Pediatric Tricuspid Atresia Clinical Presentation

Updated: Jan 17, 2017
  • Author: Syamasundar Rao Patnana, MD; Chief Editor: Howard S Weber, MD, FSCAI  more...
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Symptoms of tricuspid atresia manifest early in life. Nearly one half of patients have symptoms on first day of life, and 80% are symptomatic by the first month of life. The clinical features largely depend on the magnitude of pulmonary blood flow. The 2 known presentations are decreased pulmonary blood flow and increased pulmonary blood flow. [18, 33, 41, 59]

Cyanosis occurs in the first few days of life in infants with pulmonary oligemia. The lower the pulmonary flow, the earlier the infant becomes cyanotic. Hyperpnea and acidosis are also present if the pulmonary blood flow is markedly decreased. Most infants have the type Ib defect. If pulmonary atresia is present (subgroup a), early cyanosis appears as the ductus begins to close. Hypercyanotic episodes are not common in the neonate but can be present later in infancy.

Patients with pulmonary plethora present with symptoms of dyspnea, fatigue, difficulty feeding, and perspiration, which are suggestive of congestive heart failure. Cyanosis is minimal if present. Other presenting symptoms include failure to thrive and recurrent respiratory tract infection. Most symptoms develop within several weeks of life, although patients occasionally present in the first week of life. Most patients have type IIc (ie, transposition without pulmonary stenosis, but with ventricular septal defect [VSD]); some have type Ic (ie, normally related great arteries and no pulmonary stenosis and a large VSD).

Coarctation of the aorta may be present in patients with a type II defect; in these patients, the onset of cardiac failure is early.

Patients with rare, late-appearing cyanosis may present with exercise intolerance and a cardiac murmur.


Physical Examination

The physical findings for pulmonary oligemia and pulmonary plethora are discussed separately.

Pulmonary oligemia

Patients with pulmonary oligemia may have central cyanosis, tachypnea or hyperpnea, normal pulses, and prominent a waves in the jugular venous pulse (in the presence of clinically significant interatrial obstruction). No hepatomegaly is observed. A quiet precordium and no thrills are found on palpation.

Upon auscultation, the second heart sound is single, and a holosystolic type of murmur at the lower sternal border, suggestive of VSD, is heard. Diastolic murmurs are usually not heard. In patients with pulmonary atresia, the holosystolic murmur is not present, and a continuous murmur of patent ductus arteriosus is occasionally heard.

Clinical signs of heart failure are not observed.

Pulmonary plethora

Patients with pulmonary plethora usually have tachypnea, tachycardia, minimal cyanosis (if any), decreased femoral pulse (if aortic coarctation is present), prominent neck venous pulsations, and hepatomegaly.

Prominent a waves in the jugular veins and/or presystolic hepatic pulsations may be observed if interatrial obstruction is severe. Increased and hyperdynamic precordial impulses may be palpated.

The second heart sound may be single or split, and a third heart sound at the apex may be heard. Additional auscultatory findings include holosystolic murmur of VSD at the left lower sternal border and middiastolic rumble at the apex.

Clinical signs of congestive heart failure are usually evident.

Other modes of presentation

Problems related to chronic cyanosis, such as clubbing, polycythemia, relative anemia, stroke, brain abscess, coagulation abnormalities, and hyperuricemia, [60] are similar to those observed in other cyanotic congenital heart defects. The risk for bacterial endocarditis is similar to that for other cyanotic cardiac defects.

Atrial arrhythmias (flutter and/or fibrillation) may be observed in older children and adolescents with long-standing cyanosis, a systemic-to-pulmonary artery shunt, or left ventricular volume overloading or in those who previously underwent a classic Fontan operation.

Tricuspid atresia - associated syndromes

Tricuspid atresia may be associated with cat's-eye syndrome, Christmas disease, and asplenia syndrome.

Extracardiac anomalies

Extracardiac anomalies often involving GI or musculoskeletal systems may be present in as many as 20% of patients, as observed in the New England Regional Infant Cardiac Program.