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SUSPECTED CONGENTAL HEART DISEASE! When to refer to Cardiologist?!. Ali M El-Halabi MB,BS,MRCP,FRCP,FRCPCH Consultant Pediatric Cardiologist President of Pan-Arab Congenital Heart Disease Association (PACHDA). Impact of the problem. Prevalence of (CHD) at birth is 4 to 6 per 1000 live births

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suspected congental heart disease when to refer to cardiologist

SUSPECTED CONGENTAL HEART DISEASE!When to refer to Cardiologist?!

Ali M El-Halabi

MB,BS,MRCP,FRCP,FRCPCH

Consultant Pediatric Cardiologist

President of Pan-Arab Congenital Heart Disease Association (PACHDA)

ANF – Amman

08/05/09

impact of the problem
Impact of the problem
  • Prevalence of (CHD) at birth is 4 to 6 per 1000 live births
  • In preterm infants (gestational age <37 weeks), 12 per 1000 live preterm births.
  • Potentially life-threatening lesions in 15 percent of infants with CHD:
    • 62% diagnosed before discharge from the hospital
    • 8% diagnosed antenatally.
    • 25% diagnosed after discharge from the birthing hospital
    • 5% percent diagnosed after death

ANF – Amman

08/05/09

urgent referral
URGENT REFERRAL
  • Shock
  • Cyanosis
  • Pulmonary edema

ANF – Amman

08/05/09

shock
Shock
  • Diminished systemic output

- Ductus dependant- HLHS, critical AS

- Obstructed TAPVR

  • D/D : Severe systemic infection (sepsis, meningitis(

ANF – Amman

08/05/09

shock5
Shock

Cardiomegaly:

The sensitivity and specificity for the presence of cardiomegaly to predict cardiac disease were 85 and 95 percent, respectively, with a positive predictive value of 95 percent.

Pickert, CB, Moss, MM, Fiser, DH. Differentiation of systemic infection and congenital obstructive left heart disease in the very young infant. Pediatr Emerg Care 1998; 14:263.

ANF – Amman

08/05/09

cyanosis
Cyanosis

PDA dependant:

  • The PDA can be the only mechanism of pulmonary blood flow in patients with critically obstructive right heart lesions, such as critical pulmonary stenosis/atresia.
  • In the setting of critically obstructive left heart lesions, the PDA supplies a good portion of the systemic circulation. With ductal closure, these patients will be blue with decreased peripheral perfusion.
  • In transposition of the great arteries (TGA), PDA allows mixing between the otherwise parallel pulmonary and systemic circulations.

ANF – Amman

08/05/09

cyanosis7
Cyanosis

PDA non-dependant:

TAPVR and truncus arteriosus

PDA dependant or non-dependant:

Tetralogy of Fallot and tricuspid atresia

ANF – Amman

08/05/09

severe pulmonary edema
Severe pulmonary edema
  • Severe pulmonary edema,

Tachypnea ,increased work of breathing

Due to:

    • massive, rapid increase in pulmonary blood

flow associated with a fall in pulmonary vascular resistance (e.g. truncus arteriosus,

PDA in premature infants).

    • Obstruction of the pulmonary venous circulation (e.g. TAPVR with obstruction)

ANF – Amman

08/05/09

pre natal screening
Pre-Natal Screening
  • Sensitivity :0 - 80 % detection rates.
  • Operator experience
  • Gestational age
  • Maternal weight
  • Fetal position
  • Type of defect

ANF – Amman

08/05/09

lack of early findings before hospital discharge
Lack of early findings before hospital discharge
  • 1,067 babies with CHD who had a routine newborn examination:

876 (82%) not recognized to have CHD before hospital discharge. Of these undiagnosed infants, 306 (35%) became symptomatic or died without a diagnosis before six weeks of age.

  • Abnormalities were detected on the neonatal examination (usually cyanosis or a murmur) in 476 (45%), but only 170 were referred for diagnosis.
  • Routine examination of babies available at six weeks (the remainder became symptomatic or died) detected abnormalities in only 164 of 252 (65%).

Gregory, J, Emslie, A, Wyllie, J, Wren, C. Examination for cardiac malformations at six weeks of age. Arch Dis Child Fetal Neonatal Ed 1999; 80:F46.

ANF – Amman

08/05/09

lack of early findings before hospital discharge11
Lack of early findings before hospital discharge

So,

  • routine examinations of asymptomatic infants in the immediate newborn period and at six weeks of age failed to detect heart disease in more than one-half and one-third of affected infants, respectively
  • A normal examination did not exclude heart disease, including potentially lethal abnormalities.
  • Good prenatal care should not lull the practitioner into a false sense of security.
  • The clinician must remain vigilant to detect early signs and refer infants promptly to a pediatric cardiologist for definitive evaluation

Gregory, J, Emslie, A, Wyllie, J, Wren, C. Examination for cardiac malformations at six weeks of age. Arch Dis Child Fetal Neonatal Ed 1999; 80:F46.

