure.periodic echo-doppler study will confirm closure. Moderate and large VSD: treat HF as in adults; Moderate and large VSD: treat HF as in adults;

surgical repair surgical repair once HF improved.once HF improved.– Timing of surgery dependent on severity of shunt, LV Timing of surgery dependent on severity of shunt, LV

function and PAP; function and PAP; closure in early childhood years when closure in early childhood years when PAP remains elevated.PAP remains elevated.

– With most VSD’s primary closure or a patch can be placed With most VSD’s primary closure or a patch can be placed surgically with <1% mortality; normal life expectancy if surgically with <1% mortality; normal life expectancy if done early in life, before developing PVOD. Catheter done early in life, before developing PVOD. Catheter based techniques for closure are evolvingbased techniques for closure are evolvingpromising.promising.

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VSD: Long Term ComplicationsVSD: Long Term Complications

If PAH continues over time If PAH continues over time progressive, progressive, irreversible PVOD develops and surgery carries irreversible PVOD develops and surgery carries high mortality, with little if any benefit.high mortality, with little if any benefit.

In presence of significant PVOD: PuVR and PAP In presence of significant PVOD: PuVR and PAP rise dramatically. This can lead to rise dramatically. This can lead to shunt shunt reversalreversalR to L shuntingR to L shunting hypoxemia and Rt hypoxemia and Rt sided heart failure (Eisenmenger’s sided heart failure (Eisenmenger’s physiology/complex).physiology/complex).

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Case 1Case 1

A 31 y/o professional football player returns from Hawaii A 31 y/o professional football player returns from Hawaii (long plane flight) following the Pro Bowl (2004). On (long plane flight) following the Pro Bowl (2004). On returning home he has sudden onset of numbness and returning home he has sudden onset of numbness and weakness in his left arm (LA) and leg (LL) along with a weakness in his left arm (LA) and leg (LL) along with a small visual field defect. small visual field defect.

PE: Healthy man, anxious. Neuro: PE: Healthy man, anxious. Neuro: sensation and strength sensation and strength in LA>LL; in LA>LL; reflexes on left side. Legs: bruising of rt calf reflexes on left side. Legs: bruising of rt calf and thigh.and thigh.

MRI: rt hemispheric stroke (MCA territory)MRI: rt hemispheric stroke (MCA territory) Venous ultrasound: Inconclusive; ? thrombus in RLEVenous ultrasound: Inconclusive; ? thrombus in RLE What is going on here?What is going on here?

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Atrial Septal DefectAtrial Septal Defect

A through and through communication between the atria A through and through communication between the atria at the septal level.at the septal level.

Pathology: Large enough defect to allow free Pathology: Large enough defect to allow free communication between the atria.communication between the atria.

Most common form (previously undetected) of CHD in Most common form (previously undetected) of CHD in adultsadults; female to male ratio is 2:1.; female to male ratio is 2:1.

Atrial septum formed by Atrial septum formed by fusion*fusion* of 2 overlapping planes of 2 overlapping planes of tissue during fetal development. Most ASD’s occur in of tissue during fetal development. Most ASD’s occur in mid septummid septum due to lack of tissue for overlap. due to lack of tissue for overlap.

*Lack of fusion occurs in up to 25% of adults leaving a “patent foramen ovale”,a potential space/opening between the two atria.

Patent Foramen OvalePatent Foramen Ovale

ASDASD

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Anatomic Types of ASDAnatomic Types of ASD

Ostium secundumOstium secundum - -defect in mid septumdefect in mid septum at the at the fossa ovalis (80%) from incomplete development. fossa ovalis (80%) from incomplete development. – Associated partial anomalous pulmonary venous Associated partial anomalous pulmonary venous

connection is not uncommon; MVP present in some.connection is not uncommon; MVP present in some. Ostium primum- defect in lower atrial septum; Ostium primum- defect in lower atrial septum;

usually associated with additional defects.usually associated with additional defects. Sinus venosus defect (6%) - defect high in the Sinus venosus defect (6%) - defect high in the

atrial septum.atrial septum.

