Cardio paeds

Downs cardiac anomaly =

endocardial cushion defect ecg =
left axis deviation
Cause meiotic non dysjuntion

RF
Erythema marginatum bathing suit
area of distribution
Aschoff bodies
McCallums plaque MC site = left
atrium
Bread and butter pericarditis

 Dilated Cardiomyopathy MC cause idiopathic. Drug

causing it adriamycin
Myopathy with hundred percent cardiac involvement
DMD
Hypertrophic Cardiomyopathy AD
MPS Restrictive Cardiomyopathy
Cardiomyopathy MC cause coxsackie
Viral MC cause of Myocarditis coxsackie B 5

Murmurs
Carey coombs Mitral delayed
diastolic
Austin flint severe AR, apical low
pitched
Graham steele PR murmur

 Cole cecil murmur AR murmur heard in

mid axillary area
Sea gull murmur high pitched musical
AR murmur
Gibson murmur machinery murmur in
PDA

 Differential cyanosis PDA with

reversal
PDA common in females
Common in high altitudes ASD and
PDA

Hypertrophic
Cardiomyopathy
Seen in
Friedrichs Ataxia triple repeat
disease
Pompes glycogen storage
Idiopathic chr 14 associated

Embryological remnants in
CVS
Septum secundum annulus ovalis
Septum primum fossa ovalis
Umbilical arteries medial umbilical
ligament
Left umbilical vein ligamentum teres of
liver
Ductus venosus ligamentum venosum
Ductus arteriosus ligamentum
arteriosum

Marfans

- aortic dissection
Mitral valve MC affected valve
Chromosome 15
Fibrillin gene

 Cyanosis 4 g/dl of unsaturated Hb

required to see cyanosis
Left to right shunts extra volume
load hyperdynamic praecordium

ASD
Ostium secundum
(MC) at fossa ovalis
right axis deviation
Ostium primum
inferior to fossa ovalis
left axis deviation

 widefixed splitting of S2 - extra

blood return during inspiration gets
equalized between the left and right
atrium due to the communication
that exists between the atria in
individuals with ASD.
Ejection murmur at P2

 A sinus venosus ASD is a type of atrial septum defect

in which the defect in the septum involves the
venous inflow of either thesuperior vena cavaor the
inferior vena cava.
Lutembachers- defined as the association of a
congenital atrial septal defect and an acquired mitral
stenosis.
Holt-Oram syndrome (hypoplastic or absent radii,
1st-degree heart block, ASD) or in families with
secundum ASD and heart block.

VSD
"the smaller the defect the larger the
murmur produced"
Maladie de Roger(Roger's disease),
which is a smallcongenital
asymptomaticventricular septal
defect(VSD)
MC congenital cardiac disease
complicated by IE

 MC type of VSD membranous

Supra cristal type- associated with
AR
Qp:Qs ratio > 2:1 large VSD
indication for Sx in children >2 years
of age
Swiss cheese septum multiple
defects in muscular VSD difficult to
close surgically
Palliative Sx for VSD pulmonary

 Pansystolic (Holosystolic) murmur along lower left sternal

border(depending upon the size of the defect) +/palpable thrill (palpable turbulence of blood flow). Heart
sounds are normal. Larger VSDs may cause a parasternal
heave, a displaced apex beat (the palpable heartbeat
moves laterally over time, as the heart enlarges). An
infant with a large VSD will fail to thrive and become
sweaty and tachypnoeic (breathe faster) with feeds.
P2 ejection systolic
M1 delayed diastolic
Rx: closure with Dacron patch if large shunt, CCF in
infancy or associated lesion (before 2 years)

 Small muscular VSD more likely to close

than membranous VSD
Indications for Sx CHF in infancy not
responding to medical mgmt, large L to
R shunt, associated pulm stenosis, pulm
HT or AR
Contra small VSD, PAH

PDA
Physiologic
closure
immediately;
anatomic closure
1-3 months??
Dilated
ascending aorta
Pulmonary HT at
birth
CCF by 6 weeks

 Delayed closure local release of PG, hypoxia,

systemic hypotension, acidosis, immaturity, increased
pulmonary pressure secondary to vasoconstriction
Ductus arteriosus becomes ligamentum arteriosum
after obliteration
Ductus venosus Ligamentum venosum
Rt and Lt umbilical artery medial umbilical
ligament
Lt umbilical vein ligamentum teres hepaticus
Allantois urachus median umbilical cleft

 PGF 2 alpha high conc in intrauterine life keeps

ductus open
Prostaglandin inhibitor stimulate closure of open
ductus
Indomethacin 0.1 mg/ kg every 12 hours * 3 doses
Ibuprofen
In pulm atresia with intact ventricular septum infuse
PGE 1 effective in keeping ductus arteriosus open,
thus reducing hypoxemia and acidemia before surgery

