Download - Cardiac Malformations
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CLASSIFICATION OF CARDIAC MALFORMATIONS
Daniel Bernsteins (clinical + physiopathological):
- non cyanotic: - Vol. (with shunt): VSD,ASD, PDA, AVC.
- Pres. (obstruction): Pu.Ste., Ao.Ste., CoAo.
- cyanotic: - Pu. flow (obstr.+shunt) Fallot IV, tric. atresia- Pu. flow transposition GA, single ventric., atr.,
arterial truncus, abnormal pu. venous return.
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ASD ~10% of patients with
congenital heart disease
: = 2 : 1.
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Diagnosis:
Sy. & Signs: - S2 widely split (fixed);
- Gr. I.-III. / 6. ejection systolic murmur at the pulmonary area;
- diastolic flow murmur at the lower left sternal border
X-ray: - cardiac enlargement
- pu. vascular markings
ECG: right axis dev. , V1: rsR
Echo: - paradoxic motion of VS wall
- dilated right ventr. cavity (Mmode)
- direct visualisation: in 2D, shunt: color doppler
Catheterization: - oximetry Sat.O2 in RA
- pressure: N.
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Treatment:
medical (digoxin, diuretics)
surgical (when ratio: pu./syst. blood flow
> 2:1): - transcatheter closure(doubleumbrella device),
- open repair
complication:
- RV dysfunction
- dysrhythmias
- death rate < 1%
Prognosis:
< 2 decades of lifetolerate very well;
>3 decadespu. hypertension, heartfailure;
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VSD
Prevalence
~20 to 25%
Slight
preponderance
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Classifications of subtypes
1. Perimembranous (infracristal) VSDs lie in the left ventricular outflow tract just belowthe aortic valve:perimembranous inlet, perimembranous outlet, or perimembranousmuscular. 80% of defects
2. Supracristal (conal, infundibular, subpulmonary, subarterial, subarterial doublycommitted, outlet) defects comprise 5-8% of isolated VSDs and are associated withaortic regurgitation secondary to the prolapse of the right aortic cusp;
3. Muscular VSDs (trabecular) are bounded entirely by muscular septum and are oftenmultiple "Swiss cheese septum" ; central muscular or midmuscular, apical, or marginalwhen they are along the RV-septal junction - 5-20% of all defects;
4. Posterior (canal-type, endocardial cushiontype, AV septumtype, inlet) VSDs lieposterior to the septal leaflet of the tricuspid valve - it is not associated with defects in
the AV valves. Eight to 10% of VSDs are of this type.
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Sy. & Signs:
Small to moderate sized left-to-right shunt
-Asymptomatic
-Grade II.- III./6 harsh pansyst. murmur
Large left-to right shunt
-Easy fatigability
-Congestive heart failure
-Respiratory distress
-Restlessness
-Hepatomegaly
-Thrill
-Diastolyic flow murmur at the apex when pu./syst. blood
flow > 2:1Very large defect with pulmonary hypertention (bidir. shunt)
-Prominent precordium
-Short ejection syst. murmur
-Syst. arterial O2 desaturation
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X-ray:
- small shunt:normal- large shunt: cardiac
enlargement, pu.
vasculature, main pu.
artery enlargement
ECG: large: LVH
Echo:2D: parasternal long axis, short axis, subcostal; M-
mode: dilatations, hypertrophy, Doppler: location, direction,
magnitude of the shuntCath:- Sat. O2 in RV,
- pressure,
- pu/syst. flow
Angiocardiography: No., size, location of defects.
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Treatment:
medical management: anticongestive measures;
surgical treatment: - palliative procedure: pu. artery banding,
- transcatheter closure,
- closure through RA/tricuspid valve with aDacron patch when Qp/Qs > 1,5:1, Ao regurgitation or increased pu.artery pressure present,
- heartlung transplantation (Eisenmengers
sy.).Courses that patients with VSD may follow:
spontaneus closure: 30% - 50%,
shunts too small to justify repair (asymptomatic),
severe enough to require surgery (elective period: 2-5 years),
defect inoperable because of pulmonary hypertension (prevented bysurgical repair),
development of infundibular pu. stenosis 5% of patients.
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ATRIOVENTRICULAR SEPTAL DEFECT
Incomplete fusion of the
embryonic endocardial cushions.
4% of congenital heart defects
(40% occur in Downs sy.)
Forms: -complete = persistent common AV canal
-incomplete = ost. primum ASD + cleft in the mitral valve
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Clinical Findings: asymptomatic -> congestive heart failure
- single S1, fixed splitting of S2
- systolic murmur (VSD, AV regurgitation) may be inaudible in theneonate
X-ray: cardiac enlargement, pu. vasc. markings;
pu. vascular obstruction => peripheral markings.
