Cardiology Paediatric

• Down’s – cardiac anomaly =

endocardial cushion defect  ecg =

left axis deviation

RF

• Erythema marginatum – bathing suit area of distribution

• Aschoff bodies

• McCallum’s plaque – MC site = left atrium

• 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

Murmurs

• Carey coombs – Mitral delayed diastolic

• Austin flint – severe AR, apical low pitched

• 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

• Friedrich’s Ataxia – triple repeat disease

• Pompe’s – 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

Marfan’s

• - aortic dissection

• Mitral valve – MC affected valve • Chromosome 15

• 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

• wide fixed 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.

• A sinus venosus ASD is a type of atrial septum defect in which the defect in the septum involves the

venous inflow of either the superior vena cava or the 

inferior vena cava.

• Lutembacher’s- 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 small congenital

 asymptomatic ventricular 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 artery banding

• 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

PDA

• 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 2nd

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

level and rarely valvular level)  RVH   Overriding Aorta  VSD (outlet type) Right sided aortic arch in 20 pc

• 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 Taussig’s shunt  subclavian artery to ipsilateral pulmonary artery

• Pott’s shunt  descending aorta to left pulmonary artery • Waterston’t shunt  ascending aorta to right pulmonary

Tricuspid Atresia

• Blood flows thru ASD/ VSD as Right Ventricle is hypoplastic or absent.

•  since there is a lack of a right ventricle there must be a way to pump blood into the pulmonary arteries accomplished by a ventricular septal defect (VSD).

• Complete mixing of blood • LV hypertrophy and LAD

• Cyanotic from birth

• Enlarged liver – cyanotic liver • Squatting

• Anoxic spells

• Sicker than ToF

• Ecg – left axis deviation

• <4 years - modified Blalock-Taussig shunt 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

Ebstein’s 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

• Cyanosis

• Palpitations and sudden cardiac death

• Symptoms of right heart failure, such as edema and ascites

• Clubbing

• Wide variable split S2 • Soft P2

Transposition of the great

vessels (TGV)

• is a group of congenital heart defects (CHDs) involving an abnormal spatial arrangement of any of the great vessels: 

superior and/or inferior venae cavae (SVC, IVC), 

pulmonary artery, pulmonary veins, and aorta.

• CHDs involving only the primary arteries (pulmonary artery and aorta) belong to a sub-group

called transposition 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 4-10 weeks; obstructive type at 1st week of life

• PDA – symptomatic early in life, CHF at 6-10 weeks

• Egg on string

appearance in TGV

• Single S2

• Cyanotic at birth • CCF in 1st week • RVH

• Dextro-Transposition of the great arteries

In dextro-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 a cyanotic congenital heart 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 an acyanotic heart 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.

• Inc risk with Maternal Diabetes • Separate Circulations

• Need VSD (amount of shunt

determines Generalized Cyanosis)

management

• Jatene arterial switch: The aorta and pulmonary artery

 are detached from their native roots and 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 a baffle to 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 septum as in the Mustard operation, thus minimizing foreign material and allowing for growth.

• 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 the aorta instead 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

TAPVC

• all four pulmonary veins are malpositioned and make anomalous connections to the systemic venous circulation.

• A patent foramen ovale or an atrial septal defect must be 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 the innominate veins  (brachiocephalic veins) or the superior vena cava

• Cardiac (20%): blood drains into coronary sinus or directly into right atrium • Infradiaphragmatic (20%): blood drains into portal or hepatic veins

• 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

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 lobe are common findings.