 In rubella
More in females 2:1
Common in premature infants
patency is a result of hypoxia and
immaturity
Closure to prevent IE
Small PDA closed with intravascular
coils
Moderate to large catheter induced
sac

 Continous machinery murmur best heard at 2 nd

left ICS
Loud S1
Frequent chest inf
Prominent carotid
Hyperkinetic
Rx: indomethacin in first 2 weeks
operative if diagnose late; risk increases
after 15 years; inoperable once R to L shunt sets
up due to pulm HT (differential cyanosis)

ToF
MC cyanotic CHD in >2 years

Pulmonary Steno
sis
or RVOT
(mostly
infundibular
level and rarely
valvular level)
RVH

Overriding Aorta
VSD (outlet
type)

 Pentology = tetrology + ASD

Triology = ASD + RVH + PS
Pink Fallot = no cyanosis clinically as
pulmonary outlet obstruction
minimal
Cour en sabot boot shaped heart
in ToF

 Severity of cyanosis proportional to

severity of pulmonic stenosis
Intensity of systolic murmur
inversely related to the severity of
pulmonic stenosis

Anoxic spells

Knee chest position

Humidifed O2
Morphine 0.1 to 0.2 mg/ kg sc
Na HCO3 to correct acidosis
Propranolol 0.1mg/ kg during spell
Vasopressors methoxamine,
phenylephrine
Correct anemia

 Single S2 (A2) due to R to L

shunting
Large a wave
Systolic P3 murmur
Tet spells
Squatting
Apneic spells on waking up
clubbing

Mx:
Blalock Taussigs shunt subclavian artery to
ipsilateral pulmonary artery

 Potts shunt descending aorta to left pulmonary artery

Waterstont shunt ascending aorta to right pulmonary
artery

Tricuspid Atresia

Tricuspid Atresia
Blood flows thru ASD/ VSD as Right
Ventricle is hypoplastic or absent.
since there is a lack of a right ventricle
theremustbe a way to pump blood into
thepulmonary arteries accomplished
by aventricular septal defect(VSD).
Complete mixing of blood
LV hypertrophy and LAD
only CHD with LAD

Cyanotic from birth

Enlarged liver cyanotic liver
Squatting
Anoxic spells
Sicker than ToF
Ecg left axis deviation
Single S2 (A2) large a wave

 <4 years - modifiedBlalockTaussigshunt or glenn shunt

>4 years Fontan procedure

 Glenn - Surgical anastomosis between the

superior vena cava and the right main
pulmonary artery to increase pulmonary
blood flow as a correction for tricuspid
atresia.
Fontan - A procedure in which total right atrial
or total caval blood flow is channeled directly
into the pulmonary artery or into a small right
ventricle that serves only as a conduit.

Pulmonary atresia
Glenn procedure followed by a
modified Fontan procedure

Ebsteins Anomaly
Atrialization of ventricle as tricuspid
valve fused to wall of right ventricle
Box shaped heart
Assoc with tricuspid atresia
Lithium use in 1st trimester
Intracavitary ECG is a Dx aid

 Cyanosis
Palpitations and sudden cardiac death
Symptoms of right heart failure, such as
edema and ascites
Clubbing
Wide variable split S2
Soft P2
Rx: Valvuloplasty

Transposition of the great

vessels(TGV)
is a group ofcongenitalheart defects(CHDs) involving an
abnormal spatial arrangement of any of thegreat vessels:
superiorand/orinferiorvenae cavae(SVC,IVC),
pulmonary artery,pulmonary veins, andaorta.
CHDs involving only the primaryarteries(pulmonary
artery and aorta) belong to a sub-group
calledtransposition of the great arteries(TGA).
Common in IDM babies

 MC lesion in cyanotic infant in newborn

period.
TGV- cyanosis noticed in first hour of life
ToF not present at birth. Cyanosis occurs
late in the first year of birth
TAPVC non obstructive type presents at 410 weeks; obstructive type at 1st week of life
PDA symptomatic early in life, CHF at 6-10
weeks
VSD symptomatic 6-10 weeks of life

 Egg on
string
appearance
in TGV

Single S2
Cyanotic at birth
CCF in 1st week
RVH
Recurrent RTI

 Dextro-Transposition of the great arteries

Indextro-Transposition of the great arteries (dextro-TGA)
deoxygenated blood from the right heart is pumped
immediately through the aorta and circulated to the body and
the heart itself, bypassing the lungs altogether, while the left
heart pumps oxygenated blood continuously back into the
lungs through the pulmonary artery. In effect, two separate "
circular" (parallel) circulatory systems are created. It is called
acyanoticcongenitalheart defect(CHD) because the newborn
infant turns blue from lack of oxygen.
Levo-Transposition of the great arteries
Levo-Transposition of the great arteries is anacyanoticheart
defect in which the primary arteries are transposed, with the
aorta anterior and to the left of the pulmonary artery, and the
morphological left and right ventricles are also transposed.
Rx: Double switch procedure

