2Incidence and Etiology Incidence of 1% in general population.VSD is most common CHDTOF is most common cyanotic CHDTGA is most common cyanotic CHD presenting in infancyEtiology: Multifactorial inheritance 90%.Chromosomal 5%Single mutant gene 3%Environmental 2%
4CHD in Chromosomal Aberrations Incidence Most common lesionTrisomy 21 50% VSD or A-V canalTrisomy % VSDTrisomy 13 90% VSDXO Turner 35% CoA
5CHD in Single Mutant Gene Syndromes Marfan’s Aortic aneurysmNoonan’s PS, ASDWilliams’ Supravalvular ASHolt-Oram ASD, VSDNF PS, CoA
6Teratogens and CHD Frequency Most common Alcohol 25-30% VSD Phenytoin 2-3% PS,AS,CoA,PDALithium 10% EbsteinRubella 35% PPS, PDADiabetes 3-5% Hypertrophic septumTGA, VSD, CoA(Incidence can be as high as 30-50% in poorlycontrolled DM)Lupus 50% 3rd degree heart blockPKU % TOF, VSD, ASD
7Presentations Asymptomatic (heart murmur) Small VSD, ASD Cyanosis D-TGA, TOFCongestive heart failure Large L-R shuntlesionsSyncope AS, PSShock Coarc, hypoplasticleft heart
8Birth 2w 8w 4m 1y 3-5y Adolescence VSD ASD| PDA CoA AS HLHS TOF TriA/SPA TGA TA TAPVRCHFP. HTNP. HTNCHFOften asymptomaticShockCHF/HTNShockCHFCHF/syncope/murmurShockCyanosisCHFShock/CyanosisShock/CyanosisCyanosisHLHS=Hypoplastic left heart syndromeTriA/S=Tricuspid atresiaCHF=Congestive heart failureP.HTN=Pulmonary hypertensionFTT=Failure to thriveCyanosis/CHFShock/Cyanosis
9Cyanotic CHD 1. Truncus Arteriosus 2. Transposition of the Great Arteries3. Tricuspid Atresia4. Tetralogy of Fallot5. Total Anomalous Pulmonary Venous ReturnCyanosis occurs when blood hemoglobin saturation < 85%
11Cyanotic CHD with Decreased Pulmonary Blood Flow 1. Tetralogy of Fallot2. Tricuspid Atresia3. Total Anomalous Pulmonary Venous Return with obstructionThese lesions must include both an obstruction to pulmonary blood flow (at the tricuspid valve or right ventricular or pulmonary valve level) and a pathway by which systemic venous blood can shunt from right to left and enter the systemic circulation (via a patent foramen ovale, atrial septal defect, or VSD). In these lesions, the degree of cyanosis depends on the degree of obstruction to the pulmonary blood flow. If the obstruction is mild, cyanosis may be absent at rest. These patients may acquire hypercyanotic (“tet”) spells during conditions of stress. In contrast, if the obstruction is severe, pulmonary blood flow may be dependent on the patency of the ductusarteriosus. When the ductus closes during the 1st few days of life, the neonate presents with profound hypoxemia and shock.
