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Chapter 33<br />

Doppler Echocardiography<br />

for Managing Congenital Cardiac Disease<br />

Dev Maulik<br />

Introduction<br />

Fetal cardiac development is regulated by various genetic<br />

and environmental influences. Aberrations in<br />

these developmental mechanisms result in structural<br />

and functional abnormalities of the fetal heart. There<br />

has been a greater recognition of the need for antepartum<br />

diagnosis of these disorders in recent years.<br />

Perinatal diagnosis and management of congenital<br />

cardiac disease in conjunction with advances in pediatric<br />

cardiac surgery has led to remarkable improvements<br />

in the outcome in these infants. An essential<br />

component of this approach is the reliable prenatal<br />

diagnosis, which permits planning and implementation<br />

of appropriate perinatal management.<br />

Although high-resolution two-dimensional (2D) dynamic<br />

imaging remains the foundation of fetal echocardiographic<br />

assessment, the Doppler modality constitutes<br />

an essential component of this process by<br />

providing hemodynamic insight into the morphologic<br />

and functional aberrations of the fetal heart. With the<br />

advent of real-time three-dimensional (3D) echocardiography,<br />

there are exciting possibilities for prenatal<br />

cardiac assessment including Doppler echocardiography.<br />

In the previous chapter, we reviewed the scope<br />

and technique of Doppler echocardiography and normative<br />

information on fetal cardiac hemodynamics,<br />

while the next chapter, which is a new addition to<br />

this edition, deals with real-time 3D echocardiography<br />

of the human fetus. In this chapter, we review<br />

the risk factors for congenital cardiac disease, the<br />

common indications for fetal cardiac evaluation, and<br />

the application of Doppler echocardiography in managing<br />

malformations and dysrhythmias of the fetal<br />

heart.<br />

Risk Factors and Indications<br />

for Fetal Cardiac Evaluation<br />

Congenital cardiac disease, as diagnosed clinically,<br />

has a prevalence of approximately 8 cases per 1,000<br />

live births [1]. The rate of critical cardiac malformations<br />

requiring early therapeutic and surgical intervention<br />

has been reported to be 3.5 per 1,000 live<br />

births [2]. The risk of cardiac malformations is increased<br />

in many conditions (Table 33.1). When these<br />

risk factors are present, prenatal counseling and diag-<br />

Table 33.1. Risk factors for congenital heart disease<br />

Familial<br />

History of congenital cardiac disease<br />

Genetic syndromes (Mendelian)<br />

Noonan<br />

Tuberosus sclerosis<br />

Marfan<br />

Holt-Oran<br />

TAR (thrombocytopenia with absent radii)<br />

Maternal<br />

Congenital heart disease<br />

Teratogenic exposure<br />

Anticonvulsants ± phenytoin, trimethadione, valproic<br />

acid<br />

Lithium<br />

Amphetamines<br />

Retinoic acid<br />

Alcohol<br />

Nonteratogenic exposure<br />

Indomethacin<br />

Maternal infection<br />

Viral ± rubella, cytomegalovirus, coxsackievirus, mumps<br />

Parasitic ± toxoplasmosis<br />

Metabolic disease<br />

Diabetes mellitus<br />

Phenylketonuria<br />

Autoimmune disease<br />

Obstetrical<br />

Polyhydramnios<br />

Fetal<br />

Suspicion of cardiac malformation in basic fetal scan<br />

Abnormal fetal cardiac rhythm<br />

Extracardiac malformation<br />

Increased nuchal translucency<br />

Chromosomal disorders<br />

Down's syndrome<br />

Trisomy 13, 18<br />

Turner's syndrome<br />

Genetic syndromes<br />

Fetal growth restriction<br />

Nonimmune hydrops<br />

Situs inversus and ambiguous

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