Cardiac Case: 22-year-old Woman with Leg Edema, Dyspnea and Fatigue

00:01 A 22-year-old graduate student is seen in clinic because of increasing leg edema that has become refractory to diuretics.

00:07 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.

00:17 She also has noted though, much more worrisome, increasing dyspnea on exertion and fatigue and previously, she was healthy.

00:25 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.

00:36 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.

00:50 And her jugular venous pulse is also elevated, should be under 10 and particularly way under 10 for such a young woman.

00:58 The lungs are clear and the cardiac exam shows a loud pulmonic component to the second heart sound but no murmurs.

01:06 So, let's think about that. Here's normal, lub-dub, lub-dudub, lub-dudub, lub-dub.

01:12 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.

01:22 You can hear it at the apex where you normally don't hear the splitting.

01:26 That tells you that P2, the pulmonic component is increased.

01:30 That suggest pulmonary hypertension and she has 2-3+ peripheral edema.

01:34 So the critical factors here in the history of course, dyspnea, unusual in a young woman like this. Hypoxemia suggesting lung disease.

01:42 Elevated jugular venous pressure suggesting a right heart failure.

01:47 The loud P2 suggesting pulmonary hypertension and the peripheral edema suggesting some right ventricular failure.

01:55 And here's her ECG. It shows right ventricular hypertrophy.

02:00 Again, notice the large R wave in V1. You're supposed to have only a small R wave in V1.

02:05 And there's right axis deviation so again, we are dealing with somebody with cor pulmonale.

02:13 That is with a right ventricle that's been over strained, likely pulmonary hypertension.

02:19 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.

02:33 In other words, the same level as her arterial blood pressure so she has arterial blood pressure in her pulmonary circuit.

02:42 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.

02:51 So the diagnosis is idiopathic meaning unknown cause of pulmonary hypertension with RV failure.

02:58 It's thought to be, in some form, genetics and might be related to the fact that her mother had lupus erythematosus.

03:07 It's another form of cor pulmonale, the first form we saw earlier was due to cigarette smoking and damage to the lungs.

03:15 This one is due to damage to the very small blood vessels in the lung.

03:19 It's also called primary pulmonary hypertension or pre-capillary idiopathic pulmonary hypertension.

03:26 The little pulmonary capillaries are obliterated.

03:29 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.

03:38 And pulmonary angiography is these patients demonstrates a lung vasculature that looks like a pruned tree where the leaves have been cut off.

03:46 This used to be untreatable but these days we have some vasodilating drugs that do help.

03:53 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.

04:07 The major treatment if she doesn't respond to medicines would be lung or heart/lung transplantation.

04:13 And then of course in the future, we're expecting new therapies for this condition all the time.

04:20 The prognosis for this condition was formerly very poor.

04:24 It's much improved with the new drugs and with the possibility for heart or heart/lung transplantation.