 Inc risk with Maternal Diabetes

Separate Circulations
Need VSD (amount of shunt
determines Generalized
Cyanosis)

management

Jatene arterial switch: Theaortaandpulmonary artery

are detached from theirnativerootsand reattached to the
opposite root; thus, the pulmonary root becomes the
neo-aorta, and the aortic root becomes the neo-pulmonary
artery. <2 weeks

Mustard switch: The Mustard Procedure allows total

correction of transposition of the great vessels. The
procedure employs abaffleto redirect caval blood flow to
the left atrium which then pumps blood to the left ventricle
which then pumps the deoxygenated blood to the lungs.
blood is pumped to the lungs via the left ventricle and
disseminated throughout the body via the right ventricle.

Senning : an atrial switch operation for patients with transposition of

the great arteries that employs a septal flap instead of excising the atrial

 Rashkind Balloon Atrial Septostomy:

Increased atrial Mixing
Blalock Hanlon procedure operative
atrial septostomy

Anomalous coronary artery/ ALCAPA

syndrome
Left coronary artery which normally branches
off theaortainstead branches off the
pulmonary artery.
After birth, pulm pressure falls perfusion
pressure to left coronary artery becomes
inadequate
Predisposes to MI
Child presents with features of angina pectoris
Cardiomegaly
Gallop rhythm

TAPVC
all four pulmonary veinsaremalpositionedand makeanomalousconnections
to thesystemic venouscirculation.
A patentforamen ovaleor anatrial septal defectmustbe present, or else the
condition is fatal due to a lack of systemic blood flow.
There are four variants:
Supracardiac(50%): blood drains to one of theinnominate veins
(brachiocephalic veins) or thesuperior vena cava
Cardiac(20%): blood drains intocoronary sinusor directly into right atrium
Infradiaphragmatic(20%): blood drains intoportalorhepatic veins
Mixed(10%)

 MC supracardiac
Figure of 8 or snowman appearance
Minimal cyanosis, ccf at 4-10 weeks,
irritable, failure to thrive, continuous
hum at suprasternal, recurrent RTI
Rx: surgery

PAPVC
Occasionally, an anomalous vein
draining into the inferior vena cava is
visible on chest radiography as a
crescentic shadow of vascular
density along the right border of the
cardiac silhouette (scimitar
syndrome); in these cases, an ASD
is not usually present, but
pulmonary sequestration and
anomalous arterial supply to that

Scimitar sign

Aorticopulmonary (AP) window

defect
An aorticopulmonary (AP) window
defect consists of a communication
between the ascending aorta and the
main pulmonary artery. The presence
of pulmonary and aortic valves and
an intact ventricular septum
distinguishes this anomaly from
truncus arteriosus

Coronary cameral fistula

A congenital fistula may exist between a
coronary artery and an atrium, ventricle
(especially the right), or pulmonary artery.
Sometimes, multiple fistulas exist.
Regardless of the recipient chamber, the
clinical signs are similar to those of PDA,
although the machinery-like murmur may be
more diffuse.

Ruptured Sinus of Valsalva

Aneurysm
When one of the sinuses of Valsalva of the aorta is
weakened by congenital or acquired disease, an aneurysm
may form and eventually rupture, usually into the right
atrium or ventricle.
symptoms of acute heart failure develop in association
with a new loud to-and-fro murmur.
Color Doppler echocardiography and cardiac
catheterization demonstrate the left-to-right shunt at the
atrial or ventricular level.
Urgent surgical repair is generally required. This condition
is often associated with infective endocarditis of the aortic
valve.

Vein of Galen malformation

Aneurysmal malformation of the vein of
galen - Large intracranial L to R shunts
heart failure
developmental delay, hydrocephalus (as its
midline and may obstruct flow of CSF) and
seizures
Most common AV malformation in neonates
Bulging anterior fontanelle with bruit
CT midline intensely enhancing lesion with
dilated lateral ventricles

Pulmonary Arteriovenous
Fistula
Fistulous vascular communications in the lungs may be
large and localized or multiple, scattered, and small.
The most common form of this unusual condition is the
Osler-Weber-Rendu syndrome (hereditary hemorrhagic
telangiectasia type I), which is also associated with
angiomas of the nasal and buccal mucous membranes,
gastrointestinal tract, or liver.
Mutations in the endoglin gene, a cell surface component
of the transforming growth factor- receptor complex
causes this syndrome. The usual communication is
between the pulmonary artery and pulmonary vein.

Left ventricular diverticulum

Left ventricular diverticulum is a rare anomaly, where
the diverticulum protrudes into the epigastrium.
A pulsating mass is usually visible and palpable in the
epigastrium.
Systolic or systolic-diastolic murmurs produced by blood
flow into and out of the diverticulum may be audible
over the lower part of the sternum and the mass.
The electrocardiogram shows a pattern of complete or
incomplete left bundle branch block.

