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Syndromes and Chromosomal Anomalies

A large number of syndromes, dysplasias, and chromosomal anomalies are associated with congenital or acquired cardiac and vascular disease. This chapter discusses the cardiovascular features of some of the more commonly encountered lesions. A more extensive list is provided in Tables 78.1 to 78.3 later in this chapter. Syndromes Situs and Cardiosplenic (Heterotaxy) Syndromes Overview. The heterotaxy syndromes, comprising right and left isomerism, feature abnormalities of…

Coronary Artery Disease in Children

The author would like to acknowledge Frandics Chan, MD, PhD, for his contributions to prior editions of this chapter. Coronary artery disease in children can be acquired, but the majority of anomalies are congenital. Among acquired coronary abnormalities, Kawasaki disease (KD) is the most common. Other causes include sequelae from trauma, vasculitides, radiation injury after oncologic treatment, and rare cases of familial hyperlipidemia and idiopathic infantile…

Congenital Anomalies of the Thoracic Great Arteries

This chapter covers congenital anomalies of the great arteries that result in a vascular ring or sling. Overall, anomalies of the aortic arch and the cervical vessels are relatively common, with an estimated prevalence of 0.5% to 3%. They can be understood as the result of abnormal persistence and/or regression of branches in the totipotential arch, which is derived from the theoretical double aortic arch proposed…

Conotruncal Anomalies

Conotruncal anomalies are a group of congenital heart defects involving the outflow tracts of the heart. The conotruncal anomalies include tetralogy of Fallot (TOF), transposition of the great arteries (TGA), double-outlet ventricles, truncus arteriosus, and interrupted aortic arch (IAA) type B. Conotruncal abnormalities are the result of abnormal division or rotation of the primitive truncus during embryologic development. The common outlet of the embryonic univentricular heart…

Right Heart Lesions

Imaging of the Right Heart The algorithms used for left ventricular assessment cannot always be applied to the right ventricle (RV), which differs in morphology, shape, and function. The RV has a complex geometrical shape with a thinner and more trabeculated myocardium than the left ventricle (LV). The chest x-ray is a preliminary imaging tool, with the lateral view best suited to detect RV enlargement. Echocardiography…

Left Heart Lesions

Hypoplastic Left Heart Syndrome Overview. Hypoplastic left heart syndrome (HLHS) is a spectrum of disease characterized by underdevelopment of the left ventricle with obstruction or atresia of ventricular inflow and outflow. HLHS accounts for approximately 2% to 3% of all cases of congenital heart disease, with a slight male predominance. HLHS is most commonly isolated, but extracardiac anomalies occur in up to 30% and a variety…

Systemic to Pulmonary Arterial Shunts

Atrial Septal Defect Overview. An atrial septal defect (ASD) is a defect in the atrial septum that allows communication between the right atrium (RA) and left atrium (LA). Isolated ASDs account for 6% to 10% of all congenital heart disease. Etiology. Two primary types of ASDs occur and are classified by their relationship to the fossa ovalis ( Fig. 72.1 ). Secundum-type defects (80%–90% of all…

Abnormal Pulmonary and Systemic Venous Connections

Partial Anomalous Pulmonary Venous Connection and Scimitar Syndrome Overview. Partial anomalous pulmonary venous connection (PAPVC) is present when one or more pulmonary veins drain into a systemic vein. Because a single anomalous connection may be unrecognized, the incidence is difficult to establish, but it has been reported to be present in 1 in 200 postmortem examinations. Etiology, Pathophysiology, and Clinical Presentation. All pulmonary veins from one…

Prenatal Imaging and Therapy of Congenital Heart Disease

Introduction Congenital abnormalities of the heart are the most common birth defects, occurring in approximately 8 of every 1,000 newborns. Approximately 25% of those in whom an abnormality is identified have critical congenital heart disease (CHD) with risk for significant perinatal compromise or death. Despite advances in imaging technology and technique, much CHD remains undetected until after birth. Fortunately, routine prenatal cardiac screening has evolved from…

