Congenital Heart Disease

Congenital i l Heart Disease Incidence and Etiology gy Incidence of 1% in general population. VSD is most common CHD TOF is most common cyanotic CHD...
Author: Brendan Greene
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Congenital i l Heart Disease

Incidence and Etiology gy Incidence of 1% in general population. VSD is most common CHD TOF is most common cyanotic CHD TGA is most common cyanotic CHD presenting in infancy Etiology: Multifactorial inheritance 90%. Chromosomal 5% Single mutant gene 3% Environmental 2%

Presentations Asymptomatic heart murmer C Cyanosis i Congestive heart failure Syncope Shock

CHD in Chromosomal Aberrations Trisomy 21 Trisomy 18 Trisomy 13 XO Turner

Incidence Most common lesion 50% VSD or A A-V V canal 90+% VSD 90% VSD 35% CoA

CHD in Single g Mutant Gene Syndromes Marfan’s Noonan’ss Noonan Williams’ Holt-Oram Holt Oram NF

Aortic aneurysm PS ASD PS, Supravalvular AS ASD VSD ASD, PS, CoA

Teratogens and CHD Alcohol Phenytoin Lithi m Lithium Rubella Diabetes

Frequency 25 30% 25-30% 2-3% 10% 35% 3 5% 3-5%

Most common VSD PS,AS,CoA,PDA Ebstein PPS, PDA Hypertrophic septum TGA, VSD, CoA

(Incidence can be as high as 30-50% 30 50% in poorly controlled DM)

Lupus PKU

50% 25-50%

3rd degree heart block TOF, VSD, ASD

Presentations Asymptomatic (heart murmur) Cyanosis y Congestive heart failure Syncope Shock

Small VSD, ASD D-TGA,, TOF Large L-R shunt lesions AS, PS yp p Coarc,, hypoplastic left heart

Birth

VSD ASD| PDA CoA AS HLHS TOF TriA/S PA TGA TA TAPVR

2w

8w

4m 1y 3-5y

Adolescence

CHF

P HTN P. P. HTN CHF

Often asymptomatic

CHF/HTN

Shock Shock

CHF

CHF/syncope/murmur

Shock Cyanosis

CHF

Shock/Cyanosis Shock/Cyanosis C Cyanosis i

HLHS=Hypoplastic left heart syndrome

Cyanosis/CHF

TriA/S=Tricuspid atresia

Shock/Cyanosis y

CHF=Congestive heart failure P.HTN=Pulmonary hypertension FTT=Failure to thrive

Cyanotic CHD 1. Truncus Arteriosus 2 Transposition 2. T iti off the th Great G t Arteries At i 3. Tricuspid p Atresia 4. Tetralogy of Fallot 5. Total Anomalous Pulmonary Venous Return

A Acyanotic i CHD 1. VSD 2 ASD 2. 3. PDA 4 C 4. Coarctation t ti Aorta A t 5. Aortic Stenosis 6 H 6. Hypoplastic l ti Left L ft Heart H t

Cyanotic C ti CHD with ith D Decreased d Pulmonary y Blood Flow 11. Tetralogy of Fallot 2. Tricuspid Atresia 3 Total 3. T t l Anomalous A l Pulmonary P l Venous V Return with obstruction

Cyanotic C ti CHD with ith IIncreased d Pulmonary y Blood Flow 11. Transposition of the Great Arteries 2. Truncus Arteriosus 3 Total 3. T t l Anomalous A l V Venous R Return t without ith t obstruction

Acyanotic CHD with Increased Pulmonary Blood Flow (Volume Load) 11. ASD 2. VSD 3 PDA 3.

Acyanotic CHD with Pulmonary Venous Congestion or Normal Bl d Fl Blood Flow (Pressure (P Load) L d) 1. 2 2. 3. 4.

Coarctation Aorta Aortic Stenosis Hypoplastic Left Heart Pulmonary l Stenosis i

Circulation before birth

Circulation after birth

Cyanotic CHD with Decreased Pulmonary Blood Flow 1. Tetralogy of Fallot 2. Tricuspid Atresia

Tetralogy of Fallot 1. 1 2. 3 3. 4.

VSD Pulmonary artery stenosis Overriding aorta Right ventricular hypertrophy

Tetralogy of Fallot • Incidence of total CHD • Age at presentation • Clinical • Auscultation

• • • • • •

Most common cyanotic CHD Usually by 6 months Cyanosis Cyanotic spells (squatting) Harsh systolic murmur Softer if worsening obstruction

Tetralogy of Fallot • Radiology

• EKG

• • • •

Decreased pulmonary vascularity Boot-shaped Boot shaped heart R-sided aortic arch RAD RAE RAD, RAE, RVH

TOF treatment 1. For cyanotic spells:

Knee-chest position Morphine sulfate Vasoconstrictors Propranolol

2. Iron for anemia 3 Surgical 3. a. Palliation Blalock-Taussig Waterston shunt Pott’s operation b Corrective at 1-5 years of age b.