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Conditions Common to all ASDsConditions Common to all ASDs

RA, RV and PA enlarge - RA, RV and PA enlarge - volume overloadvolume overload Pulmonary HTN usually occurs Pulmonary HTN usually occurs latelate (3rd or 4th (3rd or 4th

decade) if lesion goes undetected up to that time decade) if lesion goes undetected up to that time in life; result of chronic volume overload x years.in life; result of chronic volume overload x years.

PVOD uncommonPVOD uncommon Why left to right shunting?Why left to right shunting?

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Abnormal Physiology (ASD)Abnormal Physiology (ASD)

L to R shunting at atrial levelL to R shunting at atrial level due to: due to:

Rt atrium more distensible than leftRt atrium more distensible than left

RV more compliant than LVRV more compliant than LV

PuVR <SVRPuVR <SVR Hemodynamic burdenHemodynamic burden: RV volume overload and : RV volume overload and

increased pulmonary blood flow; well tolerated increased pulmonary blood flow; well tolerated for for many years.many years.

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Clinical Presentation (ASD)Clinical Presentation (ASD)

Majority of Majority of children are asymptomaticchildren are asymptomatic Symptoms when present include fatigue, dyspnea, Symptoms when present include fatigue, dyspnea,

decreased stamina and usually begin in early 20’s.decreased stamina and usually begin in early 20’s. Most adults become increasingly symptomatic by Most adults become increasingly symptomatic by

3rd or 4th decade: fatigue, dyspnea and atrial 3rd or 4th decade: fatigue, dyspnea and atrial arrhythmia’s (Afib).arrhythmia’s (Afib).

““Paradoxical emboli” can result in stroke: Tedi Paradoxical emboli” can result in stroke: Tedi Bruschi, NE Patriots. Venous embolusBruschi, NE Patriots. Venous embolusRA RA through PFO* through PFO* LALALVLVRt carotidRt carotidMCA.MCA.

*Patent foramen ovale: incomplete fusion of atrial septum (tiny defect) allows clot to pass from RA to LA

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Physical Exam (ASD)Physical Exam (ASD)

Hyperdynamic RV (lift): RV volume increase Hyperdynamic RV (lift): RV volume increase leads to leads to contraction via Starling mechanism.contraction via Starling mechanism.

SS11 accentuated at LLSB accentuated at LLSB SS2 2 widely splitwidely split through inspiration/expiration: RV through inspiration/expiration: RV

ejection is delayed from volume overload.ejection is delayed from volume overload. Grade II-III midsystolic creshendo-Grade II-III midsystolic creshendo-

decreshendo mumurdecreshendo mumur, at upper LSB reflects , at upper LSB reflects increased blood flow across pulmonic valve. increased blood flow across pulmonic valve. Present during childhood.Present during childhood.

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Investigative FindingsInvestigative Findings ECG: rsR’ pattern in Rt precordial leads with mildly ECG: rsR’ pattern in Rt precordial leads with mildly

widened QRS (incomplete RBBB); widened QRS (incomplete RBBB); arrhythmias arrhythmias common in adults-Afib, Aflutter.common in adults-Afib, Aflutter.

Echo-DopplerEcho-Doppler: : RV volume overloadRV volume overload; enlarged RV, ; enlarged RV, RA; 2D echo and doppler RA; 2D echo and doppler identify the defectidentify the defect and and semi quantitate the shunt.semi quantitate the shunt.

Cardiac cath: Measurement of RV/PA pressures; Cardiac cath: Measurement of RV/PA pressures; quantification of shunting; identification of quantification of shunting; identification of anomalous pulmonary veins if present. Closure of anomalous pulmonary veins if present. Closure of ASD often performed percutaneously using ASD often performed percutaneously using catheters/devices.catheters/devices.

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Natural History and PrognosisNatural History and Prognosis

Defect often missed in childhoodDefect often missed in childhoodlisten for listen for murmurs.murmurs.

A A systolic ejection murmursystolic ejection murmur is the usual reason for is the usual reason for further evaluation (echocardiogram or consult).further evaluation (echocardiogram or consult).