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-β 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

Heath Edwards classification –

severity of Eisenmenger syndrome

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,

• Differential cyanosis – if PDA • Fatigue

• Dyspnea

• 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

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 3-lobed right lung is on the right, and the 2-3-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

left-sidedness), 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

• 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 as vibratory murmur) is a common type of benign or

"innocent" functional heart murmur that 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:

• Marfan’s – AR, MR/ MVP, Aortic dilatation/ dissection

• Holt Oram – ASD, first degree heart block, VSD, upper limb dysplasia, hypoplasia of clavicles

• Noonan’s – Pulmonary valve dysplasia, hypertrophic cardiomyopathy; webbed neck, pectus excavatum, cryptorchidism

Autosomal Recessive:

• Pompe’s (type 2a glycogen storage disorder) – cardiomyopathy

• Ellis Van Creveld – AVSD, common atrium

X linked:

• Duchenne Muscular Dystrophy – cardiomyopathy

Polygenic inheritance • PDA

others

• Kartagener’s – dextrocardia, situs inversus, sinusitis, bronchiectasis • Weber osler rendu – AV fistula,

telengiectasia

• Cystic fibrosis – cor pulmonale, pancreatic insufficiency,

Sex distribution

• AS, Coarctation of Aorta  more in males

• ASD, PDA  more in females • VSD  equal

Syndromes and lesion

• Trisomy 13, trisomy 18  ASD, VSD, PDA

• Trisomy 21  endocardial cushion defect

• Turner’s  coarctation of aorta, AS • William’s syndrome – supravalvular

AS

• Cong. Rubella  PDA, Peripheral pulmonic stenosis

• Di George syndrome – aortic arch anomalies, ToF, Pulm atresia, TGV, truncus arteriois

• 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,

• Rubella – PDA • Alcohol – VSD

• Dilantin – PS, AS, CoA

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;

• 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

• 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

NADA’s 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).

Taussig–Bing syndrome

• both double outlet right ventricle  (DORV) and subpulmonic 

ventricular septal defect (VSD). • Transposition of great arteries

Coarctation of Aorta

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 –

• 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), parachute mitral valve

sub aortic stenosis (membranous or muscular)

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

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

• 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

• Lutembacher’s – ASD + acquired MS • Noonan – PS

• Congenital rubella syndrome – peripheral PS + PDA

• Hurler’s, Hunter’s – AR, MR

Hurler’s – large QRS, coarse facies, HSmegaly

• Holt Oram (AD) – ASD + hypoplastic thumb

• Romano ward syndrome – long QT • Turner’s – CoA

• Watson Alagille syndrome – PS

• Williams syndrome – supravalvular AS + per. PS

Surgeries and CHD

• Blalock Taussig, Waterson’s, Pott’s  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

ECG

• Maternal SLE – Cong heart block

• Cyanotic CHD with LAD – Tricuspid atresia

• Ebstein’s anomaly – WPW, quadruple rhythm, RBBB, Himalayan P waves, Massive

cardiomegaly

• Pompe’s – 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

• Taussig Bing – subpulmonary VSD + DORV

• Uhl’s 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) Endocardial cushion defect, _{VSD, ASD} Trisomy 21p (cat eye

syndrome)

Miscellaneous, total

anomalous pulmonary venous return

Trisomy 18

VSD, ASD, PDA, coarctation of aorta, bicuspid aortic or

pulmonary valve

Trisomy 13 VSD, ASD, PDA, coarctation of aorta, bicuspid aortic or pulmonary valve

XXXXY PDA, ASD

Penta X PDA, VSD

Triploidy VSD, ASD, PDA

XO (Turner syndrome) Bicuspid aortic valve, _{coarctation of aorta}

SYNDROME COMPLEXES

CHARGE association (coloboma, heart, atresia choanae,

retardation, genital, and ear anomalies)

VSD, ASD, PDA, TOF,

endocardial cushion defect

DiGeorge sequence, CATCH 22 (cardiac defects, abnormal

facies, thymic aplasia, cleft palate, and hypocalcemia)

Aortic arch anomalies, conotruncal anomalies

Alagille syndrome

(arteriohepatic dysplasia) Peripheral pulmonic stenosis, PS, TOF

VATER association (vertebral,

anal, tracheo esophageal,

radial, and renal anomalies) VSD, TOF, ASD, PDA

FAVS (facio-auriculo-vertebral spectrum) TOF, VSD CHILD (congenital hemidysplasia with ichthyosiform erythroderma, limb defects) Miscellaneous