12Cyanotic CHD with Increased Pulmonary Blood Flow 1. Transposition of the Great Arteries2. Truncus Arteriosus3. Total Anomalous Venous Return withoutobstruction
17Cyanotic CHD with Decreased Pulmonary Blood Flow 1. Tetralogy of Fallot2. Tricuspid Atresia
18Tetralogy of Fallot 1. VSD 2. Pulmonary artery stenosis 3. Overriding aorta4. Right ventricular hypertrophy
19Tetralogy of Fallot Incidence of total CHD Age at presentation ClinicalAuscultationMost common cyanotic CHDUsually by 6 monthsCyanosisCyanotic spells (squatting)Harsh systolic murmurSofter if worsening obstruction
21TOF treatment 1. For cyanotic spells: Knee-chest position Morphine sulfateVasoconstrictorsPropranolol2. Iron for anemia3. Surgicala. Palliation Blalock-TaussigWaterston shuntPott’s operationb. Corrective at 1-5 years of age
25Tricuspid Atresia Types 1. Normally related great arteries (69%) With small VSD and PS (most common).Intact septum with pulmonary atresiaLarge VSD without PS2. D-transposition of great arteries (28%)3. L-transposition of great arteries (4%)
26Tricuspid Atresia Incidence: Rare Age at presentation ClinicalNo obstruction pulmonary blood flowObstruction pulmonary blood flowRareInfancy, depending on pulmonary blood flowCongestive heart failure Similar to VSD CyanosisVariable More intense cyanosis as ductus closes
27Tricuspid Atresia Auscultation: Systolic murmur with single S2 Radiology: Variable Decreased pulmonary vasculature
28Treatment Tricuspid Atresia 1. PGE1 to keep ductus open2. Balloon septostomy if no VSD3. Surgicala. Palliationsystemic-pulmonary shunt (PS)pulmonary artery banding (large VSD)b. CorrectiveFontan
30Cyanotic CHD with Increased Pulmonary Blood Flow 1. Truncus Arteriosus2. Transposition of the Great Arteries3. Total Anomalous Pulmonary Venous Return
31Truncus Arteriosus Incidence Rare Age at presentation Neonatal ClinicalAuscultationPulmonary vasculatureEKGRareNeonatalCyanosisSigns of CHFWide pule pressure and bounding arterial pulsesHarsh systolic murmurIncreasedBVH or RVH
35Transposition of the Great Vessels D-type D-transposition, complete transposition, mostcommon form-Aorta arises from the right ventricle.-Pulmonary artery arises from the left ventricle.-PDA is the only connection between systemic and pulmonary circulations, although VSD in 40%.
36Transposition of the Great Vessels L-type L-transposition, also called corrected transposition-Both ventricles and great vessels aretransposed
37D-TGA Incidence Age presentation Clinical Auscultation Radiology EKG 8% of all CHDMale:female 2:1Newborn, when ductus closesCyanosis within 1st 48 hrs if no VSDCHF when large left to right shuntsLoud single S2, no murmurEgg-on-a-string heartIncreased pulmonary vasculature, depending on size shuntRVH
38Treatment for D-TGA 1. Prostaglandin E 2. Surgical a. Atrial septostomy if no VSD (Rashkind,Blalock - Hanlon etc.)b. Anatomical correction (Jatene’s operation)
41TAPVR types 1. Supracardiac emptying in the left vertical vein (most common type 80-90%) which subsequently drains into the SVC2. Cardiac emptying into the coronary sinusor right atrium3.Infradiaphragmatic emptying into verticalvein that descends through diaphragm intoportal vein and or IVC
42TAPVR Incidence Age at presentation Clinical findings EKG Radiology 2% NewbornRapid cyanosis in the infra-diaphragmatic typeNon-obstructive similar to ASD plus mild cyanosisRVH“Snowman” configurationDiffuse reticular opacitiesLooks like HMD without air bronchograms!
43TAPVR Associations Treatment Polysplenia Asplenia (3/4 patients also TAPVR)Surgical ligation of anomalous vein
46Acyanotic CHD with Increased Pulmonary Blood Flow (left to right shunt lesions) 1. ASD2. VSD3. PDA
47ASD Incidence Types Age presentation Clinical Auscultation EKG Treatment10% CHDOstium secundum (most common)Sinus venosus defectOstium primum (AV canal)VariesMostly asymptomaticSlender body buildWidely split and fixed S2! + SEMRAD and RVHNo SBE coverage needed!Surgery for large shuntsThe paucity of symptoms in infants with ASDs is related to the structure of the right ventricle in early life when its muscular wall is thick and less compliant, thus limiting the left-to-right shunt.The SEM is produced by the increased flow across the right ventricular outflow tract into the pulmonary artery, not by low-pressure flow across the ASD.