Sx often begin in late teens and 20’s if large ASDSx often begin in late teens and 20’s if large ASD PA pressures start to rise in early 20’sPA pressures start to rise in early 20’s Incidence of Atrial Fibrillation and Flutter Incidence of Atrial Fibrillation and Flutter

increases each decade.increases each decade. Heart failure (Rt sided) and premature death occur Heart failure (Rt sided) and premature death occur

in adults without surgery.in adults without surgery.

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Management (ASD)Management (ASD)

Once Sx present (includes paradoxical emboli) Once Sx present (includes paradoxical emboli) surgical/surgical/cathetercatheter closure. closure.

If no SxIf no Sx surgical/catheter closure recommended surgical/catheter closure recommended if *if *Qp:QsQp:Qs is > 1.5:1, or if PAH present. is > 1.5:1, or if PAH present.

Transcatheter closure devices (double umbrella) Transcatheter closure devices (double umbrella) applicable to patients with smaller defect.applicable to patients with smaller defect.

*Qp:Qs- pulmonary to systemic blood flow

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Surgical Management (ASD)Surgical Management (ASD)

Direct suture closure or pericardial patch.Direct suture closure or pericardial patch. If present, partial anomalous pulmonary veins are If present, partial anomalous pulmonary veins are

re-routed to the left atrium.re-routed to the left atrium. Surgical risk is very low (<1% mortality). Closure Surgical risk is very low (<1% mortality). Closure

is highly recommended in pre-school or pre-is highly recommended in pre-school or pre-adolescent years.adolescent years.

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Pulmonic Stenosis Pulmonic Stenosis Pathology: “Dome shaped” stenosis of the Pathology: “Dome shaped” stenosis of the

PV most common form. RV develops PV most common form. RV develops concentric hypertrophy and reflects degree concentric hypertrophy and reflects degree of obstruction at the valvular level.of obstruction at the valvular level.

Can be associated with other congenital Can be associated with other congenital defects such as VSD (see Tetralogy of defects such as VSD (see Tetralogy of Fallot, below).Fallot, below).

Pulmonic StenosisPulmonic Stenosis

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Abnormal Physiology (PS)Abnormal Physiology (PS)

PV area must be reduced by 60% or more to be PV area must be reduced by 60% or more to be hemodynamically significant.hemodynamically significant.– Peak systolic gradient > 40mmHg - moderate PSPeak systolic gradient > 40mmHg - moderate PS– Peak systolic gradient > 75mmHg -severe PSPeak systolic gradient > 75mmHg -severe PS

Major hemodynamic burden is Major hemodynamic burden is Rt ventricular Rt ventricular pressure overload. pressure overload. Expected ECG finding?Expected ECG finding?

RV failure occurs with severe obstruction, RV failure occurs with severe obstruction, resulting in decreased CO and related Sx and resulting in decreased CO and related Sx and signs.signs.

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Clinical Manifestations (PS)Clinical Manifestations (PS) Occurs 10% all congenital lesions; most infants Occurs 10% all congenital lesions; most infants

and children asymptomatic unless obstruction is and children asymptomatic unless obstruction is severe- DOE, fatigue.severe- DOE, fatigue.

Physical examPhysical exam::– Systolic thrill-suprasternal notch; prominent RV Systolic thrill-suprasternal notch; prominent RV

impulse upper LSB.impulse upper LSB.– Early systolic clickEarly systolic click upper LSB.upper LSB.– Murmur is Murmur is loudloud (Gr 3-4), (Gr 3-4), harsh, crescendo-harsh, crescendo-

decrescendo at upper LSB radiating towards decrescendo at upper LSB radiating towards clavicalclavical and louder with inspiration. Duration of and louder with inspiration. Duration of murmur correlates with severity of obstruction.murmur correlates with severity of obstruction.

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Investigative Findings (PS)Investigative Findings (PS)

CxR-usually normalCxR-usually normal ECG- Mild - normal; severe- RVHECG- Mild - normal; severe- RVH Echo/Doppler - Identifies obstruction; Echo/Doppler - Identifies obstruction;

estimates severity of PS.estimates severity of PS. Cath- usually not needed to make diagnosis but Cath- usually not needed to make diagnosis but

performed for treatment purposes:performed for treatment purposes:– Baloon valvuloplasty opens stenotic valve.Baloon valvuloplasty opens stenotic valve.

