History and exam
Key diagnostic factors
common
pathological systolic ejection murmur with or without a systolic click
Usually loudest on auscultation over left upper sternal border.
Loudness of murmur is not always related to severity, but length of murmur, splitting and intensity of S2, and timing of ejection click (the earlier, the more stenotic) is related to severity of PS.
In severe/critical PS there is usually a long and harsh murmur peaking later in systole; however, in critical PS, the murmur may be soft due to poor cardiac output.
Auscultation sounds: Pulmonary stenosis
Other diagnostic factors
uncommon
rheumatic fever
Risk very low as pulmonary valve rarely involved.
dyspnoea
With/without exertion in severe PS.
Develops due to limited pulmonary blood flow and right heart failure.
fatigue
With exertion in severe PS.
Develops due to limited pulmonary blood flow and right heart failure.
chest pain
With exertion in severe PS.
syncope
With exertion in severe PS.
Results from reduced pulmonary blood flow, which can decrease cardiac output due to limited pulmonary venous return.
Occurs in patients without a right-to-left shunt (who have inspired the phrase 'better blue than grey'); requires urgent referral for PS treatment.
dysmorphic features of Noonan syndrome
Growth retardation; typical facies: down-slanting or wide-set eyes, low-set or abnormally shaped ears, sagging eyelids (ptosis); delayed puberty with undescended testicles; pectus excavatum; webbed and short-appearing neck.
dysmorphic features of Noonan syndrome with multiple lentigines
Growth retardation; lentigines; ocular hypertelorism, abnormal genitalia (usually cryptorchidism or unilateral testis); retarded growth.
dysmorphic features of Williams syndrome
Microcephaly (30%); typical facies: short upturned nose, flat nasal bridge, long philtrum, flat malar area, wide mouth, full lips, dental malocclusion/widely spaced teeth, micrognathia, stellate irides, peri-orbital fullness; hypoplastic nails, lax skin; musculoskeletal: joint hyperelasticity, hallux valgus, contractures, kyphoscoliosis, lordosis.
dysmorphic features of Alagille's syndrome
Growth retardation; typical facies: broadened forehead, pointed chin, and elongated nose with bulbous tip.
failure to thrive
Infants with severe or critical disease may present with failure to thrive.
cyanosis
Detected in lips and fingers.
Only present in patients with a right-to-left shunt at the atrial level via an atrial septal defect.
Exaggerated by limited blood flow to the pulmonary vascular bed.
May occur at any age but is most frequent in newborns with critical or severe PS; not reliable for assessment of severity.
signs of right heart failure
Jugular venous distension, peripheral oedema, pleural effusion, ascites, and hepatomegaly.
right ventricular heave
Noted in the left parasternal and xiphoid region in severe or critical PS.
systolic thrill
Noted on palpation along the left upper sternal border in severe or critical PS.
Risk factors
strong
Noonan syndrome
Up to 27% have isolated PS, often due to dysplastic pulmonary valve.[1]
Noonan syndrome with multiple lentigines
Frequent finding but usually mild and asymptomatic.
Alagille syndrome
About 85% have peripheral PS.
Williams syndrome
About 50% have significant cardiac lesion, including severe PS, supravalvar aortic stenosis, or mitral valve regurgitation.
congenital rubella syndrome
Occasional finding; other cardiac defects include septal defects and patent ductus arteriosus.
weak
black ethnicity
Increased rate of peripheral PS (5.35 versus 2.45 per 10,000 live births) and a statistical trend towards a higher incidence of valvar PS (4.48 versus 3.46 per 10,000 live births) compared with white people.[10]
carcinoid syndrome
About 50% of patients with carcinoid syndrome have some cardiac involvement of the right-sided valves; half of these have some degree of PS.[11]
infectious endocarditis
PS is an occasional finding.
myocardial tumours
PS is an occasional finding.
external compression
PS is an occasional finding if there is compression from an external lesion such as a neoplasm.
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