Unrepaired Tetralogy of Fallot with Absent Pulmonary Valve in a Mildly Symptomatic 16-Year-Old Boy

Abstract

T etralogy of Fallot (TOF) with absent pulmonary valve (PV) is a severe congenital heart disease found in only 3% to 6% of TOF patients.1 Survival into young adulthood, especially without repair, is quite rare. The median age at time of repair ranges from 9 months to 1.4 years.2,3 Even with repair during infancy, postoperative mortality rates range from 11% to 30%, and the 20-year survival rate is only 81%.2 We present the case of a patient with only mild symptoms who underwent surgical repair for this combined condition as an adolescent. Case ReportIn January 2015, a 16-year-old boy with no surgical history presented after the detection of a murmur. He and his parents were from Mexico, where his parents had been told that their son had a grave cardiac condition. Because of mortality rates said to exceed 50% in Mexico, they had been urged not to pursue surgical correction.The parents had noted no issues with their son's growth, development, or respiratory capabilities throughout his childhood and most of his adolescent years; he merely tired more rapidly than his peers and had occasional fluttering in his chest. He was taking no medications.On examination, the patient was acyanotic and in no distress. His pulse rate was 75 beats/min; blood pressure, 107/68 mmHg; and oxygen saturation, 100% on room air. For his age, his weight was in the 33rd percentile and his height in the 53rd. Cardiac examination revealed strong, symmetric pulses bilaterally; a grade 4/6 holosystolic murmur at the left upper sternal border with radiation throughout the thorax; and a 3/6 diastolic murmur at the left sternal border. The patient had no hepatomegaly or peripheral edema. A chest radiograph showed moderate cardiomegaly and dilation of the pulmonary artery (PA) (Fig. 1).A 2-dimensional transthoracic echocardiogram revealed severe pulmonary regurgitation and stenosis (Fig. 2). The main PA was dilated to 5.13 cm (Z score, 9.37) and the left PA to 3.72 cm (Z score, 10.36). The PV leaflets were extremely rudimentary, consistent with the physiology of TOF with absent PV (Fig. 3). The right ventricle was severely dilated with mildly reduced systolic function; left ventricular size and function were preserved. There was no pulmonary hypertension. The tricuspid regurgitation jet was 14 mmHg with a normal septal contour. A large, nonrestrictive ventricular septal defect had predominantly left-to-right flow. The PA enlargement was confirmed on cardiac magnetic resonance images (Figs. 4 and 5), which also revealed normal coronary anatomy and an extremely elevated right ventricular enddiastolic volume of 207.2 mL.

Surgical Treatment of Tetralogy of Fallot with Pulmonary Valve Agenesis in a 22 Years Old Patient

“…Saygi reported a case of a woman diagnosed at 30 years old with respiratory symptoms caused by bronchial compression [7]. Diana reported, as in our case, a 16-year-old patient with no respiratory signs associated with bronchial compression [8]. Affangla also described a case of a 24-year-old patient who had been symptomatic since the age of 12 but had no major signs of bronchial compression [9].…”

“…In the case reported by Diana E. et al the patient also benefited from a transannular reconstruction and implantation of a 27 mm bioprosthesis pulmonary valve. The plication of the pulmonary arteries was not performed despite their aneurysmal dilatation [8]. There is less agreement, however concerning the method of RVOT reconstruction.…”

Ascites in an uncorrected tetralogy of Fallot with pulmonary valve absence in an adult patient

“…Typically, these patients present with early-age cyanosis, recurrent respiratory distress and failure to thrive, or heart failure. 3 The aim of this article is to present a case of uncorrected tetralogy of Fallot with absent pulmonary valve in a 37-year-old patient.…”

“…The survival of uncorrected tetralogy of Fallot with the absence of pulmonary valve in young adulthood is uncommon. Typically, these patients present with early-age cyanosis, recurrent respiratory distress and failure to thrive, or heart failure 3 …”