Eisenmenger syndrome
Pulmonary HT resulting Rt to Lt shunt
Eisenmenger complex VSD with pulm HT
RVH and Right axis deviation on ECG
P pulmonale (big, tall, peaked P waves on
ECG)
dilated central pulmonary artery, pruning of
peripheral artery
pulmonary vein not distended

Heath Edwards classification

severity of Eisenmenger syndrome
Stages I and II represent disease that
is most likely reversible.
Stage III disease may still be
reversible, but in progressing to
stages IV-VI, the disease is thought to
become irreversible.

 (Heath-Edwards classification):

Grade I changes involve medial hypertrophy alone.

grade II consists of medial hypertrophy and intimal
hyperplasia
grade III involves near obliteration of the vessel lumen
grade IV includes arterial dilatation
grades V and VI include plexiform lesions,
angiomatoid formation, and fibrinoid necrosis.

Differential cyanosis if PDA

Fatigue
Dyspnea
Chest infection

 Pulmonary artery banding surgical

technique to reduce excessive
pulmonary blood flow in infants
suffering from congenital heart
defects VSD, endocardial cushion
defect
Norwood procedure hypoplastic left
heart

Truncus arteriosus
The pulmonary arteries can arise together from the posterior left
side of the persistent truncus arteriosus and then divide into left
and right pulmonary arteries (type I).
In types II and III truncus arteriosus, no main pulmonary artery is
present, and the right and left pulmonary arteries arise from
separate orifices on the posterior (type II) or lateral (type III)
aspects of the truncus arteriosus.
Type IV truncus is a term no longer used, since in this case there
is no identifiable connection between the heart and pulmonary
arteries, and pulmonary blood flow is derived from major
aortopulmonary collateral arteries (MAPCAs) arising from the
transverse or descending aorta; this is essentially a form of
pulmonary atresia

Single Ventricle (Double-Inlet

Ventricle, Univentricular Heart)
With a single ventricle, both atria empty through a
common atrioventricular valve or via 2 separate
valves into a single ventricular chamber, with total
mixing of systemic and pulmonary venous return.
If subaortic stenosis is present because of a
restrictive connection to a rudimentary outflow
chamber, (restrictive bulboventricular foramen)
surgical relief can be provided by anastomosing the
proximal pulmonary artery to the side of the
ascending aorta (Damus-Stansyl-Kaye
operation).

Abnormal Positions of the Heart and

the Heterotaxy Syndromes (Asplenia,
Polysplenia)
The atrial situs is usually similar to the situs of the
viscera and lungs.
In situs solitus, the viscera are in their normal positions
(stomach and spleen on the left, liver on the right), the 3lobed right lung is on the right, and the 2-lobed left lung
on the left; the right atrium is on the right, and the left
atrium is on the left.
When the abdominal organs and lung lobation are
reversed, an arrangement known as situs inversus
occurs, the left atrium is on the right and the right atrium
on the left.

 If the visceroatrial situs cannot be readily determined, a condition

known as situs indeterminus or heterotaxia exists.
The 2 major variations are
(1) asplenia syndrome (right isomerism or bilateral right-sidedness),
which is associated with a centrally located liver, absent spleen, and 2
morphologic right lungs;
(2) polysplenia syndrome (left isomerism or bilateral leftsidedness), which is associated with multiple small spleens, absence
of the intrahepatic portion of the inferior vena cava, and 2
morphologic left lungs.
Dextrocardia occurs when the heart is in the right side of the chest;
levocardia (the normal situation) is present when the heart is in the
left side of the chest.

 Commotio cordis is a nearly

universally fatal condition that
follows blunt nonpenetrating trauma
to the chest.
immediate ventricular fibrillation
Immediate DC defibrillation should
be effective, if available.

Still's murmur
(also known asvibratory murmur) is a
common type of benign or
"innocent"functional heart murmurthat is
not associated with any sort of cardiac
disorder or any other medical condition.

ESM
Grade 3 or less
Vibratory quality
Non radiating

Single gene defects

Autosomal dominant:
Marfans AR, MR/ MVP, Aortic dilatation/
dissection
Holt Oram ASD, first degree heart block,
VSD, upper limb dysplasia, hypoplasia of
clavicles
Noonans Pulmonary valve dysplasia,
hypertrophic cardiomyopathy; webbed
neck, pectus excavatum, cryptorchidism

Autosomal Recessive:
Pompes (type 2a glycogen storage
disorder) cardiomyopathy
Ellis Van Creveld AVSD, common
atrium

X linked:
Duchenne Muscular Dystrophy
cardiomyopathy
Polygenic inheritance
PDA

others
Kartageners dextrocardia, situs
inversus, sinusitis, bronchiectasis
Weber osler rendu AV fistula,
telengiectasia
Cystic fibrosis cor pulmonale,
pancreatic insufficiency,
malabsorption, chronic lung disease