ANF – Amman

08/05/09

suspicious signs symptoms
Suspicious Signs & Symptoms
  • Poor feeding: bottle feedings longer than 20 to 30 minutes, taking too little volume, resting frequently during feeds, or otherwise unexplained choking, gagging and/or frequent vomiting with feeds
  • Breathing too fast or hard, particularly increasing with feeds
  • Persistent unexplained cough or wheeze
  • Color changes: central cyanosis, persistent pallor, grey
  • Excessive sweating, even while sleeping, increasing with feeds and other exertion
  • Excessive, unexplained irritability
  • Decreased activity; increased or excessive sleeping
  • Poor weight gain

ANF – Amman

08/05/09

infants with severe lesions
Infants with severe lesions
  • Can deteriorate precipitously

Retrospective study -490 infants with critical heart disease (defined as CHD that required invasive intervention or resulted in death in the first 30 days of life)

  • 44% diagnosed prenatally .
  • Significant physiologic compromise (defined as severe metabolic acidosis, seizures, cardiac arrest, or laboratory evidence of renal or hepatic injury) occurred in 16% of the overall group.
  • There was no difference in the frequency of these events between infants diagnosed prenatally and those diagnosed postnatally.
  • The majority of these events occurred after 12 hours of age
  • The most common underlying cardiac lesion was aortic arch obstruction.

Schultz, AH, Localio, AR, Clark, BJ, et al. Epidemiologic features of the presentation of critical congenital heart disease: implications for screening. Pediatrics 2008; 121:751.

ANF – Amman

08/05/09

history
History
  • Maternal diabetes (TGA, ventricular septal defect (VSD), and hypertrophic cardiomyopathy )
  • Mothers with connective tissue diseases (CHB)
  • Congenital infections (cytomegalovirus, herpes virus, rubella, or coxsackie)
  • Drugs in pregnancy (PS or AS in fetal hydantoin syndrome,Ebstein's anomaly –lithium,ASD and VSD -fetal alcohol syndrome)
  • Family Hx ( mother>father- 4-50% , other anomalies)

ANF – Amman

08/05/09

cyanosis15
Cyanosis
  • ? Anemia,
  • ? dark skin
  • ? Mild cyanosis
  • Non cardiac causes ( pulmonary, hematologic, PHT, poor perfusion)

ANF – Amman

08/05/09

pulse oxymetry screening
Pulse oxymetry screening

Sensitivity & specificity depend on

  • Criteria used for an abnormal test - SaO2 <95: 0.75,0.88- SaO2 <90: 0.53, 1
  • Timing of screening ( ?1st hr,1st day…..)
  • Probe site- postductal
  • Quality of the equipment
  • Signal quality and infant behavior – crying,moving- not accurate
  • Health care workers expertise

ANF – Amman

08/05/09

oxymetry
Oxymetry
  • Postductal oxygen in 50,008 healthy Norwegian newborns upon admission to the nursery from the delivery unit :
    • The initial SaO2 was less than 95 percent in 3 % of patients. Of these 1360 newborns, 324 cases were classified as pathologic because of symptoms of disease or persistent SaO2 <95 percent.
    • Of the 324 infants who failed the pulse oximetry screen, 43 had CHD, of whom 27 had critical lesions, and 134 had pulmonary or other disorders. The remaining 147 patients were healthy with transitional circulation.
    • CHD was diagnosed in 658 patients as follows:
    •      -  Prenatal diagnosis: 46 cases      -  Pulse oximetry screening: 40 cases      -  Routine exam in the nursery: 320 cases      -  Post discharge: 74 cases      -  Diagnosis while in the neonatal or intensive care unit: 178 cases
    • Eight newborn infants with critical CHD were not detected by oxymetry screening, four of whom were detected by routine examination.

Meberg, A, Brugmann-Pieper, S, Due, R Jr, et al. First day of life pulse oximetry screening to detect congenital heart defects. J Pediatr 2008; 152:761.

ANF – Amman

08/05/09

oxymetry18
Oxymetry
  • ????Significant additional benefit of universal screening by pulse oxymetry to clinical assessment for the detection of CHD in infants admitted to the normal newborn nursery.
  • The cost/benefit ratio of a universal pulse oxymetry screening program remains unknown.
  • This was illustrated in a 2006 report from the Tennessee Task Force on Screening Newborn Infants for Critical Congenital Heart Disease, which recommended not implementing a mandatory screening program based upon the available literature . Their primary concerns were high rates of false-positive results (specificity), as discussed previously, and unreliability of oxymeter testing for mass screening

Liske, MR, Greeley, CS, Law, DJ, et al. Report of the Tennessee Task Force on Screening Newborn Infants for Critical Congenital Heart Disease. Pediatrics 2006; 118:e1250.

