Cyanotic Heart Disease

Casey Wong MS III

Overview

Specific Cyanotic Congenital Heart Diseases

Evaluation of Cyanosis

Case Presentation

Epidemiology of Congenital Heart Disease Incidence of congenital heart disease is 1 in 100

live births

Critical Congenital Heart Disease 1 in 400 live births

Of these, 1/3 have cyanotic heart disease

Etiology of Congenital Heart Disease % of All Lesion

OBSTRUCTIVE LESIONS (Coarctation, aortic/pulmonic stenosis)

ACYANOTIC LESIONS (VSD 30-35, ASD, PDA)

CYANOTIC LESIONS – “5 T’s”

Tetralogy of Fallot 5-7 Transposition of great arteries 3-5Truncus arteriosus 1-2Total Anomalous Pulmonary Venous Return 1-2Tricuspid atresia 1-2

(pulmonary atresia) 1-2

(hypoplastic left heart syndrome) 1-2

Transposition of the Great Arteries

Mixing lesion/ductal independent*

*need PGE1 to increase mixing

Transposition of Great ArteriesSecond most common cause of cyanosis in infancy

Pulmonary and systemic circulations form two separate circuits

Must be mixing between two circuits for life“egg-shaped silhouette”

Clinical Findings

Severe cyanosis present at birth with vasculature

1/3 have VSD, some have ASD

Some have subpulmonic stenosis

Loud, single S2

Systolic murmur indicates VSD or pulmonic stenosis

ECG reveals right ventricular hypertrophy

Transposition of Great Arteries: Tx PGE1 administration necessary

Balloon atrial septostomy necessary (Rashkind procedure)

Arterial Switch procedure performed first week of life

Hypoplastic left heart

Ductal Dependent for systemic flow

Hypoplastic Left HeartPresents first week of life, as PDA closes symptoms develop

PGE administration

Ductal dependant systemic blood flow

Tricuspid Atresia

Ductal Dependent Pulmonary Blood flow

Tricuspid AtresiaTricuspid valve fails to develop

Hypoplasia of right heart

Venous blood from right atrium depends on open ASD or PFO, VSD, PDA

Tricuspid Atresia-Clinical Findings Progressive cyanosis as PDA closes

30% transposition of great arteries

70% some degree of Pulmonic stenosis

Tacypneic, single S2

Systolic murmur along left lower sternal border (VSD)

ECG reveals left ventricular hypertrophy

Tricuspid Atresia: Tx

PGE1 administration necessary

Balloon atrial septostomy

shunt placed between subclavian artery and pulmonary artery in neonates when pulmonary resistance still high

Eventually superior and inferior vena cava are connected directly to the pulmonary arteries

Truncus Arteriosus

Mixing lesion/ductal independent

Truncus ArteriosusFailure of primitive truncus arteriosus to divide into aorta and pulm A.

VSD almost always present

Right Sided-arch in about 33%Cardiomegaly, increased pulmonary vascularity,

right aortic arch

Truncus Arteriosus-Clinical Findings Minimal cyanosis at birth; Death at 6 months

Congestive Heart failure develops in weeks Pulmonary vascular resistance falls and pulmonary blood flow

increases at the expense of systemic flow

Bounding pulses, pulse pressure widened

Loud, single S2

Systolic murmur heard at left sternal border

ECG reveals biventricular hypertrophy

Truncus Arteriosus: Tx

Surgical repair at 2 to 3 months of age

Closing VSD

Separation of pulmonary arteries from truncal vessels

Placing conduit between right ventricle and pulmonary arteries

Tetralogy of Fallot

Ductual-dependent pulmonary blood flow

Tetralogy of FallotMost Common cause of cyanotic heart disease beyond neonatal period

Degree of Pulmonary stenosis and size of VSD determine presentation

Variable degree of Cyanosis “Boot Shaped Heart”

Tetralogy of Fallot- Clinical Findings squatting

“Tet spells” – due to pulmonary outflow tract spasm

Severe cases ---at birth---severe PS

Mild cases ---- much later---mild PS

Cyanosis usually

ECG reveals right ventricular hypertrophy

Tetralogy of Fallot: Tx

Squatting relieves tet spells– venous return, systemic resistance

Surgical repair performed during first 3 to 5 years old

VSD closed with a patch, pulmonary stenosis opened up with balloon

Total Anomalous Pulmonary Venous Connection

Ductal-independent mixing lesion (increased PBF)

Total Anomalous Pulmonary Venous Connection

Pulmonary veins are not connected to the left atrium

Systemic circulation dependant on shunting through ASD or PFO

Variable degree of Cyanosis-dependant on presence of obstruction

snowman

Schematic Drawing of Cardiac Defects

A: Normal Circulation

B: Tetralogy of Fallot

C: Pulmonary Atresia

D: Tricuspid Atresia

E: Transposition of Great Arteries

F: Truncus Arteriosus

Evaluation of Cyanotic Heart Disease

Physical Examination Central Cyanosis vs. Peripheral cyanosis

Vital signs

Lung and CNS examination to rule these out

Cardiac Examination Heaves, thrills, abnormal or increased precordial activity Absent or diminished femoral pulses Abnormal first or second heart sound (abnormal splitting) Extra heart sounds (gallop, ejection click, opening snap) Murmurs that are loud, harsh, blowing

History Difficulty feeding, irritablility, diaphoresis, failure to thrive

Prenatal history: maternal diabetes, SLE

Congenital Infections (TORCH)

Drugs taken in pregnancy

Family history: heart problem before 50 y.o.

Chromosomal Abnormalities

Hypoxemia Differential Right-to-Left Shunt

INTRACARDIAC, Great Vessels, pulmonary AV malformation

V/Q Mismatch Pneumonia, atelectasis, aspiration, pulmonary hypoplasia

Hypoventilation CNS depression, Neuromuscular disease, Airway obstruction

Diffusion Impairment Pulmonary edema, pulmonary fibrosis

Hemoglobinopathy

Lab/Imaging Studies CBC/Sepsis evaluation

Chest x-ray

Oxygen Saturation (Arterial blood gas, pulse oximetry)

Hyperoxia test

Electrocardiogram

Echocardiography

Hyperoxia test- Cardiac or Pulmonary?

50-150mm Hg Truncus Arteriosus

( No restricted pulmonary blood flow)

<50 mm Hg Tetralogy of Fallot, Tricuspid Atresia

( Reduced pulmonary flow)

<150 mm HgCardiac disease or PPHN (SHUNT)

>150mm HgPulmonary disease (V/Q mismatch)

On 100% oxygenpaO2

Case Presentation

Case PresentationHistory:

6 week old male with 2 days of clear, nasal congestion, no fever

Gets bluish after feeding or crying

Previously well, full-term baby

The family history was negative

Case Presentation cont’dPhysical:

Vigorous male, growing appropriately

HR = 135, RR = 30, normal BP, no fever

Clear nasal discharge

Lungs clear to auscultation b/l, no wheezes, ronchi, rales

Case Presentation cont’d Purplish lips, hands and feet

Grade III/VI systolic murmur loudest at lower left sternal border

Liver was 1.5 cm below right costal margin and a normal spleen

Peripheral pulses equal in upper/lower extremities, 1.5 sec cap refill

Work Up:

Case Presentation cont’d

PaO2 of 38mm Hg and a hyperoxia test showed increase to 48mm Hg

Electrocardiogram showed RVH

Chest X-ray:

WHATS THE DIAGNOSIS?

Case Presentation cont’d Tetralogy of Fallot

IV antibiotics b/c of age and possible sepsis

Echocardiogram

Cardiac Catheterization and plan surgery