Sex distribution
AS, Coarctation of Aorta more in
males
ASD, PDA more in females
VSD equal
MC CHD VSD

Syndromes and lesion

Trisomy 13, trisomy 18 ASD, VSD,
PDA
Trisomy 21 endocardial cushion
defect
Turners coarctation of aorta, AS
Williams syndrome supravalvular
AS
Cong. Rubella PDA, Peripheral
pulmonic stenosis
Di George syndrome aortic arch

 Glycogen storage disorders hypertrophic

cardiomyopathy
CHARGE syndrome coloboma, heart lesion,
atresia choanae, retardation, genital anomalies,
ear anomalies ToF, endocardial cushion
defects, VSD, ASD
VACTERL vertebral, anal, cardiac,
tracheoesophageal, renal, limb VSD, ASD, ToF

 Rubella PDA
Alcohol VSD
Dilantin PS, AS, CoA
XXXY and XXXXX PDA

embryology
21 days blood islands
23 days formn of bulboventricular tube with
an extrapericardial portion called aortic sac.
Cardiac loop forms and the caudal half of the
bulboventricular tube begins to represent the
early embryonic ventricle.
25 days heart completely occupies
pericardial cavity. Primitive devt of LV on the
left side;
the bulbus cordis on the right later RV

 27 days primitive atria, truncus arteriosus

1,2,3,4,6 aortic arches form series of
transformations
Ductus arteriosus ligamentum arteriosum
Complete CVS by 8 weeks

Fetal circulation

 Oxygenated blood to fetus carried by umbilical vein 50 pc to

liver and rest thru ductus venosus IVC Rt Atrium foramen
ovale LA LV ascending aorta upper portion of body
Blood returning thru SVC RA RV ejected into pulm arterial
trunk.

Most of this ductus arteriosus descending aorta supplies

lower part of the body
some of this pulm arteries lungs
Pulm resistance much higher in the fetus than in newborn
reasons for blood preferentially crossing the ductus arteriosus and
bypassing the lungs.

Pulm vascular pressures decreases after birth level sufficiently

below systemic pressures no L to R flow

NADAs criteria for assessment of

child for presence of heart disease
Major
-Systolic murmur grade 3 or more especially when associated with a
thrill
-Diastolic murmur
-Cyanosis
-Congestive heart failure
Minor
-Systolic murmur less than grade 3
-Abnormal S2
-Abnormal EKG
-Abnormal chest X ray
-Abnormal BP
Presence of one major or 2 minor criteria indicate very high
probability of a congenital heart disease

DORV
Double-outlet right ventricle (DORV) is
characterized when both the aorta and
pulmonary artery arise from the right
ventricle. The outlet from the left ventricle
is through VSD into the right ventricle.
The pulmonary obstruction is relieved
either with an outflow patch or with a right
ventricular to pulmonary artery homograft
conduit (Rastelli operation).

TaussigBing syndrome
bothdouble outlet right ventricle
(DORV) andsubpulmonic
ventricular septal defect(VSD).
Transposition of great arteries

Coarctation of Aorta
Turners
2:1 males
98 pc occur below
origin of left
subclavian artery
Narrowing of ant,
lat and posterior
wall
40 80 pc have a
bicuspid valve

Disparity in pulsations and BP in arms and legs

Heart failure in one month of life
Ejn systolic murmur max at interscapular area
Intermittent claudication, pain, weakness of
legs, headache and dizziness

Complications:
cerebral aneurysm, rupture of intercostal
aneurysm, dissection of aorta, IE, CHF

 MC site distal to the

origin of left subclavian
artery
Infantile type increased
severity
Adult type mild
Ribnotching of 4-9th ribs
with double bulging
Continous murmur heard
over the collaterals
Suzmans sign

 Postductal coarctation collaterals

thru intercostal arteries and superior
epigastric artery

Shone complex
comprises of a set of four left-sided cardiac
defects, namely:
supra valvular mitral membrane (SVMM),
parachutemitral valve
sub aortic stenosis (membranous or
muscular)
coarctationof theaorta.

Aortic stenosis
Rx:
aortic valve replacement
aortopulmonary translocation
(Ross procedure)

Heart failure - timing

Birth 72 hours pulm, mitral and aortic
stenosis
4 days to 1 week hypoplastic left and
right heart syndromes, transposition and
malposition of great arteries
1 week to 4 weeks transposition and
malposition complexes, endocardial cushion
defects, coarctation of aorta

 1-2 months transposition and

malposition complexes, endocardial
cushion defects, VSD, PDA, TAPVC,
anomalous left coronary artery from
pulmonary artery
2-6 months transposition and
malposition complexes, VSD, PDA,
TAPVC, AS, CoA.