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Natural History/PrognosisNatural History/Prognosis

Mild to moderate stenosis - well tolerated; Mild to moderate stenosis - well tolerated; frequent follow up and echo/doppler necessary as frequent follow up and echo/doppler necessary as progressive PS may develop over time.progressive PS may develop over time.

Severe stenosis - poor prognosis without Severe stenosis - poor prognosis without intervention; RV failure develops with premature intervention; RV failure develops with premature death in adults.death in adults.

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Management of PSManagement of PS

Infants with severe PS - valvuloplasty.Infants with severe PS - valvuloplasty. In children and adults timing of valvuloplasty In children and adults timing of valvuloplasty

dependent on gradient:dependent on gradient:No intervention for gradient < 25mm.No intervention for gradient < 25mm.Valvuloplasty always indicated for gradient Valvuloplasty always indicated for gradient >75mm.>75mm.

Ballon valvuloplasty has Ballon valvuloplasty has replaced replaced surgery as a surgery as a first approach.first approach.

PS: Balloon ValvuloplastyPS: Balloon Valvuloplasty

Patent Ductus ArteriosusPatent Ductus Arteriosus

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Patent Ductus Arteriosus (PDA)Patent Ductus Arteriosus (PDA)

Persistent patency of the vessel that normally Persistent patency of the vessel that normally connects the pulmonary arterial system and the connects the pulmonary arterial system and the aorta in the fetus.aorta in the fetus.

PDA normally closes within 2-3 days after birth. PDA normally closes within 2-3 days after birth. It runs from the origin of the LPA to the lower It runs from the origin of the LPA to the lower aortic arch just beyond the left subclavian artery.aortic arch just beyond the left subclavian artery.– Ductus often remains open in pre-term deliveriesDuctus often remains open in pre-term deliveries..– Important to differentiate from post-term PDAImportant to differentiate from post-term PDA

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Abnormal Physiology (PDA)Abnormal Physiology (PDA)

Small ductus- high resistance to flow; well Small ductus- high resistance to flow; well tolerated; small left to right shunt.tolerated; small left to right shunt.

Moderate ductus- Moderate ductus- elevated PAPelevated PAP, , significant significant shuntingshunting..

Large ductus- Ao and PA in free Large ductus- Ao and PA in free communication; equal pressures with communication; equal pressures with marked left to right shuntingmarked left to right shunting, pulmonary , pulmonary congestion, congestion, LV dysfunction and failureLV dysfunction and failure, , and development of PVOD.and development of PVOD.

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Clinical Manifestations (PDA)Clinical Manifestations (PDA)

History- maternal exposure to rubella; History- maternal exposure to rubella; premature premature deliveriesdeliveries..

Symptoms –variable; with large shunt, HF develops in Symptoms –variable; with large shunt, HF develops in first weeks of life.first weeks of life.

PE - Systolic thrill over PA in suprasternal notch and PE - Systolic thrill over PA in suprasternal notch and LSB; apical and RV impulse increased.LSB; apical and RV impulse increased.Murmur is a continuous Murmur is a continuous (through systole and diastole) (through systole and diastole) “machinery murmur” Gr IV or louder at LSB (3rd and “machinery murmur” Gr IV or louder at LSB (3rd and 4th ICS) and below clavicle-peaks near S2.4th ICS) and below clavicle-peaks near S2.

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Additional FindingsAdditional Findings

Dependent on size of ductus/degree of shunting:Dependent on size of ductus/degree of shunting:– CxR- increased LA, LV, pulmonary vascularity (shunt CxR- increased LA, LV, pulmonary vascularity (shunt

vascularity).vascularity).– ECG: LAE/LAA* and LVH.ECG: LAE/LAA* and LVH.– Echo-dopplerEcho-doppler - LAE, LVE and LVH; shunt may be - LAE, LVE and LVH; shunt may be

visualized by 2D echo/doppler.visualized by 2D echo/doppler.– Cardiac MRI and CT also useful in identifying PDACardiac MRI and CT also useful in identifying PDA

*LAA- left atrial abnormality

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Natural History/Management Natural History/Management

Complications include endocarditis, HF, PAH, Complications include endocarditis, HF, PAH, PVOD, and sudden death.PVOD, and sudden death.

