Clinical presentation, natural history, and outcome of patients with the absent pulmonary valve syndrome

Abstract

So-called 'absent pulmonary valve syndrome' is a rare cardiac malformation, usually associated with tetralogy of Fallot. Congenital absence of the leaflets of the pulmonary valve is less common when the ventricular septum is intact. Characteristic features of the syndrome include dysplasia or absence of the pulmonary valvar leaflets, permitting severe pulmonary regurgitation, and aneurysmal dilation of the pulmonary arteries. The purpose of our study was to review our experience with patients diagnosed as having the absent pulmonary valve syndrome, and to describe their clinical presentation, natural history, and outcome. We reviewed retrospectively data from 18 patients with absent pulmonary valve syndrome, 10 boys and eight girls, treated between March 1983 and May 2003. We identified two groups of patients, one made up of 11 patients with a ventricular septal defect, in whom the morphology of the subpulmonary outflow tract was phenotypic for tetralogy of Fallot, and another group, with seven patients, having an intact ventricular septum. Family history of congenital heart disease was common only in patients with ventricular septal defect, being found in 73%, all of whom were diagnosed during infancy with variable respiratory distress. Diagnosis was delayed in 43% of the patients with an intact ventricular septum. Cardiac surgery was performed in eight patients with ventricular septal defect (73%), compared to only two patients (28%) with an intact ventricular septum. Overall mortality was 28%, with five patients dying. Although our sample was small, two clinical patterns emerged depending on the presence or absence of a ventricular septal defect. Patients with a ventricular septal defect and phenotypic features of tetralogy of Fallot have a strong family history of congenital cardiac disease, develop respiratory symptoms during infancy and exhibit a variable prognosis, despite cardiac surgery. Patients with an intact ventricular septum are usually asymptomatic, present later in life, and show a relatively benign prognosis.

Cardiovascular magnetic resonance in a pregnant patient with absent pulmonary valve syndrome

“…The syndrome may be associated with other congenital heart diseases, such as ventricular septal defect, tetralogy of Fallot, and pulmonary branching abnormalities [2]. Patients with an intact ventricular septum appear to present later in life, and show a relatively benign prognosis [3]. Correction of the syndrome consists of placing a valved conduit in the pulmonary position (in this case report: a homograft), reduction arterioplasty of the branch pulmonary arteries and correction of associated lesions.…”

Importance of Absent Ductus Arteriosus in Tetralogy of Fallot with Absent Pulmonary Valve Syndrome

“…Absent pulmonary valve syndrome with ventricular septal defect (also known as TOF with absent pulmonary valve) is commonly associated with absence of the DA. 1,2 Conversely, when the ventricular septum is intact, the DA is usually present. [3][4][5][6] The absence of the DA has a role in the pathogenesis of APVS.…”

Prolonged Postsurgical Survival Without a Pulmonic Valve: Case Report and Review of the Literature

“…2 There is only a limited number of reports of patients with PR due to lack of pulmonic valve and it is reported primarilyin conditions such as absent pulmonic valve syndrome (APVS) or congenital absence of the pulmonic valve. 3,4 Most cases of PR without prior pulmonic valve surgery are congenital and symptoms usually depend on the presence of associated cardiac defects and severity of regurgitation. In addition to expected signs and symptoms of right heart failure, respiratory difficulty may develop in the pediatric patient due to dilation of the pulmonary arteries, which can compress the bronchi, especially the left main stem bronchus.…”

“…In addition to expected signs and symptoms of right heart failure, respiratory difficulty may develop in the pediatric patient due to dilation of the pulmonary arteries, which can compress the bronchi, especially the left main stem bronchus. 3 In some patients with absent pulmonary valve syndrome, bizarre branching of the pulmonary arteries can develop causing impaired alveolar multiplication and the smaller intrapulmonary bronchi are compressed. At this point, relief of bronchus compression will not improve respiratory symptoms.…”