Pulmonary Stenosis, Noonan, Watson, Alagille Syndromes Flashcards
What are the clinical signs of pulmonary stenosis?
A. Inspection
- Syndromes and surgical scars indicating congenital heart surgery
- Raised JVP with giant a waves (right heart failure)
- Cyanosis
- Possible AF
B. Palpation
- Left parasternal heave (right ventricular heave)
- Thrill in pulmonary area
C. Heart sound and murmur
- Mid systolic crescendo-decrescendo murmur (MSM) over pulmonary area +/- ejection click
- Radiates to suprasternal notch, axilla or back
- Louder on inspiration (distinguish from AS)
- Widely split second heart sound (S2)
- Quiet P2
- S4 heart sound
- PR murmur - previous valvuloplasty
- TR murmur (PSM over LLSE) with cv wave, parasternal thrill - functional TR
D. Complications
- Right heart failure - elevated JVP and peripheral oedema, without APO
- No infective endocarditis
What signs are suggestive of severe PS?
- Large “a” waves (in SR)
- Long systolic murmur with late systolic peak
- Earlier to absent of ejection click
- Wider split of S2 - P2 occurs significantly later due to prolonged RV emptying
- Soft or absent P2
- S4 - forceful atrial contraction
- Functional TR
Describe this heart sound
Why does ESM of severe PS “extends into” early diastole?
ESM with single S2 - PS
Murmur of severe PS terminates with closure of P2
- But often P2 is not heard, and only A2 is heard
- PS murmur extends beyond A2 thus appears that it is extended into diastole
What are the causes of pulmonary stenosis?
Valvular stenosis
1. Congenital
2. Carcinoid syndrome - cardiac valve fibrosis
3. Noonan’s syndrome
4. Other syndromes: Watson, Alagille
5. Infective endocarditis (bulky vegetation)
6. Rheumatic heart disease (very rare)
Supravalvular stenosis
6. Congenital rubella
7. William’s syndrome
Subvalvular stenosis
8. TOF
9. Obstructing tumours
How common is (epidemiology of) pulmonary stenosis?
8-12% of all congenital heart disease in children
15% of all congenital heart disease in adults
How would you investigate a patient with pulmonary stenosis?
1. Electrocardiography
- RVH and strain (S1Q3T3)
- RAD
- RAH (p pulmonale)
2. CXR
- Post-stenotic dilation of main PA
- Diminished pulmonary vascular markings
- Apex lifted off left hemidiaphragm
3. TTE
- Thickened pulmonary valve with restricted opening
- Dilatation of main pulmonary artery
- RV size and function - RVH
- Evaluate other congenital heart defects
4. TEE
- Delineate RV outflow tract, infundibular hypertrophy
How would you grade the severity of pulmonary stenosis via TTE?
- Trans-valvular gradient
- Mild: <50mmHg
- Moderate: 50-79mmHg
- Severe:>80mmHg - Valve area
- Mild > 1cm2
- Moderate 0.5 - 1cm2
- Severe < 0.5cm2
What may cause concomitant PR and PS?
- Previous balloon valvuloplasty
- Valvular calcification
How do you instruct patient to inhale and exhale to accentuate murmur?
Breathe in and out very slowly
(DO NOT HOLD) - closure of glottis reduces venous return and reduces intensity of right sided murmurs
How would you manage a patient with pulmonary stenosis?
- Endocarditis prophylaxis
- Mild and moderate: often require follow-up only
- Severe:
- Balloon valvuloplasty
- Percutaneous valve repair or replacement
- Surgical replacement
What is the significance of parasternal heave?
Right ventricular pressure overload
What may cause cyanosis in PS?
Presence of shunt - ASD or VSD or PFO
- Right ventricular hypertrophy and elevated RV systolic pressure may eventually lead to Eisenmenger’s syndrome
-> shunt reversal with right-to-left shunting resulting in cyanosis
How would you differentiate AS vs PS?
What other murmur can be present and heard loudest and left upper sternal edge (pulmonary area)?
How to differentiate between ASD and PS
Atrial septal defect
- Fixed splitting of S2 (delayed PV closure unchanged with inspiration)
- Mid systolic murmur at upper left sternal border
- Large left-to-right shunt may cause functional TS
What is Noonan’s syndrome?
Autosomal dominant condition in chromosome 12 (rarely sporadic)
- Male phenotypic form of Turner’s syndrome, but with normal karyotype (XX or XY)
- PTPN11 gene -> SHP2 product defect leading to defective semilunar valve development
Manifestating as right sided cardiac lesions including pulmonary stenosis, ASD, VSD
(In contrast with Turner’s which causes left sided cardiac lesions)