IE
MC in damaged valves Strep viridans
MC in native valves Staph aureus
In prosthetic valve coagulase
negative staphylococcus
IV drug abusers Staph aureus

RF
Grp A strep pharyngitis
M proteins of strains 1,3,5,6,18
Carey Coombs murmur MDM
rumbling murmur at apex due to
edema of mitral valve
Carditis steroids given for 3 weeks

 Myocarditis commonest cause of

heart failure in infants
Infantile myocarditis and pericarditis
coxsackie B

 CCF diagnosed in a child by liver

enlargement
Digoxin 0.04-0.06 mg/kg
Oral dose 2/3 of iv

 RHD commonest lesion is MR

Infantile hypercalcemia syndrome
supravalvular AS

Chest X ray appearance

Cor en sabot TOF

Snowman TAPVC
Egg on side appearance TGA
Erosion of rib lower margins + figure
of 3 appearance Coarctation of
Aorta
Right sided aortic arch- TOF and
truncus arteriosus

Syndromes and CHD

Lutembachers ASD + acquired MS
Noonan PS
Congenital rubella syndrome peripheral
PS + PDA
Hurlers, Hunters AR, MR

Hurlers large QRS, coarse facies,

HSmegaly

 Holt Oram (AD) ASD + hypoplastic

thumb
Romano ward syndrome long QT
Turners CoA
Watson Alagille syndrome PS
Williams syndrome supravalvular
AS + per. PS

Surgeries and CHD

Blalock Taussig, Watersons, Potts
TOF
Jatenes, Mustard, Senning, Rashkind
balloon atrial septostomy TGA
Ross procedure, Konno procedure
Congenital AS

 Norwood procedure Hypoplastic left

heart syndrome
Fontann surgery, Glenn shunt
Tricuspid atresia
Batista procedure (reduction left
ventriculoplasty) dilated
cardiomyopathy

ECG
Maternal SLE Cong heart block
Cyanotic CHD with LAD Tricuspid atresia
Ebsteins anomaly WPW, quadruple rhythm,
RBBB, Himalayan P waves, Massive
cardiomegaly
Pompes Massive QRS complex (also HS
megaly, Macroglossia)

 Gerbode defect LV to RA shunt,

murmur heard in utero, prone for IE,
arrhythmias common
Scimitar syndrome variant of TAPVC
pulmonary veins of right lung
drains into IVC, right lung hypoplastic

 Taussig Bing subpulmonary VSD +

DORV
Uhls anomaly aplasia or hypoplasia
of RV muscle
Katz Watchel phenomenon
Biventricular hypertrophy,
equidiphasic RS complex seen in ECG
in non restrictive VSD

CHROMOSOMAL DISORDERS
Trisomy 21 (Down syndrome)
Trisomy 21p (cat eye
syndrome)
Trisomy 18
Trisomy 13
XXXXY
Penta X
Triploidy
XO (Turner syndrome)
Fragile X

Endocardial cushion defect,

VSD, ASD
Miscellaneous, total
anomalous pulmonary venous
return
VSD, ASD, PDA, coarctation of
aorta, bicuspid aortic or
pulmonary valve
VSD, ASD, PDA, coarctation of
aorta, bicuspid aortic or
pulmonary valve
PDA, ASD
PDA, VSD
VSD, ASD, PDA
Bicuspid aortic valve,
coarctation of aorta
Mitral valve prolapse, aortic
root dilatation

SYNDROME COMPLEXES
CHARGE association (coloboma,
heart, atresia choanae,
retardation, genital, and ear
anomalies)
DiGeorge sequence, CATCH 22
(cardiac defects, abnormal
facies, thymic aplasia, cleft
palate, and hypocalcemia)
Alagille syndrome
(arteriohepatic dysplasia)
VATER association (vertebral,
anal, tracheo esophageal,
radial, and renal anomalies)
FAVS (facio-auriculo-vertebral
spectrum)
CHILD (congenital
hemidysplasia with
ichthyosiform erythroderma,
limb defects)

VSD, ASD, PDA, TOF,

endocardial cushion defect
Aortic arch anomalies,
conotruncal anomalies
Peripheral pulmonic stenosis,
PS, TOF
VSD, TOF, ASD, PDA
TOF, VSD
Miscellaneous

Mulibrey nanism (muscle, liver, Pericardial thickening,

brain, eye)
constrictive pericarditis
Complex cyanotic heart lesions
with decreased pulmonary blood
flow, transposition of great
Asplenia syndrome
arteries, anomalous pulmonary
venous return, dextrocardia,
single ventricle, single
atrioventricular valve
Acyanotic lesions with increased
pulmonary blood flow, azygos
continuation of inferior vena
Polysplenia syndrome
cava, partial anomalous
pulmonary venous return,
dextrocardia, single ventricle,
common atrioventricular valve
PHACE syndrome (posterior
brain fossa anomalies, facial
hemangiomas, arterial
VSD, PDA, coarctation of aorta,
anomalies, cardiac anomalies
arterial aneurysms
and aortic coarctation, eye

