Tricuspid Atresia Clinical Presentation

Updated: Sep 25, 2016
  • Author: Mary C Mancini, MD, PhD, MMM; Chief Editor: Richard A Lange, MD, MBA  more...
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Presentation

History

Tricuspid atresia is usually detected in infancy because of presenting cyanosis, congestive heart failure, and growth retardation. Parents provide a history of poor skin coloration (ranging from pallor to frank cyanosis), inability to complete a feeding session, frequent pauses during feeding, and/or frank anorexia. As a result, the infant demonstrates poor growth patterns. Respiratory difficulties are often reported as nasal flaring or muscle retractions. (See Medscape Reference article Pediatric Tricuspid Atresia.)

Bacterial endocarditis and brain abscess are common findings in patients with tricuspid atresia and should be considered in children with headaches, seizures, or neurologic deficits.

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Physical

On inspection, cyanosis is the most common clinical feature of this lesion. The degree of cyanosis depends on the degree of pulmonary blood flow. Infants with associated diminished pulmonary blood flow or infants who depend on a patent ductus arteriosus manifest pronounced cyanosis that worsens as the ductus begins to close. Patients with relatively normal or increased pulmonary blood flow manifest little cyanosis but more pronounced congestive heart failure. For related information, see Medscape's Heart Failure Resource Center.

Digital clubbing is common in infants older than 3 months. Jugular venous pulsations and distention are common.

The peripheral pulses and pulse volume may be decreased, normal, or increased. The left ventricular impulse is prominent because of volume overload. The apical impulse is hyperdynamic, with displacement to the left of the midclavicular line. A thrill may be felt at the left sternal border in patients with a restrictive ventricular septal defect or pulmonary valve stenosis. The liver may be large and pulsatile.

A single first heart sound that may be increased in intensity is usually present. The second heart sound may be single or normally split. The intensity of this sound varies, depending on associated transposition of the great vessels. In normally related great vessels, the second heart sound may be of normal intensity. In transposed great vessels, the second sound is diminished. Cardiac murmurs are present in 80% of patients with tricuspid atresia. A holosystolic murmur that may have a crescendo and decrescendo quality is present, signifying blood flow through the ventricular septal defect. A continuous murmur may be present. Systemic-to-pulmonary arterial collaterals or arterial-to-pulmonary arterial anastomoses surgically created to improve pulmonary blood flow may cause this finding. A murmur of mitral insufficiency may also be present.

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Causes

The cause is unknown. Although specific genetic causes of the malformation remain to be determined in humans, the FOG2 gene may be involved in the process. Mice in which the FOG2 gene is knocked out are born with tricuspid atresia. The significance of this finding and its applicability in humans requires further investigation.

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