Tetralogy of Fallot

Tetralogy of Fallot

Tricuspid Atresia Types 1. Normally related great arteries (69%) With small VSD and PS (most common). Intact septum with pulmonary atresia Large VSD without PS 2. D-transposition of great arteries (28%) 3. L-transposition of great arteries (4%)

Tricuspid Atresia • Incidence: • Age g at presentation p • Clinical – No obstruction pulmonary bl d flow blood fl – Obstruction pulmonary blood flow

• Rare • Infancy, depending on pulmonary blood flow • Congestive heart failure Similar to VSD C Cyanosis i • Variable More intense cyanosis as ductus closes

Tricuspid p Atresia • Auscultation: • Radiology:

Systolic y murmur with single g S2 Variable Decreased pulmonary vasculature

Treatment Tricuspid Atresia 11. PGE1 to keep ductus open 2. Balloon septostomy if no VSD 3 Surgical 3. a. Palliation systemic pulmonary shunt (PS) systemic-pulmonary pulmonary artery banding (large VSD) b Corrective b. Fontan

Cyanotic y CHD with Increased Pulmonary Blood Flow 1. Truncus Arteriosus 2. Transposition of the Great Arteries 3. Total Anomalous Pulmonary Venous Return

Truncus Arteriosus • Incidence • Age at presentation • Clinical

• • • • •

Rare Neonatal Cyanosis Signs of CHF Wide pule pressure and bounding arterial pulses • Harsh systolic murmur • Auscultation • Pulmonary vasculature • Increased • BVH or RVH • EKG

Truncus Arteriosus • Associations

• Treatment

• Right sided aortic arch y aplasia p - DiGeorge g • Thymic Syndrome • Medical • Pulmonary artery bending p • Rastelli’s operation

Truncus Arteriosus

Transposition of the Great Vessels D-type D type D transposition, complete transposition, most D-transposition, common form o ta arises a ses from o the t e right g t ventricle. ve t c e. -Aorta -Pulmonary artery arises from the left ve c e. ventricle. -PDA is the only connection between y and ppulmonaryy circulations,, systemic although VSD in 40%.

Transposition of the Great Vessels L-type L-transposition, also called corrected transposition -Both ventricles and great vessels are transposed

D-TGA • Incidence • • • •

• • Age presentation • Clinical • • A Auscultation lt ti • Radiology • •

• EKG

8% of all CHD Male:female 2:1 Newborn, when ductus closes Cyanosis within 1st 48 hrs if no VSD CHF when large left to right shunts L d single Loud i l S2, S2 no murmur Egg-on-a-string heart I Increased d pulmonary l vasculature, l depending on size shunt • RVH

T t Treatment t for f D-TGA D TGA 11. P Prostaglandin t l di E 2. Surgical a. Atrial At i l septostomy t t if no VSD (Rashkind, (R hki d Blalock - Hanlon etc.) b Anatomical b. A t i l correction ti (Jatene’s (J t ’ operation) ti )

TGA

TAPVR types 1. Supracardiac emptying in the left vertical vein (most common type 80-90%) which subsequently subseque t y ddrains a s into to tthee SVC 2.. Cardiac C d c emptying e p y g intoo thee coronary co o y sinus s us or right atrium 3.Infradiaphragmatic emptying into vertical vein that descends through g diaphragm p g into portal vein and or IVC

TAPVR • Incidence • Age A at presentation i • Clinical findings

• EKG • Radiology

• 2% • Newborn b • Rapid cyanosis in the infradi h diaphragmatic ti type t • Non-obstructive similar to ASD plus mild cyanosis • RVH • “Snowman” “S ” configuration fi ti • Diffuse reticular opacities • Looks like HMD without air bronchograms!

