40 year old male, works on a lobster fishing boat. Generally fit but noticed a bit more fatigue in the last year. Mild breathlessness when pulling 75 Kg lobster pots aboard. No chest pain, palpitations or dizziness. Followed from early childhood for a murmur. No family history of heart disease but has two young children, one of whom has a murmur but is healthy. On examination this man looks healthy and muscular, BMI 24. BP 125/75. Heart rate is 60 and regular. Breath sounds are normal. Apex beat is not displaced but appears a bit increased although he is slim. There is a suprasternal notch thrill and a thrill at the right upper sternal edge. Pulses are a bit increased. You listen in the left and right upper sternal edges as well as the apex. This recording was made at the left sternal border, 3rd interspace.
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4.1 S2: d) single 4.2 Systole: e)ejection click and harsh systolic ejection murmur 4.3 Diastole: b)early diastolic murmur 4.4 Diagnosis: e)bicuspid aortic valve, aortic stenosis and insufficiency
Comments:
This patient has congenital aortic stenosis from a bicuspid aortic valve, which was mild at the time of diagnosis in childhood but appears to be becoming more severe. This would be in keeping with his mild symptoms. Either the stenosis has increased or the aortic insufficiency is worse. The ejection click is from the bicuspid valve and is very close after S1 and could easily be missed. S2 appears single, either due to the stenosis or the loudness of the murmur which obscures S2. The systolic murmur is harsh and mid systolic, suggesting a moderate gradient of at least 40-50 mm Hg. The early diastolic murmur of aortic insufficiency is of medium duration suggesting moderate insufficiency. It would be shorter for severe insufficiency and longer for mild cases. It is fairly high pitched (“blowing”) and can easily be missed in the presence of a loud systolic murmur. It is often better heard in the sitting position with a breath hold at end expiration. I have included below a recording in a different patient with a bicuspid valve in which the ejection click is a bit later and more clearly heard. The systolic murmur is also evident but no diastolic murmur.
In our case, the pulses and pulse pressure are a bit increased as well, in keeping with the moderate insufficiency. Classically the apical impulse is said to be increased and sustained when aortic stenosis is severe, while the impulse would be more sudden if due to severe insufficiency. This may be a difficult distinction in practice however. The suprasternal notch thrill is from the aortic stenosis as is the one at the right sternal edge. In milder cases of aortic stenosis the thrill would only be at the sternal notch, making it useful in distinguishing pulmonic from aortic valve stenosis. The murmur would be expected to radiate up the carotids in this patient.
Another important issue with this man is his child’s murmur. A careful family history should be obtained in any patient with congenital heart disease. There is a significant chance of inheritance of aortic valve disease (about 10 % in some series) in offspring of parents with that condition, so it would be important to screen his child with echocardiography.
Additional recordings
Early systolic ejection click and a mid systolic click. Is there mitral prolapse as well as bicuspid aortic valve?
