A 22-year-old graduate student is seen in clinic
because of increasing leg edema that has become refractory to diuretics.
She was given a diuretics by her primary care physician
and it was thought just to be some, perhaps some edema from her menstrual cycle.
She also has noted though, much more worrisome, increasing dyspnea on exertion
and fatigue and previously, she was healthy.
It's interesting that her mother has been diagnosed with systemic lupus erythematosus
so often, this is found in families where there's a lot of autoimmune diseases.
Physical exam shows blood pressure's pretty normal for young female, 104/78,
heart beat a little bit elevated at 86, and the peripheral oxygen saturation is abnormal,
88% on room air suggesting lung disease.
And her jugular venous pulse is also elevated, should be under 10
and particularly way under 10 for such a young woman.
The lungs are clear and the cardiac exam shows a loud pulmonic component
to the second heart sound but no murmurs.
So, let's think about that. Here's normal, lub-dub, lub-dudub, lub-dudub, lub-dub.
And the secondary component, second splitting of the second heart sound is the pulmonic component,
lub-dudub, lub-dudub, lub-dudub. There you can see it's accentuated.
You can hear it at the apex where you normally don't hear the splitting.
That tells you that P2, the pulmonic component is increased.
That suggest pulmonary hypertension and she has 2-3+ peripheral edema.
So the critical factors here in the history of course, dyspnea,
unusual in a young woman like this. Hypoxemia suggesting lung disease.
Elevated jugular venous pressure suggesting a right heart failure.
The loud P2 suggesting pulmonary hypertension and the peripheral edema suggesting some right ventricular failure.
And here's her ECG. It shows right ventricular hypertrophy.
Again, notice the large R wave in V1. You're supposed to have only a small R wave in V1.
And there's right axis deviation so again, we are dealing with somebody with cor pulmonale.
That is with a right ventricle that's been over strained, likely pulmonary hypertension.
The chest X-ray shows right ventricular dilatation and an echocardiogram
shows reduced right ventricular systolic function and the pulmonary artery systolic pressure is estimated at a frightening 96 mmHg.
In other words, the same level as her arterial blood pressure
so she has arterial blood pressure in her pulmonary circuit.
Very severe pulmonary hypertension, she has a CT pulmonary angiogram and there's no pulmonary emboli
This could one of the causes of pulmonary hypertension.
So the diagnosis is idiopathic meaning unknown cause of pulmonary hypertension with RV failure.
It's thought to be, in some form, genetics and might be related to the fact that her mother had lupus erythematosus.
It's another form of cor pulmonale, the first form we saw earlier
was due to cigarette smoking and damage to the lungs.
This one is due to damage to the very small blood vessels in the lung.
It's also called primary pulmonary hypertension or pre-capillary idiopathic pulmonary hypertension.
The little pulmonary capillaries are obliterated.
There's severe vasoconstriction in the lung
and there's also dysfunction of the pulmonary endothelium that is the lining of the small blood vessels.
And pulmonary angiography is these patients demonstrates a lung vasculature
that looks like a pruned tree where the leaves have been cut off.
This used to be untreatable but these days we have some vasodilating drugs that do help.
Endothelin blockers, prostacyclin, phosphodiesterase-type inhibitors,
that's like sildenafil, Viagra that also dilates the blood vessels in the lung,
and there's a whole bunch of others that are currently being investigated.
The major treatment if she doesn't respond to medicines would be lung or heart/lung transplantation.
And then of course in the future, we're expecting new therapies for this condition all the time.
The prognosis for this condition was formerly very poor.
It's much improved with the new drugs and with the possibility for heart or heart/lung transplantation.