Ultimate goal - Ultimate goal - closure of the ductusclosure of the ductus..In In premature infantspremature infants treatment with treatment with IndomethacinIndomethacin is 1st line therapy is 1st line therapyconstriction of constriction of ductus.ductus.

Surgical or catheter closure are safe and effective Surgical or catheter closure are safe and effective when ductus remains open.when ductus remains open.

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Coarctation of the AortaCoarctation of the Aorta

8-9 % of all infants presenting with CHD.8-9 % of all infants presenting with CHD. Discreet narrowing of the distal segment of the Discreet narrowing of the distal segment of the

aortic arch, just distal to the origin of the aortic arch, just distal to the origin of the subclavian artery.subclavian artery.

Coarctation causes obstruction to outflow to the Coarctation causes obstruction to outflow to the lower half of the body. Principle cardiovascular lower half of the body. Principle cardiovascular abnormalities: abnormalities: – LVH due to pressure overload LVH due to pressure overload – Arterial hypertensionArterial hypertension

Coarctation of the AortaCoarctation of the Aorta

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Abnormal Physiology (Coarct)Abnormal Physiology (Coarct)

Systolic and diastolic pressures above the Systolic and diastolic pressures above the coarctation are elevated; below reduced.coarctation are elevated; below reduced.– A A secondary form of HTNsecondary form of HTN

Prominent collateral circulation to the lower body Prominent collateral circulation to the lower body develops via the internal mammary and subcostal develops via the internal mammary and subcostal arteries (rib notching on CxR).arteries (rib notching on CxR).

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Clinical ManifestationsClinical Manifestations 50% present as infants with HF. 50% present as infants with HF.

Concomitant VSD often present.Concomitant VSD often present. In older children Sx include fatigue, In older children Sx include fatigue,

dyspnea and claudication in legs while dyspnea and claudication in legs while running.running.

Hypertension in childhoodHypertension in childhood is a red flag for is a red flag for secondary hypertension.secondary hypertension.– Consider also: Renal artery stenosis Consider also: Renal artery stenosis

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Clinical ManifestationsClinical Manifestations PE: In older children and adults- differential PE: In older children and adults- differential

blood pressure between arms and legs; a blood pressure between arms and legs; a measured difference > 10mmHg systolic is measured difference > 10mmHg systolic is diagnostic.diagnostic.

Majority of patients will develop marked Majority of patients will develop marked HTN to upper part of body -high renin HTN HTN to upper part of body -high renin HTN due to decreased perfusion of kidneys.due to decreased perfusion of kidneys.

Upper body well developed; legs very thin.Upper body well developed; legs very thin.

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Additional FindingsAdditional Findings

CxR: LV prominent; HF-infants; notching of CxR: LV prominent; HF-infants; notching of inferior margins of ribs in adolesence.inferior margins of ribs in adolesence.

ECG: ECG: LVH.LVH. Echo-doppler: Suprasternal imaging may show Echo-doppler: Suprasternal imaging may show

the coarct; LVH, LV dysfunction.the coarct; LVH, LV dysfunction.– Cardiac MRI and CT also useful for coarctationCardiac MRI and CT also useful for coarctation

Cardiac cath: Pressure differential across the Cardiac cath: Pressure differential across the coarct with angiographic visualization and any coarct with angiographic visualization and any associated lesions defined.associated lesions defined.

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Natural Hx and ProgressionNatural Hx and Progression 50% of infants will present with HF and respond well 50% of infants will present with HF and respond well

to medical treatment.to medical treatment. Hypertension develops with age and Hypertension develops with age and often persists if often persists if

surgical correction is performed after age 6. surgical correction is performed after age 6. Significant coarcts, if uncorrected, result in premature Significant coarcts, if uncorrected, result in premature death, often by age 50.death, often by age 50.