Surgical Considerations for Congenital Heart Disease

Congenital cardiac defects may be categorized in a variety of ways. One approach is to separate them based on the presence or absence of cyanosis at the time of presentation. Cyanotic lesions are either associated with shunting of deoxygenated blood into the systemic arterial circulation or with severely reduced pulmonary blood flow. These lesions include transposition of the great arteries, tetralogy of Fallot (TOF), truncus arteriosus,…

Pediatric Cardiac Catheterization and Electrophysiology

Pediatric Cardiac Catheterization Introduction Pediatric cardiovascular catheterization laboratories today involve a variety of complex diagnostic and interventional procedures for congenital abnormalities using multiple imaging tools to improve procedural outcome and patient safety. Preprocedure imaging to map the complex anatomy is more routinely performed, including modalities such as computed tomography (CT), cardiac magnetic resonance imaging (cardiac MRI), and three-dimensional (3D) model creation to plan the interventional procedure.…

Magnetic Resonance Imaging for Congenital Heart Disease

Acknowledgment: The editors and the publisher would like to thank Drs. Sadaf T. Bhutta and S. Bruce Greenberg for contributing a chapter on this topic to the prior edition of this work. It has served as the foundation for the current chapter. Cardiac magnetic resonance imaging (MRI) has become integral in the evaluation, treatment planning, and posttreatment surveillance of congenital and acquired heart disease. Although echocardiography…

Pediatric Cardiothoracic Computed Tomographic Angiography

Remarkable advances have occurred in noninvasive imaging evaluation of pediatric cardiothoracic vascular disorders. One such technologic advancement is multidetector array computed tomography angiography (CTA). CTA has become a primary imaging consideration for structural cardiovascular evaluation beginning as early as the newborn period. Attention to technique is fundamental for pediatric CTA. Without optimal or at least sufficient technical performance, diagnostic capabilities may be limited. This technical aspect…

Chest Radiography in Pediatric Cardiovascular Disease

The role of chest radiography in the diagnosis and evaluation of congenital cardiovascular disease continues to evolve. At one time a major tool in the assessment of heart disease, radiography now occupies an ancillary role, with echocardiography serving as the major primary investigation after physical examination, especially in the neonatal period. However, the chest radiograph still may provide the first indication of unsuspected cardiovascular disease, and…

Cardiovascular Anatomy and Segmental Approach to Imaging of Congenital Heart Disease

Because of the large variety of human hearts in nature, a standardized approach and nomenclature is needed to understand and describe cardiac anatomy and physiology in the setting of congenital heart disease. The most widely used approach is called the segmental approach to heart disease, first proposed by Richard Van Praagh in 1972 and later modified by others. It is strongly rooted in embryologic principles, and…

Introductory Embryology

Cardiac Development The major task in cardiac development is to form a four-chambered heart that functions in a coordinated fashion from a straight tube that functions merely by peristalsis. Cardiac development can be thought of as proceeding along various phases: fusion of myocardium and endocardium in the ventral midline to form a simple tube, onset of function, looping to the right side, specification and formation of…

The Diaphragm

Overview The diaphragm is a dome-shaped musculofibrous membrane that separates the thoracic and abdominal cavities and performs an important respiratory function. The diaphragm has a fibrous portion centrally (i.e., a central tendon) surrounded by a peripheral muscular portion. Major structures pass through three openings: caval (inferior vena cava and some right phrenic nerve branches), esophageal (esophagus, vagal nerves, and small esophageal arteries), and aortic (aorta, azygous…

The Pleura

The pleura is a serous membrane consisting of two layers, the visceral and the parietal pleura. The parietal pleura covers the inner aspect of the chest wall and the diaphragm. The visceral pleura is strongly adherent to the surface of the lungs and interlobar fissures. In normal conditions, no imaging study can visualize the pleural space because pleural membranes are only 0.2 to 0.4 mm thick, and…

The Chest Wall

The chest wall provides support and protection to the various thoracic vascular and nonvascular structures. In addition, it allows the important physiologic motion of the lungs and airways. The chest wall is less rigid and more cartilaginous in children than in adults and consists of several fundamental structural components, including bones (ribs, sternum, and vertebrae), nerves, muscles, vessels, and subcutaneous soft tissues. Within these structural components,…