Mulibrey nanism (muscle, liver,

brain, eye) Pericardial thickening, constrictive pericarditis

Asplenia syndrome

Complex cyanotic heart lesions with decreased pulmonary blood flow, transposition of great

arteries, anomalous pulmonary venous return, dextrocardia, single ventricle, single

atrioventricular valve

Polysplenia syndrome

Acyanotic lesions with increased pulmonary blood flow, azygos continuation of inferior vena cava, partial anomalous

pulmonary venous return,

dextrocardia, single ventricle, common atrioventricular valve

PHACE syndrome (posterior brain fossa anomalies, facial hemangiomas, arterial

anomalies, cardiac anomalies and aortic coarctation, eye anomalies)

VSD, PDA, coarctation of aorta, arterial aneurysms

OTHERS

Apert syndrome VSD Autosomal dominant polycystic

kidney disease Mitral valve prolapse Carpenter syndrome PDA

Conradi syndrome VSD, PDA

Crouzon disease PDA, coarctation of aorta Cutis laxa Pulmonary hypertension, _{pulmonic stenosis} de Lange syndrome VSD

Ellis–van 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

Noonan syndrome Pulmonic stenosis, ASD, _{cardiomyopathy} Pallister-Hall syndrome Endocardial cushion _defect

Rubinstein-Taybi syndrome VSD Scimitar syndrome

Hypoplasia of right lung, anomalous pulmonary venous return to inferior vena cava

Smith-Lemli-Opitz

syndrome VSD, PDA

TAR syndrome

(thrombocytopenia and

absent radius) ASD, TOF

Treacher Collins syndrome VSD, ASD, PDA Williams syndrome

Supravalvular aortic stenosis, peripheral pulmonic stenosis

INFLAMMATORY DISORDERS

Juvenile rheumatoid arthritis Pericarditis, rarely myocarditis

Systemic lupus erythematosus

Pericarditis, Libman-Sacks

endocarditis, coronary arteritis, coronary atherosclerosis (with steroids), congenital heart

block

Scleroderma Pulmonary hypertension, myocardial fibrosis, cardiomyopathy

Dermatomyositis Cardiomyopathy, arrhythmias, _{heart block}

Kawasaki disease

Coronary artery aneurysm and thrombosis, myocardial

infarction, myocarditis, valvular insufficiency

Lyme disease Arrhythmias, myocarditis L?ffler hypereosinophilic

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

NEUROMUSCULAR DISORDERS

Friedreich ataxia Cardiomyopathy

Duchenne dystrophy Cardiomyopathy, heart _failure

Tuberous sclerosis Cardiac rhabdomyoma

Neurofibromatosis Pulmonic stenosis, pheochromocytoma, coarctation of aorta

Riley-Day syndrome Episodic hypertension, _{postural hypotension} Von Hippel–Lindau

Jervell and Lange-Nielsen

syndrome Prolonged QT interval, sudden death Kearns-Sayre syndrome Heart block

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

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 Not known Long Q-T syndrome

 LQT1 (autosomal

dominant) KVLQT1 (K+ channel)  LQT2 (autosomal

dominant) HERG (K+ channel)  LQT3 (autosomal

dominant) SCN5A (Na+ channel)  LQT4 (autosomal

dominant) Not known

 LQT5 (autosomal

dominant) KCNE1 (K+ channel)  LQT6 KCNE2 (K+ _channel)

 Jervell and Lange-Nielsen syndrome

(autosomal recessive, congenital deafness)

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

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 β-myosin heavy-chain

(MYH7) and myosin-binding protein C (MYBPC3) are the most

common.

• Autosomal dominant pattern

• nonsarcomeric protein mutations, such as the γ-2-regulatory subunit of AMP-activated protein kinase (PRKAG2) and the

lysosome-associated membrane protein 2α-galactosidase (Danon

disease, a form of glycogen storage disease).

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.

• 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 (Wolff-Parkinson-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

• Loeffler’s 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 ½ 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 >500 pg/mL suggests heart disease; a level <100 pg/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