Surgery: Surgery: Direct resection/repairDirect resection/repair if possible; adequate if possible; adequate collaterals crucial for safe repair- if absent, lower body collaterals crucial for safe repair- if absent, lower body paralysis can occur due to interrupted blood flow to paralysis can occur due to interrupted blood flow to spinal cord during surgery. Stenting via catheters is spinal cord during surgery. Stenting via catheters is being investigated/used as an option.being investigated/used as an option.

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Tetralogy of FallotTetralogy of Fallot

8-10% of all congenital defects- complex lesion8-10% of all congenital defects- complex lesion Biventricular origin of the AortaBiventricular origin of the Aorta Large VSDLarge VSD Obstruction to pulmonary blood flowObstruction to pulmonary blood flow RVHRVH

Tetralogy of FallotTetralogy of Fallot

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Movie: “SomethingThe Lord Made” detailsthe first heart surgery done in the US for TOF.

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Sudden Cardiac Death in the YoungSudden Cardiac Death in the Young

Overall incidence low: 600 cases/yr.Overall incidence low: 600 cases/yr. Structural cardiac abnormalities in 90%.Structural cardiac abnormalities in 90%. 40% occur in children with surgically treated 40% occur in children with surgically treated

CHD.CHD. Majority of SD in the young presents as the 1st Majority of SD in the young presents as the 1st

manifestation of cardiac disease in otherwise manifestation of cardiac disease in otherwise healthy appearing individuals.healthy appearing individuals.

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Etiologies - SCD in the YoungEtiologies - SCD in the Young Myocarditis (unrecognized)Myocarditis (unrecognized) Hypertrophic CardiomyopathyHypertrophic Cardiomyopathy Congenital Coronary AnomaliesCongenital Coronary Anomalies Coronary Artery Disease (CAD)Coronary Artery Disease (CAD) Conduction system abnormalities- Brugada Conduction system abnormalities- Brugada

syndrome, others.syndrome, others. Mitral Valve Prolapse- very rareMitral Valve Prolapse- very rare Aortic dissection or rupture: often associated with Aortic dissection or rupture: often associated with

connective tissue abnormalities (Marfan’s connective tissue abnormalities (Marfan’s syndrome), “Marfanoid” body habitus.syndrome), “Marfanoid” body habitus.

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SCD in Competitive AthletesSCD in Competitive Athletes

Extremely rare; 25/yr. in USAExtremely rare; 25/yr. in USA Hypertrophic Cardiomyopathy most common Hypertrophic Cardiomyopathy most common

cause in athletes <35 yrs.cause in athletes <35 yrs. Congenital coronary anomaliesCongenital coronary anomalies Aortic rupture associated with Aortic rupture associated with Marfan’sMarfan’s and and

other connective tissue diseases.other connective tissue diseases. CHD present in < 10%CHD present in < 10%

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Screening and PreventionScreening and Prevention Because myocarditis is often Because myocarditis is often silentsilent, and associated , and associated

with common viruses, strenuous physical exertion with common viruses, strenuous physical exertion and athletic competition should be avoided in and athletic competition should be avoided in individuals with symptomatic viral symptoms or individuals with symptomatic viral symptoms or who are febrile.who are febrile.

Detailed histories must be obtained during sports Detailed histories must be obtained during sports physicals- physicals- family history of sudden deathfamily history of sudden death; history ; history of chest pain, dizzyness, of chest pain, dizzyness, syncopesyncope or dyspnea; or dyspnea; presence of any cardiac risk factors.presence of any cardiac risk factors.

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A thorough exam should include observation for A thorough exam should include observation for connective tissue abnormalities, body habitus, connective tissue abnormalities, body habitus, pectus deformity, etc.pectus deformity, etc.

Cardiac exam should include Cardiac exam should include thorough thorough evaluation of murmursevaluation of murmurs including provocative including provocative maneuvers.maneuvers.

ECG’sECG’s and and Echocardiography/Doppler should Echocardiography/Doppler should be obtained when structural cardiac pathology be obtained when structural cardiac pathology is suspected. is suspected. Could make a difference between Could make a difference between life and death.life and death.