ECG: - left axis deviation (-30-90),
- 50% of cases 1st degree heart block,
- LV or/+ RV hypertrophy Echo: determine the location, direction and magnitude of ASD, VSD,
shunt, AV regurgitation,
Catheterization: LV angiogram: goosneck of LV outflow tract.
Treatment : - medical: anticongestive (diuretics, digoxin), prophylaxis forinfective endocarditis,
- surgery: palliative: pu. artery banding,
corrective
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PATENT DUCTUS ARTERIOSUS
Persistent patency of the vessel in thefetus that connects the PA to the Aocloses by 1-4 days of age
12% of cong. heart disease ( 80% ofinfants under 1200g)
: = 2 : 1
common: - maternal rubella in 1-2months of gestation
- high altitude living.
+ CoAo, VSD.
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Symptoms & Signs:
1. Typycal: puls bounding, widened
S2 narrowly split,
continuous machinary murmur: 2nd i.c. space, inf. left clavicle.
2. PDA + Pu. hypertension: S2 ,
right to left shunt => cyanosis, no murmur,the puls is normal,
3. PDA in premature neonate with respiratory distress sy.:soft nonspecific
syst. or no murmur, cardiomegaly + pu. edema. X-ray: large PDA: LA+ LV enlargement, prominent Ao.
ECG : LV or biventricular hypertrophy,
Echo: size,direction, degree of shunt,
enlargement of the LV, LA
Cath. & Angicardiography: O2 sat. at the PA, the catheter passeseasely from the PA to the descending Ao, visualisation of ductus andpu.arteries
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Treatment:
transcatheter closure (occluder device, coil)
ligation and/or division
In preterm infants: Indomethacin, three doses: 0.1-0.3mg/kg / 24h p.o. or parenteral, serum level >250ng/ml
Contraindication: pu/syst resistance ratio >0.7
Course & Prognosis: small shunt: - do quite well without surgery till 3-4th
decade
congestive heart failure
pulmonary vascular occlusive disease
infective endartheritis spontaneous closure till 2 years esp. in prematures
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PULMONARY STENOSIS
Obstruction to outflow from the RV
10% of all cases,
Types: - valvular (90%)
- subvalvular (infundibular)
- supravalvular (mainPA)
- peripheral
Valvular = fusion of the pulmonarycusps,
Symptoms & Signs:
- asymptomatic-> cyanosis,
congestive heart failure- systolic thrill,
- widely split S2,
- systolic ejection click and murmurin the left side 2nd i.c. space
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X-ray: poststenotic dilatation of the main pulmonary artery,
RV enlargement
pu. vascular markings in cyanotic patients.
ECG: RV hypertrophy + RV strain pattern (deep inversion of T wave)
right axis deviation (>+180)
Echo:thickened echodense pulmonary valve,
transvalvular pressure gradient (Doppler)
Catheterization: high RV pressure,
gradient across the pu. valve
usually combined with a balloon valvuloplasty
Tratment:- pulmonary valvotomy (RV pressure > 50mmHg)
- resection, complete excision with valve replasement
- prophylaxis of infective endocarditis
Course & Prognosis: mild stenosis: normal lifesevere obstruction: cyanosis, heart failure,
postoperative follow up = normal life
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COARCTATION OF THE AORTA 6%
: = 1: 3
Types: preductal, infantile
juxtaductal
postductal
Symptoms & Signs:- asympt.->heart failure
- systemic hipertension (upper
extremities)
- lower extremity claudication
with exercise (older)
- systolic ejection click&
murmur at right upper sternal
border
- continuous murmur: collateral
circulation
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X-ray: LV enlargement,
E shape of the oesophagus on barium swallow,
notching or scalloping of the ribs (intercostal collaterals)
ECG:LV hypertrophy
Echo: 2D: direct visualization location, length;LV hypertrophy
Doppler: high peak systolic velocity,
Catheterization: location, pressure gradient, collateral circulation,
Treatment: medical: PgE2 reopen DA in preductal Co
diuretics, digitalis, dopamine,
hypertensive crisis
infective endocarditis prophylaxis
surgical: percutaneous angioplasty
resection with end-to-end anstomoses
Dacron patch
Course & Prognosis: congestive heart failure,hypertensive encephalopathy
renal shutdown
dissecting Ao. aneurysm
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AORTIC STENOSIS
5%
Obstruction to the outflow fromthe LV;
: = 1: 3
Types:1. Valvular (75%) fused cusps,
2.Subaortic stenosis: - discretemembranous subvalvularstenosis (20%); - tunnel;
- fibromuscular ring;
- hypertrophic obstructivecardiomiopathy ;
3. Supravalvular aorticstenosis (Williams sy.);
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Symptoms & Signs:
- asymptomatic -> 3rd-5th decades of life: fatigability,
1. Valvular AS - gradient >80mmHg: small pulses, systolic thrill, aortic type
ejection sound/click, grade III-V/6 rough ejection-type systolic murmur in the 1
st
2nd IC spaces
2. Discrete membranous subvalvular AS: absence of ejection click, systolicmurmur: 3rd and 4th IC spaces
3. Supravalvular AS: often abnorman facies, mentally retarded, difference inpulses and BP between the R and L arms
4. Idiopathic hypertrophic subaortic stenosis: grade II-III syst. ej. murmur X-ray: -prominent LV
-dilatation of the ascending Ao
ECG: LV hypertrofhy + LV strain
ECHO: Dg + follow-up; Doppler: transvalvular gradient
Treatment: - percutaneuos baloon valvuloplast
- surgical repair: simple resection Course & Prognosis: LV outflow tract obstruction -> progressive
ventricular dysrhythmias in adulthood
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TETRALOGY OF FALLOT
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Sy.& Signs:
- cyanosis - depends: - resistance to outflow from RV,
- size of VSD,
- syst. vascular resistance.- limited growth,
- squatting,
- clubbing (fingers, toes).