OTHERS
Apert syndrome

VSD

Autosomal dominant polycystic

Mitral valve prolapse
kidney disease
Carpenter syndrome

PDA

Conradi syndrome

VSD, PDA

Crouzon disease

PDA, coarctation of aorta

Cutis laxa

Pulmonary hypertension,
pulmonic stenosis

de Lange syndrome

VSD

Ellisvan Creveld syndrome

Single atrium, VSD

Holt-Oram syndrome

ASD, VSD, 1st-degree heart

block

Infant of diabetic mother

Hypertrophic cardiomyopathy,
VSD, conotruncal anomalies

Kartagener syndrome

Dextrocardia

Meckel-Gruber syndrome ASD, VSD

Pulmonic stenosis, ASD,
Noonan syndrome
cardiomyopathy
Endocardial cushion
Pallister-Hall syndrome
defect
Rubinstein-Taybi syndrome VSD
Hypoplasia of right lung,
anomalous pulmonary
Scimitar syndrome
venous return to inferior
vena cava
Smith-Lemli-Opitz
VSD, PDA
syndrome
TAR syndrome
(thrombocytopenia and
ASD, TOF
absent radius)
Treacher Collins syndrome VSD, ASD, PDA
Supravalvular aortic

INFLAMMATORY DISORDERS
Juvenile rheumatoid arthritis

Pericarditis, rarely myocarditis

Pericarditis, Libman-Sacks
endocarditis, coronary arteritis,
Systemic lupus erythematosus coronary atherosclerosis (with
steroids), congenital heart
block
Pulmonary hypertension,
Scleroderma
myocardial fibrosis,
cardiomyopathy
Dermatomyositis

Kawasaki disease
Lyme disease
L?ffler hypereosinophilic
syndrome

Cardiomyopathy, arrhythmias,
heart block
Coronary artery aneurysm and
thrombosis, myocardial
infarction, myocarditis, valvular
insufficiency
Arrhythmias, myocarditis
Endomyocardial disease

INBORN ERRORS OF METABOLISM

Refsum disease

Arrhythmia, sudden death

Hunter or Hurler syndrome

Valvular insufficiency, heart

failure, hypertension

Fabry disease

Mitral insufficiency, coronary

artery disease with myocardial
infarction

Glycogen storage disease IIa

(Pompe disease)

Short P-R interval,

cardiomegaly, heart failure,
arrhythmias

Carnitine deficiency

Heart failure, cardiomyopathy

Gaucher disease

Pericarditis

Homocystinuria

Coronary thrombosis

Alkaptonuria

Atherosclerosis, valvular disease

Morquio-Ullrich syndrome

Aortic incompetence

Scheie syndrome

Aortic incompetence

NEUROMUSCULAR DISORDERS
Friedreich ataxia
Duchenne dystrophy
Tuberous sclerosis
Neurofibromatosis
Riley-Day syndrome
Von HippelLindau
disease

Cardiomyopathy
Cardiomyopathy, heart
failure
Cardiac rhabdomyoma
Pulmonic stenosis,
pheochromocytoma,
coarctation of aorta
Episodic hypertension,
postural hypotension
Hemangiomas,
pheochromocytomas

Jervell and Lange-Nielsen

syndrome

Prolonged QT interval,
sudden death

Kearns-Sayre syndrome

Heart block

LEOPARD syndrome LEOPARD, multiple

lentigines,
electrocardiographic
conduction abnormalities,
Pulmonic stenosis,
ocular hypertelorism,
prolonged Q-T interval
pulmonary stenosis,
abnormal genitals,
retardation of growth,
sensorineural deafness.

Progeria

Accelerated
atherosclerosis

Osler-Weber-Rendu
disease

Arteriovenous fistula
(lung, liver, mucous
membrane)

Romano-Ward syndrome

Prolonged Q-T interval,

sudden death

Weill-Marchesani
syndrome

Patent ductus arteriosus

Werner syndrome

Vascular sclerosis,
cardiomyopathy

 Cardiac lesions associated with

22q11.2 deletions are most often
seen in association with either the
DiGeorge syndrome or the
Shprintzen (velocardiofacial)
syndrome.
Brugada syndrome (RBBB, ST
segment elevation, unexpected
sudden death) SCN5A (Na+

ARRHYTHMIAS
Complete heart block
Long Q-T syndrome
LQT1 (autosomal
dominant)
LQT2 (autosomal
dominant)
LQT3 (autosomal
dominant)
LQT4 (autosomal
dominant)
LQT5 (autosomal
dominant)
LQT6
Jervell and LangeNielsen syndrome
(autosomal recessive,
congenital deafness)