ANF – Amman

08/05/09

hyperoxia test
Hyperoxia Test
  • arterial blood gases not pulse oxymetry
  • Lung disease is more likely than CHD in cyanotic patients whose postductal arterial PO2 increases to >150 mmHg in a hyperoxia test.
  • Patients with cyanotic lesions such as TGA or severe pulmonary outflow obstruction typically have PaO2 <50 to 60 mmHg during hyperoxia.
  • In lesions with intracardiac mixing and increased pulmonary blood flow such as truncus arteriosus, PaO2 may increase to 75 to 150 mmHg.

ANF – Amman

08/05/09

acrocyanosis
Acrocyanosis
  • Refers to bluish color in the hands and feet and around the mouth (circumoral cyanosis). The mucus membranes generally remain pink-

benign vasomotor changes in the diffuse venous structures in the affected areas. It does not indicate pathology unless cardiac output is extremely low, resulting in cutaneous vasoconstriction

ANF – Amman

08/05/09

cardiovascular examination
CARDIOVASCULAR EXAMINATION
  • Precordial activity & site of apex beat
  • S2 splitting(??) , single S2
  • Other sounds ( clicks, rubs,S3)
  • Murmurs - 60 percent of newborns

Of 46 newborns with a murmur:

  • 13 normal hearts
  • 8 had normal hearts with physiologic findings that would account for a murmur (e.g. PDA or mild pulmonary artery branch stenosis).
  • 25 (54 %) cardiac malformations, all asymptomatic,

VSD 15,

Coarctation of the aorta 3,

Aortic valve stenosis 1,

Tetralogy of Fallot 3,

ASD 2,

Pulmonary stenosis 2.

ANF – Amman

08/05/09

innocent murmurs
Innocent Murmurs
  • Murmur intensity grade 2 or less, heard at left sternal border
  • Normal S2
  • No audible clicks
  • Normal pulses
  • No other abnormalities

ANF – Amman

08/05/09

signs that suggest chd
Signs that suggest CHD
  • Murmur intensity grade 3 or higher
  • Harsh quality
  • Pansystolic duration
  • Loudest at upper left sternal border
  • Abnormal S2
  • Absent or diminished femoral pulses
  • Other abnormalities

ANF – Amman

08/05/09

no murmur
No Murmur
  • In a study reported in 1963 of 166 infants diagnosed with CHD by 12 months of age at Texas Children's Hospital, no murmur was heard in the first three months in 77 percent .
  • In a contemporary report, 48 percent of patients diagnosed with CHD before 12 months of age did not have a neonatal murmur .

ANF – Amman

08/05/09

peripheral pulses
Peripheral pulses
  • Cool and/or mottled lower extremities

(D/D cutis marmorata)

  • 19 of 95 (20 percent) infants diagnosed with coarctation by 12 months of age were not diagnosed before 12 weeks of age.

Wren, C, Richmond, S, Donaldson, L. Presentation of congenital heart disease in infancy: implications for routine examination. Arch Dis Child Fetal Neonatal Ed 1999; 80:F49.

ANF – Amman

08/05/09

abnormal heart rate
ABNORMAL HEART RATE

Infants with heart rates that are too high or low should be referred for evaluation. ( normal heart rate up to six days of age is 90 to 160 beats per minute)

  • Sinus tachycardia - myocarditis, large left to right shunts, and other etiologies of heart failure .
  • Supraventricular tachycardia (SVT) may present as a fetal arrhythmia or in early infancy, infants with SVT should always be evaluated for structural heart defects.
  • Ventricular tachycardia may be associated with long QT syndrome, intracardiac tumors, cardiomyopathy and ventricular dysfunction
  • Bradycardia can be associated with long QT syndrome as well as congenital AV block .
  • A prolonged QTc has been correlated with sudden infant death syndrome . Screening of infants at high risk with family history of long QT syndrome, sudden infant death syndrome, or acute life threatening event has been advocated .

ANF – Amman

08/05/09

respiratory symptoms
Respiratory Symptoms
  • Cardiac causes:

increased venous pressure or volume load

Compression on trachea or bronchi

ANF – Amman

08/05/09

extra cardiac abnormalities
Extra cardiac Abnormalities
  • Skeletal
  • Chromosomal
  • Renal
  • GI

( Around 20%)

ANF – Amman

08/05/09

conclusions
Conclusions
  • Maternal, family and prenatal history has great value in suspecting CHD
  • Always take family’s complaints seriously
  • Proper cardiovascular examination remains the most important tool to suspect CHD, though even with meticulous examination some cases will be missed early on in life
  • Shock, cyanosis & pulmonary edema are ominous findings
  • Presence of extra cardiac malformations is important suspicious finding
  • Oxymetry screening seems to add only little
  • Hyperoxia test if done properly would have a good supportive role

ANF – Amman

08/05/09

slide30

THANK YOU

ANF – Amman

08/05/09