Pulmonic Valvular Stenosis
Until the 1950s, isolated pulmonary stenosis was considered to be a rare congenital abnormality.1 A review of the literature in 1949 yielded just 68 cases. However, as physiologic testing has improved, this condition has been more frequently recognized.
Pulmonary valve stenosis (PVS) is described as those lesions that collectively are associated with obstruction to right ventricular outflow. PVS may be valvular, subvalvular, or supravalvular. PVS is the cause of isolated right ventricular outflow obstruction in 80% of cases.2
The pulmonic valve develops between the 6th and 9th week of gestation. Normally, the pulmonic valve is formed from 3 swellings of subendocardial tissue called the semilunar valves. These tubercles develop around the orifice of the pulmonary tree. The swellings are normally hollowed out and reshaped to form the 3 thin-walled cusps of the pulmonary valve.
Failure to develop normally can result in the following malformations: fusion of 2 of the cusps, 3 leaflets that are thickened and partially fused at the commissures, or a single cone-shaped valve. In Noonan syndrome, tissue pads within the sinuses interfere with the normal mobility and function of the valve.
The most common pathology is valvular pulmonic stenosis, which accounts for more than 80% of cases of pulmonary stenosis. Most cases are isolated valvular conditions, but they may be associated with a ventricular septal defect or secondarily lead to right ventricular infundibular hypertrophy.3
Isolated infundibular or subvalvular pulmonic stenosis is less common and is usually associated with a ventricular septal defect.
Most cases are congenital and sporadic. PVS is not understood to have significant inheritance, but its concordance among siblings is higher than would be expected. Rarely, pulmonic stenosis is associated with recessively transmitted conditions such as Laurence-Moon-Biedl syndrome. Isolated pulmonic stenosis has been reported in association with trisomy 21, and infundibular stenosis has been associated with trisomy 18, 15, and 13. In patients with Noonan syndrome, pulmonic stenosis, classically with dysplastic valves, can be present. Additionally, in the congenital rubella syndrome, supravalvular pulmonic and pulmonary artery branch stenoses are frequently present.
Acquired valvular disease is rare. The two most common etiologies are carcinoid and rheumatic fever.
PVS accounts for 10% of cases of congenital heart disease. Prevalence of pulmonary stenosis is 8-12% of all congenital heart defects. Isolated PVS with intact ventricular septum is the second most common congenital cardiac defect. PVS may occur in as many as 30% of all patients with congenital heart disease when associated with other congenital cardiac lesions.
Much of what is known about the morbidity and mortality of PVS comes from the Natural History Study of Congenital Heart Defects and the Second Natural History Study of Congenital Heart Defects. The Natural History Study of Congenital Heart Defects included an initial cardiac catheterization and then follow-up for events over an 8-year period. The Second Natural History Study of Congenital Heart Defects reported on 16-27 years of follow up from the same cohort. The studies demonstrated that adverse outcomes directly relate to the right ventricular systolic pressure gradient.
Mild (<50 mm Hg) PVS is well tolerated. Trivial differences were noted in the frequency of electrocardiographic abnormalities, exercise tolerance, echocardiographic findings, and adverse cardiac outcomes for those with pressure gradients less than 50 mm Hg. Of these patients, 94% were asymptomatic, without cyanosis or congestive heart failure.4, 5
Moderate to severe PVS (>50 mm Hg) can be associated with decreased cardiac output, right ventricular hypertrophy, early congestive heart failure (CHF), and cyanosis.
The impact of this valvular lesion on pregnancy and fetal outcomes has not been rigorously studied. A case-control study of 17 patients in 2007 suggested that there is no adverse impact on either the mother or the fetus.6
The male-to-female ratio is approximately 1:1.
PVS most commonly presents in newborns. It can be asymptomatic for years.
History of a heart murmur since birth
Dizziness or syncope, occasionally
Physical examination findings correlate with the severity of right ventricular outflow obstruction.
The first heart sound is normal and followed by a systolic ejection click. The systolic ejection click is variable with respiration and louder on expiration. It is loudest over the left upper sternal border.
Patients with dysplastic valves may not have a systolic ejection click.
The second heart sound is split. This is due to delayed closing of the pulmonic valve at the end of systole. The pulmonic component of the second heart sound may be diminished in intensity.
Systolic ejection murmur (crescendo-decrescendo), grade 2-5/6, is audible at the left upper sternal border, transmitting into the back and posterior lung fields. The murmur is heard best in the 1st to 3rd intercostal spaces.
Severity of valvular disease is related directly to the intensity and duration of the murmur. When severe, murmur extends into diastole (beyond the second heart sound).
Hepatosplenomegaly may develop in cases of CHF.
Severe PVS is associated with tricuspid insufficiency and may be associated with elevated central venous pressure, hepatosplenomegaly, a pulsatile liver, jugular venous pulsations, and hepatojugular reflux.
Murmur of peripheral pulmonary stenosis (commonly encountered in neonates) is a grade 2/6 systolic murmur that radiates into the posterior lung fields.
Pathology of peripheral pulmonic stenosis is secondary to the acute angular takeoff of the branch pulmonary arteries from the main pulmonary arteries specific to a neonatal anatomy. This condition and associated murmur usually resolve spontaneously in the first month of life.
Myocardial infarction of hypertrophied right ventricle may occur.
Prominent A wave of the jugular venous pulse is observed.
Tricuspid regurgitation occasionally is present.
The murmur usually radiates to the clavicles, the suprasternal area, and left neck. Radiation down the left sternal border is less common.
PVS primarily results from a maldevelopment of the pulmonic valve tissue and the distal portion of the bulbus cordis. One maldevelopment is characterized by fusion of leaflet commissures, resulting in a domed appearance to the valve. Other etiologies result in dysplastic valves, which do not open and close normally.
Coexisting cardiac malformations (eg, ventricular septal defect, atrial septal defect, patent ductus arteriosus) may complicate the anatomy, physiology, and clinical picture.
Aberrant flow patterns in utero also may be associated, in part, with maldevelopment of the pulmonary valve.
Rubella embryopathy may cause PVS.
Family history is a mild risk factor.7
Cases have been reported in the setting of Mayer-Rokitansky-Kuster-Hauser syndrome.8