51VSD Incidence Most common CHD (20%) Coexists with other lesions in 5% TypesAge presentationMost common CHD (20%)Coexists with other lesions in 5%Membranous (80%)Muscular (10%)Large - at age 2-3 months with congestive failureSmall to moderate - usually asymptomatic
52VSD Congestive heart failure if large Clinical Poor weight gain Systolic thrill with holosystolic murmur at LLSBDiastolic murmur with large shunts and loud P2 with pulmonary hypertensionDiastolic rumble at apex indicates CHFClinicalAuscultation
53VSD EKG 1. normal if small VSD 2. LAE-LVH if moderate RadiologyAssociationsComplications1. normal if small VSD2. LAE-LVH if moderate3. LAE-BVH if large4. RVH-PVODIncreased vascularity with larger shunts and enlargement cardiac sizeHolt-Oram syndrome, Down’s, Trisomy 13, Trisomy 18Eisenmenger’s Syndrome (shunt reverses to rightleft)
54Treatment VSD 1. Spontaneous closure of small VSD’s 2. Medical therapy (diuretics, digitalis)3. Pulmonary artery banding4. Surgical placement of patch over VSD5. SBE prophylaxisA significant number (30-50%) of small defects close spontaneously, most frequently during the 1st 2 years of life. Small muscular VSDs are more likely to clse than membranous VSDs. The vast majority of defects that close do so before age 4 yr. An isolated, small, hemodynamically insignificant VSD is not an indication for surgery currently. These patients do require SBE prophylaxis.In infants with a large VS, medical management has two aims: to control heart failure and to prevent the development of pulmonary vascular disease. Because surgical closure can be carried out at low risk in most infants, medical management should not be pursued in symptomatic infants after an initial unsuccessful trial. Pulmonary vascular disease can be prevented when surgery is performed within the 1st year of life.
57PDA Clinical Premature infants - Congestive heart failure Term infants - usually asymp murmurPulm. Vasculature IncreasedRadiology Dependent on size of shuntLeft atrial enlargement often presentMassive bulge at left upper mediastinum inlarge shuntsTreatment Premature infants - IndomethacinLigation and division of the ductusProstaglandin E infusion maintains ductalpatency when needed
60Acyanotic CHD with Pulmonary Venous Congestion or Normal Blood Flow (Pressure Load)1. Coarctation Aorta2. Aortic Stenosis3. Hypoplastic Left Heart4. Pulmonary Stenosis
61Coarctation of the Aorta Incidence: 5% of CHDClinical: Preductal or infantile type presents inyoung child with CHF and LE pulsesAdult type presents with hypertension and difference in arm and leg pulsesRadiology: Rib notching - starts age 6-8Associations : Often isolatedTurner’s, NF, William’s, Sturge-WeberTreatment: Primary repairProstaglandin E to infants
65Aortic Stenosis Clinical: Most asymptomatic Angina Syncope - may be fatalPulm. Vasc.: NormalAssociations: Williams’ SyndromeTreatment: MedicalSurgicalNo high impact sports
66Hypoplastic Left Heart Incidence: 8% of all CHD, most common cause forearly cardiac deathAge at present.: Immediately at birth or first weeksClinical: 1st presentation is usually not cyanosis,but signs of shockPulm. Vasc.: IncreasedRadiology: Large cardiac silhouetteTreatment: Prostaglandin ENorwood procedure (high mortality)
68Mitral Valve Prolapse Facts More common in girls May be inherited as autosomal dominant trait withvariable expression Common in Marfan’s Dominant signs are ausculatory; late systolicapical murmur preceded by a click PVC’s may be a complication Non progressive in children Endocarditis prophylaxis indicated only insubstantiated cases, usually those with mitralinsufficiencies
69Blalock-Taussig shunt. The subclavian artery is transected and anastomosed in a end-to-side fashion to the ipsilateralpulmonary artery. Usually the subclavian artery oppositeto the arch is used.
70The Modified Blalock-Taussig shunt now uses a Goretex graft (green) to connect the subclavian artery to thepulmonary artery. This preserves the subclavian artery.
71Potts shunt is where a side-to-side anastomosis is made between the descending aorta and the pulmonary artery.
72The Waterston-Cooley shunt is similar to the Potts shunt. A side to side anastomosis or window is created between the pulmonary arteryand the ascending aorta. The difference is that it is the ascendingaorta (Waterston-Cooley) rather than the descending aorta which isanastomosed to the pulmonary artery (Potts).
75Pearls Bounding pulses; think PDA or AV fistula. Widely fixed split second heart tone; think ASD.No pre- and postductal saturation differenceswhen there is total mixing of deoxygenated venous blood with oxygenated pulmonary blood in the heart; such as -total anomalous pulmonary venous return truncus arteriosus
76Pearls Pre- and post-ductal saturation differences post-ductal saturation is higher in TGAall other congenital heart anomalies without total mixing in the heart have a lower post-ductal saturation