Increased shortness of breath.

The patient was a 63-year-old African-American female who complained of gradually worsening shortness of breath for five months. She required three OSH admissions for acute exacerbations of her dyspnea. During her first admission, she was found to have bilateral pulmonary infiltrates and was diagnosed with congestive heart failure with secondary pulmonary hypertension. CT of the chest revealed no pulmonary fibrosis. Her symptoms were somewhat responsive to diuresis, though her oxygen saturation continued to drop with exertion. Because of this, she was discharged home on supplemental oxygen with plans for further work-up as an outpatient.

Her second admission three months later was remarkable for the necessity of intubation for hypoxic respiratory failure. Cardiac catheterization revealed multivessel coronary artery disease such that stents were placed in the left main, left anterior descending, and right coronary arteries. Other findings included normal left ventricular function and marked pulmonary hypertension (systolic pulmonary artery pressure 96). The mean pulmonary capillary wedge pressure was 13, the right ventricular pressure 96/28 and the right atrial pressure mean 28. Once stabilized, she was discharged home with supplemental oxygen.

She was admitted three weeks later for worsening dyspnea on exertion. During exertion she also described recent palpitations, lightheadeness, and mid-sternal chest pain. She also complained of a non-productive, 2 pillow orthopnea, and paroxysmal nocturnal dyspnea. She was hypoxic (PaO2 of 49 on 100% oxygen) and admitted to the intensive care unit for hypoxic respiratory failure. At this point, she was transferred to JHH.

She (or family) denied any recent fevers, productive cough, wheezing, loss of consciousness, focal neurologic deficits, cognitive changes, or occupational/recreational exposures. She also noted gradually worsening lower extremity edema despite use of diuretics. For many years, she had noted that her fingers were sensitive to cold, but over the past two years, her fingers had become thicker necessitating taking off some of her rings.

Raynaud phenomenon, diabetes mellitus, coronary artery disease, hypertension, and glaucoma.

None reported.

Parents had hypertension. Both deceased at ages 70s to unknown causes.

Positive for tobacco use, stopped smoking 20 years ago. Occasional alcohol use. No previous IVDA. Lives alone with family in the area.

Penicillin (rash), ACE inhibitors (facial swelling).

Negative for swallowing difficulties, peptic symptoms, hepatitis, dysuria, hematuria, joint problems, rashes.
Recent weight gain >10 lbs.

• The patient is an overweight African-American female in acute respiratory distress, dyspneic after 1-2 sentences. She is using accessory muscles of respiration.
• Vital signs: T=36.9 oC, HR=121, RR=32-35, BP=149/81.
• Head and Neck: Patient on face mask. JVP >12 cm.
• Lungs: Decreased air movement throughout. Crackles throughout, greater at bases. No wheezes.
• Cardiovascular: Tachycardic. Unable to auscultate clearly due to respiratory effort, + RV heave. 2/6 systolic murmur at mid-sternum.
• Abdomen: Soft and non-tender. Exam difficult due to tachypnea
• Extremities: 2+ bilateral pitting edema to the knees. Fingers: digits appear swollen but are hard and tight.
• Neurologic examination: No cranial nerve abnormalities. No focal motor or sensory deficits.

Initial routine lab results were significant for WBC 11,710, Hgb 11.1, Hct 34.6, and platelets 270,000. Glucose 212. O2 sat 65%. BUN 31, Cr 1.6. Albumin 3.3, AST 83, ALT 65, LDH 424. Venous blood gas: pH 7.46 PO₂ 34, PCO₂ 29. Troponin 0.61. INR 1.3.

Chest CT: dilation of the main pulmonary artery, evidence of right ventricular strain with rotation of the heart and a flattened interventricular septum, a small pericardial effusion, large bilateral pleural effusions, diffuse interstitial infiltrates compatible with pulmonary edema and hilar adenopathy. No pulmonary emboli (Images 1-5).

Transthoracic echocardiogram: right ventricular impingement on the left ventricle due to pressure and volume overload. Severely dilated right ventricle with hypertrophy and moderately reduced function. Severely dilated right atrium with moderate to severe tricuspid regurgitation. Normal left ventricular function with mild concentric hypertrophy. No evidence of aortic, mitral, or pulmonic valve disease. No patent foramen ovale. Small pericardial effusion with no suggestion of tamponade.

The patient was transferred to The Johns Hopkins Hospital (JHH) for further evaluation and management of her dyspnea. On exam, she appeared to be fluid overloaded. A Cardiology assessment concluded that there was no evidence of active cardiac ischemia. Pulmonary artery catheterization showed pulmonary artery systolic pressures in the range of 60-80s and a pulmonary capillary wedge pressures less than 10.

Over the next 24-48 hours, the patient was found to be minimally responsive to diuretic therapy and persistently hypotensive with an increasing oxygen requirement. She was transferred to the MICU for more aggressive diuresis, pressor support and management of her respiratory status. BiPAP support was initiated. She was placed on a furosemide drip, chlorothiazide, and dopamine drip. Epoprostenol (Flolan) was started.

Despite these interventions, her respiratory status failed to improve, and she continued with radiographic pulmonary edema and effusions. A laboratory rheumatologic work-up was pursued, which ultimately revealed a positive ANA (greater than 1:640), positive anti-centromere antibodies, and negative for Scl-70. Given her poor prognosis and increasing symptoms, the patient elected to have respiratory support withdrawn, and expired shortly thereafter.

What is (are) the patient's most likely underlying disease(s)?
What is the most likely cause of the patient's respiratory failure, hemodynamic collapse, and eventual demise?