A 21-year-old woman born in Guatemala comes to a primary care clinic in the United States
and refers that usually she feels fine but experiences some shortness of breath and fatigue
while doing housework.
She never participated in sports in school because she was intolerant to exercise,
became quite fatigued and short of breath.
Physical exam: she has a low blood pressure -- which wouldn't be uncommon in a young woman -
94/70 mmHg, heart rate is normal at 78/min, and the fingertip oxygen saturation also normal at 92%.
There is a 2/6 systolic ejection murmur heard best at the upper left sternal border -
that's the pulmonary area--and she has a widely split S2. Let's imitate these findings.
First of all, normal, lub-dub, lub-dub, lub-dub.
Now we're gonna hear the murmur, lub-shshsdub, lub-shshsdub, lub-shshsdub.
Now we're gonna hear the splitting of the second heart sound.
First, let's do normal, lub-dubdudub, lub-dubdu, lub-dubdudub, lub-dubdu --
You'll notice there's respiratory variation.
Sometimes it's split, sometimes it doesn't.
In the condition we're talking about here, there's a wide splitting
in the second heart sound that stays permanently, lub-dudut, lub-dudut, lub-dudut, lub-dudut
So, what else? She had blood tests, they're all normal. Not surprising.
So, what are the critical features here in the history and the physical exam?
She's obviously dyspneic and also had exercise intolerance when she was young.
She has a normal oxygen saturation which means she's not got an Eisenmenger syndrome,
doesn't have severe pulmonary hypertension.
She does have an injection murmur so there's some valvular issue here going on
and critically, she has a widely split-second heart sound which to me suggests an atrial septal defect.
The diagnostic options would do a chest X-ray.
The chest X-ray shows an enlarged heart and also increased vascular markings.
In other words, it looks like there's a lot of blood flow going through her lungs
and she has large pulmonary arteries also confirming that there is a large amount of blood flow
going through the lungs and of course the heart is enlarged.
So, the diagnosis is atrial septal defect. We could tell that from the physical exam.
She had a thick split second heart sound, she had a little systolic pulmonary murmur
which is pulmonary flow murmur because of the increased left to right shunt flow
going through the lungs and you saw the increased evidence for the shunt flow
in the lung X-ray with the marked increased vascular markings and her large pulmonary arteries.
There's some good news here. Her oxygen saturation at fingertip is normal and this ASD can be closed.
Used to be closed by surgery, these days it's often closed by a catheter patch
and this young woman should do very, very well and presumably would have a normal life expectancy.
There is one possibility for future problems in the future.
The patch and the fact she had this atrial septal defect
means she may be prone to atrial or supraventricular arrythmias at some time in the future.
Her heart is enlarged because the right ventricle is dilated secondary to the increased cardiac output
from the left to right shunt and that should get reduced after successful closure of the ASD.
In this case, it was closed with a clamshell device in the catheterization laboratory
but many places would still close it with open heart surgery with a patch.