Aug. 03, 2019
When a 32-year-old, asymptomatic woman with history of tetralogy of Fallot presented at Mayo Clinic for evaluation of her congenital heart disease, Heidi M. Connolly, M.D., and colleagues with Cardiovascular Medicine at Mayo Clinic in Rochester, Minnesota, evaluated the woman and documented her case. The study was published in JAMA Cardiology in 2017.
The woman's surgical history consisted of a Blalock-Taussig shunt in early childhood and subsequent tetralogy of Fallot repair at age 3 years. On examination, venous pressure was visualized 4 cm above the clavicle at 45 degrees, with a prominent a wave. A parasternal lift was present. An electrocardiogram revealed sinus rhythm with a right bundle branch block and right ventricular diastolic volume index, quantitated by cardiac magnetic resonance, was 161 mL/m2.
"The physical examination findings observed with severe pulmonary regurgitation in tetralogy of Fallot may include elevated central venous pressure and a prominent a wave related to right atrial contraction into a noncompliant ventricle. Right ventricular enlargement manifests with a palpable parasternal cardiac impulse. A short systolic ejection murmur is often heard before the diastolic decrescendo murmur ― as it was in this case ― as the severity of pulmonary regurgitation increases," says Dr. Connolly. "Severe pulmonary regurgitation may be difficult to auscultate without careful attention to this murmur at the left upper sternal border."
In this case, the echo-Doppler findings paralleled the auscultatory findings, as demonstrated by the similarity between the continuous wave Doppler and spectral profile of the phonocardiogram.
"Continuous wave Doppler in severe pulmonary regurgitation shows the characteristic profile with short deceleration time and cessation of flow in mid diastole, owing to the rapid rise in right ventricular diastolic pressure and equalization with pulmonary artery diastolic pressure," says Dr. Connolly. "Color flow imaging can be misleading. Severe pulmonary regurgitation is often missed because the signal is rapid and brief owing to diastolic equalization of right ventricular and pulmonary artery pressure."
Diagnosis and treatment
The specialists considered alternative diagnoses and treatments, but in the setting of severe pulmonary valve regurgitation, the only appropriate treatment included observation or pulmonary valve replacement. Their diagnosis and treatment decision was pulmonary valve replacement for severe pulmonary regurgitation causing marked right heart enlargement.
"Pulmonary valve regurgitation is the most frequently encountered complication in adult patients with repaired tetralogy of Fallot," says Dr. Connolly. "Recognition requires integration of the physical examination findings and multimodality imaging. Surgery is indicated for severe pulmonary regurgitation when symptoms develop or, as in this case, in asymptomatic patients with evidence of marked right ventricular enlargement or dysfunction.
The patient underwent successful pulmonary valve replacement with a bioprosthesis. Right ventricular size was substantially reduced (by approximately 33% on average) with pulmonary valve replacement, and a right ventricular end-diastolic volume index threshold of less than 160 mL/m2 or right ventricular end-systolic volume index threshold of 82 mL/m2 was associated with normal right ventricular size postoperatively.
For more information
Newman DB, et al. Thirty-two-year-old woman with corrected tetralogy of Fallot. JAMA Cardiology. 2017;2:449.