Not known
KVLQT1 (K+ channel)
HERG (K+ channel)
SCN5A (Na+ channel)
Not known
KCNE1 (K+ channel)
KCNE2 (K+ channel)
KVLQT1 (K+ channel)

Dilated cardiomyopathy
In 20-50% of cases, the DCM is familial with autosomal
dominant inheritance most common.
Duchenne and Becker muscular dystrophies are X-linked
cardiomyopathies
Mitochondrial myopathies, like the muscular dystrophies,
may present clinically with a predominance of extra cardiac
findings and are inherited in a recessive or mitochondrial
pattern.
Disorders of fatty acid oxidation
Anthracycline cardiotoxicity (doxorubicin [Adriamycin])

Hypertrophic
Cardiomyopathy
HCM is a genetic disorder and frequently occurs as a result of
mutations in sarcomere or cytoskeletal components of the
cardiomyocyte.
Mutations of the genes encoding cardiac -myosin heavy-chain
(MYH7) and myosin-binding protein C (MYBPC3) are the most
common.
Autosomal dominant pattern
nonsarcomeric protein mutations, such as the -2-regulatory
subunit of AMP-activated protein kinase (PRKAG2) and the
lysosome-associated membrane protein 2-galactosidase (Danon
disease, a form of glycogen storage disease).
Noonan syndrome

Pompe disease
Glycogen storage disorders such as Pompe
disease often present in infancy with a heart
murmur, abnormal ECG, systemic signs and
symptoms, and occasionally heart failure.
The characteristic electrocardiogram in Pompe
disease demonstrates prominent P waves, a
short P-R interval, and massive QRS voltages;
the echocardiogram confirms severe, often
concentric, left ventricular hypertrophy.

Endocardial fibroelastosis (EFE)

The decline in primary EFE is likely related to the abolition of
mumps virus infections by immunization practices.
In secondary EFE, severe congenital heart disease of the left-sided
obstructive type (aortic stenosis or atresia, forms of hypoplastic
left heart syndrome, or severe coarctation of the aorta) is present.
EFE is characterized by an opaque, white, fibroelastic thickening
on the endocardial surface of the ventricle, which leads to systolic
or diastolic dysfunction.
ECHO - abnormal trabeculations of the left ventricle at the apex

 Rhabdomyomas are the most common pediatric cardiac tumors

and are associated with tuberous sclerosis.
Atrial and ventricular arrhythmias have been reported with
rhabdomyomas, and on occasion, ventricular pre-excitation (WolffParkinson-White) is present on ECG.
Fibroma Gorlin syndrome
Hepatic arteriovenous fistulas may be generalized or localized
in the liver and may be hemangioendotheliomas or cavernous
hemangiomas. The fistula may be located between the hepatic
artery and the ductus venosus or portal vein.
Hepatomegaly is usual, and systolic or continuous murmurs may
be audible over the liver.
Fistula- Embolic agents that have been used include detachable
balloons, steel (Gianturco) coils, and liquid tissue adhesives
(cyanoacrylate).

 Loefflers eosinophilia cardiomyopathy

Commonest cause of constrictive pericaditis
TB
Commonest cause for MI:
infant- ALCAPA
children Kawasaki
Commonest acquired cause for MI Kawasaki
Reverse coarctation Kawasaki

 HTN- >95th percentile

Heterotopic heart transplantation has been
used for patients with left ventricular
cardiomyopathy and elevated pulmonary vascular
resistance. In this operation, the donor and
recipient hearts are connected in parallel, so that
the recipient right ventricle (which has
hypertrophied over time due to the elevated
pulmonary pressures) pumps mostly to the lungs,
and the donor left ventricle pumps mostly to the
body.

 Digoxin life 36 hours

Hypokalemia, hypercalcemia,
hypomagnesemia, myocarditis ppt
digoxin toxicity

BNP
Measurement of brain natriuretic peptide (BNP), often
elevated in heart disease, can help differentiate cardiac
from pulmonary causes of pulmonary edema. A BNP level
>500pg/mL suggests heart disease; a level <100pg/mL
suggests lung disease.
Serum B-type natriuretic peptide (BNP), a cardiac
neurohormone released in response to increased ventricular
wall tension, is elevated in adult patients with congestive
heart failure. In children, BNP may be elevated in patients
with heart failure due to systolic dysfunction
(cardiomyopathy) as well as in children with volume
overload (left-to-right shunts such as ventricular septal
defect).

 Purulent pericarditis staph, h. inf,

neisseria
Panton-Valentine leukocidin (PVL) prod by S. aureus and has been associated
with invasive skin disease, combines with
the phospholipid of the phagocytic cell
membrane, producing increased
permeability, leakage of protein, and
eventual death of the cell.

 Post pericardiectomy syndrome

after open heart surgery NSAID,
steroids
Pericardial fluid 10 to 15 ml
tamponade 1000 ml

 Culture negative IE Q fever,

bartonella