Cardiac Malformations

8/2/2019 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.

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Cardiac Malformations