TAPVR • Associations • Polysplenia p (3/4 ( patients p also TAPVR)) • Asplenia • Treatment • Surgical ligation of anomalous vein

Total anomalous venous return

Acyanotic CHD with Increased Pulmonary Blood Flow (left to right shunt lesions) 1. ASD 2. VSD 3. PDA

ASD • Incidence • Types

• • • • •

• • • • Age presentation • Clinical • • Auscultation • • EKG Treatment • •

10% CHD Ostium secundum (most common) Sinus venosus defect Ostium primum (AV canal) Varies Mostly asymptomatic Slender body build Widely split and fixed S2! + SEM RAD and RVH No SBE coverage g needed! Surgery for large shunts

ASD

VSD • Incidence

• • • Types • • • Age presentation •

Most common CHD (20%) Coe ists with Coexists ith other lesions in 5% Membranous (80%) M Muscular l (10%) Large - at age 2-3 months with congestive ti failure f il • Small to moderate - usually asymptomatic

VSD • Clinical • Auscultation

• Congestive heart failure if large • Poor weight eight gain • Systolic thrill with holosystolic murmur at LLSB • Diastolic murmur with large shunts and loud P2 with pulmonary hypertension • Diastolic rumble at apex indicates CHF

VSD • EKG

• Radiology • Associations • Complications

• • • • •

1. normal if small VSD 2. LAE-LVH LAE LVH if moderate 3. LAE-BVH if large 4 RVH 4. RVH-PVOD PVOD Increased vascularity with larger shunts and enlargement cardiac size • Holt-Oram syndrome, Down’s, Trisomyy 13,, Trisomyy 18 • Eisenmenger’s Syndrome (shunt g ) reverses to rightleft)

Treatment VSD 11. Spontaneous closure of small VSD’s VSD s 2. Medical therapy (diuretics, digitalis) 3 Pulmonary artery banding 3. 4. Surgical placement of patch over VSD 5 SBE prophylaxis 5.

VSD

PDA Clinical

Premature infants - Congestive heart failure Term infants - usually asymp murmur Pulm. Vasculature Increased Radiology Dependent on size of shunt Left atrial enlargement often present Massive bulge at left upper mediastinum in large shunts T t Treatment t P Premature t infants i f t - Indomethacin I d th i Ligation and division of the ductus Prostaglandin E infusion maintains ductal patency when needed

PDA

Acyanotic CHD with Pulmonary Venous Congestion or Normal Bl d Fl Blood Flow (Pressure (P Load) L d) 1. 2 2. 3. 4.

Coarctation Aorta Aortic Stenosis Hypoplastic Left Heart Pulmonary l Stenosis i

Coarctation of the Aorta IIncidence: id Clinical:

Radiology: Associations: Treatment:

5% off CHD Preductal or infantile type presents in young child with CHF and  LE pulses Adult type presents with hypertension and difference in arm and legg pulses p Rib notching - starts age 6-8 Often isolated T Turner’s, ’ NF, NF William’s, Willi ’ Sturge-Weber S Wb Primary repair Prostaglandin E to infants

Rib notching

Aortic Stenosis Clinical:

Pulm. Vasc Pulm Vasc.:: Associations: Treatment:

Most asymptomatic Angina Syncope - may be fatal Normal Williams’ Syndrome Medical Surgical No high impact sports

Hypoplastic Left Heart Incidence: Age g at present.: p Clinical: Pulm. Vasc.: Radiology: Treatment:

8% of all CHD, CHD most common cause for early cardiac death Immediatelyy at birth or first weeks 1st presentation is usually not cyanosis, but signs of shock Increased Large cardiac silhouette Prostaglandin E Norwood procedure (high mortality)

Mitral Valve Prolapse p Facts More common in girls  May be inherited as autosomal dominant trait with variable expression  Common in Marfan Marfan’ss  Dominant signs are ausculatory; late systolic apical murmur preceded by a click  PVC’s may be a complication  Non pprogressive g in children  Endocarditis prophylaxis indicated only in substantiated cases, usually those with mitral insufficiencies

Blalock-Taussig shunt. The subclavian artery is transected and d anastomosed t d iin a end-to-side d t id ffashion hi tto th the iipsilateral il t l pulmonary artery. Usually the subclavian artery opposite to the arch is used. used

The Modified Blalock-Taussig shunt now uses a Goretex graft (green) to connect the subclavian artery to the pulmonary artery. This preserves the subclavian artery.

Potts shunt is where a side-to-side anastomosis is made between the descending aorta and the pulmonary artery.

The Waterston-Cooley shunt is similar to the Potts shunt. A side to side anastomosis or window is created between the pulmonary artery and the ascending aorta. The difference is that it is the ascending aorta (Waterston-Cooley) rather than the descending aorta which is anastomosed to the pulmonary artery (Potts).

Pearls • Bounding pulses; think PDA or AV fistula. • Widely fixed split second heart tone; think ASD. ASD • No pre- and postductal saturation differences – when h there h iis totall mixing i i off deoxygenated d d venous blood with oxygenated pulmonary blood in the heart; such as -total total anomalous pulmonary venous return -truncus arteriosus

Pearls • Pre- and post-ductal saturation differences – post-ductal saturation is higher in TGA – all other congenital heart anomalies without total mixing in the heart have a lower postductal satu ducta saturation at o