Cardiac Examination:- palpable RV lift,
- S2 is single (A2 only)
- gr.I-III/6, rough, ejection type systolic murmur at the left sternalborder, 3.rd intercostal space (outflow tract obstruction) and along
the left sternal border (VSD).
Lab.: Hb, Ht, RBC depending on the degree of arterial O2saturation.
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Chest X-ray: boot shaped heart (coeur en sabot),
- RA enlargement- pulmonary vascularity
ECG: right axis deviation
RVH
RA enlargement Catheterization: desaturation of Ao,
RV pressure= systemic pressure,
presure gradient: RV and PA,
angiography= dg.
Echo:dg.
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Treatment:
medical management:
- prostaglandin E2 for pulmonary atresia
- treat hypoxic spells: knee-chest position, O2, morphine
- propranolol to prevent hypoxic spells,- treat anemia
-prophylaxis for infective endocarditis
surgical management:
palliative repair: -Blalock-Taussig shunt,
complete surgical repair: total correction. Prognosis / Complications:
- progressive infundibular stenosis,
- hypoxic spells: = sudden onset of cyanosis + dyspnea,
= alterations in consciousness,
= or disappearance of systolic murmur.
- growth retardation,
- brain abscess,
- cerebrovascular accident,
- anemia polycythemia,
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TRICUSPID ATRESIA
Rare, < 1% Absence of the tricuspid valve
=> no direct communicationbetween the RA->RV
Types: 1.Without TGA:
a. no VSD, atresia of PA;
b. small VSD, pulmonary sten;
c. large VSD, normal PA.
2.With TGA:
a. VSD, pulmonary atresia;
b. VSD, pulmonary sten;
c. VSD, normal PA.
1. ASD
2. Missing Tricuspid Valve
3. Hypoplastic (very small) RV,
4. Pulmonary Stenosis (narrowing of pulmonary valve)
5. VSD
Symptoms & Signs:
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Symptoms & Signs:
- cyanosis at birth,
- congestive heart failure,
- growth failure,
- hypoxic spells,
- single S1,
- murmur: variable ejection, regrgitation:Pu.sten, VSD, PDA
X-ray: cardiomegaly, pulmonaryvascularity,
ECG: left axis deviation,
LVH, RA enlargement.
Echo: no tricuspid valve, small RV, LV dilatation,
Cath.: right-to-left shunt,
RA pressure,
atrial balloon septostomy
Treatment:- Pg E1, treat congestive heart failure, endocarditisprophyl.
- Fontan procedure: connection of the RA -> RV orPA.
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COMPLETE TRANSPOSITION OF THE
GREAT ARTERIES 16%
: = 1: 3
= atrioventricular concordance with
ventriculoarterial discordance.
+ VSD,ASD,Pulm.sten, PDA
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Symptoms & Signs:
- cyanosis at birth,
- feeding difficulties,
- loud, single S2,- systolic murmur (VSD, pulm. sten),
X-ray:oval, egg-shaped cardiac silhouette
narrowed superior mediastinum
pulmonary vascularity.
ECG: biventricular hypertrophy, right axis deviation, bradycardia Echo: both great vessels are parallel to each other + associated
lesions.
Catheterization: dg.+ therapy: balloon (Rashkind septostomy),
Treatment: - PgE2, treat congestive heart failure,
- arterial (Jatene repair) switch: the great vessels areswitched.