What is the best approach to manage a 50-year-old male with systolic and diastolic heart failure, hypertension, pulmonary sarcoidosis, and a dual chamber pacemaker, presenting with dyspnea, palpitations, fatigue, nocturnal pounding in the chest, elevated hemoglobin and hematocrit levels, normal brain natriuretic peptide (BNP) levels, and an A1C of 6.4?

Management of Complex Heart Failure with Elevated Hemoglobin/Hematocrit

Immediate Priority: Investigate the Polycythemia

The elevated hemoglobin (16 g/dL) and hematocrit (58%) are critically abnormal and represent the most urgent finding requiring immediate investigation, as this degree of polycythemia can directly cause or worsen both dyspnea and palpitations through hyperviscosity syndrome and increased cardiac workload. 1, 2

Key Diagnostic Considerations

• Pulmonary sarcoidosis with pulmonary hypertension is a critical diagnosis to evaluate, as approximately 6% of unselected sarcoidosis patients develop pulmonary hypertension, which commonly presents with persistent dyspnea despite systemic therapy 1
• The normal BNP argues against acute decompensated heart failure as the primary driver of current symptoms 3
• Polycythemia of this magnitude (hematocrit 58%) suggests either secondary polycythemia from chronic hypoxemia or primary polycythemia vera, both requiring urgent evaluation 1, 2

Essential Workup Steps

• Right heart catheterization is recommended to definitively assess for pulmonary hypertension in sarcoidosis patients with persistent dyspnea, as echocardiography can underestimate pulmonary artery pressures and miss post-capillary pulmonary hypertension 1, 2, 4
• Arterial blood gas analysis to assess for chronic hypoxemia driving secondary polycythemia 1, 4
• Hematology consultation for polycythemia workup including JAK2 mutation testing to exclude polycythemia vera 1
• Echocardiography with specific attention to pulmonary artery systolic pressure estimation and assessment of diastolic dysfunction, though recognize that in 9 of 53 patients in one series, PA pressure could not be estimated due to absent tricuspid regurgitation 1

Cardiac Sarcoidosis Evaluation

Given the combination of heart failure, pulmonary sarcoidosis, and pacemaker requirement, cardiac sarcoidosis must be actively excluded, as it affects 25% of patients with sarcoidosis and up to 30% develop complete heart block 3

• Cardiac MRI with late gadolinium enhancement to assess for myocardial involvement 3
• Consider PET scan if cardiac MRI is contraindicated or inconclusive 3
• Even if high-grade AV block reversed transiently, pacemaker implantation is recommended due to possibility of disease progression 3

Pacemaker Syndrome Assessment

Pacemaker syndrome should be considered in this patient with a dual-chamber pacemaker presenting with pounding in chest, dyspnea, and fatigue, as this represents an often-missed diagnosis that is easily treated once identified 5

• Review pacemaker interrogation specifically for AV synchrony and percentage of ventricular pacing 3, 5
• Dual-chamber pacemakers are reasonable for patients with sinus bradycardia and/or paroxysmal atrial fibrillation, but inappropriate programming can cause symptoms 3
• Bedside ECG during symptomatic episodes to assess for loss of AV synchrony 5

Heart Failure Management Optimization

Diastolic Heart Failure Management

For diastolic heart failure, ACE inhibitors or ARBs combined with beta-blockers represent cornerstone therapy, with target blood pressure <130/80 mmHg 6

• ACE inhibitors or ARBs provide blood pressure control while directly improving ventricular relaxation and promoting regression of left ventricular hypertrophy 6
• Beta-blockers lower heart rate to increase diastolic filling period, allowing more time for ventricular filling in the setting of impaired relaxation 6
• Diuretics should be titrated carefully to reduce elevated filling pressures without causing excessive preload reduction that compromises cardiac output 6

Systolic Heart Failure Management

• Beta-blockers are recommended (unless contraindicated) in patients with heart failure to reduce the risk of sudden death, with patients having no or minimal fluid retention 3
• ACE inhibitors are indicated for treatment of both systolic and diastolic hypertension in patients with heart failure 3
• Anticoagulants are indicated if paroxysmal or chronic atrial fibrillation develops 3

Pulmonary Hypertension in Sarcoidosis Management

If pulmonary hypertension is confirmed on right heart catheterization, management primarily relies on supportive therapy with supplemental oxygen and diuretics as needed 2, 4

• Supplemental oxygen for resting hypoxemia 2, 4
• Corticosteroids may be considered for rare cases of sarcoidosis-associated pulmonary hypertension with nonfibrotic pulmonary disease 2, 4
• Lung transplantation evaluation for otherwise eligible patients with severe pulmonary hypertension 2, 4
• Data on PAH-specific agents (endothelin receptor antagonists, phosphodiesterase-5 inhibitors) are limited and discrepant, with no successful placebo-controlled trials, though some patients experienced good clinical response in case series 1, 2, 4

Critical Pitfalls to Avoid

• Do not attribute all symptoms to heart failure when BNP is normal – this patient's presentation demands investigation of alternative or contributing diagnoses 3
• Do not overlook the severely elevated hematocrit – hyperviscosity from polycythemia can independently cause dyspnea, fatigue, and palpitations while worsening cardiac function 1
• Do not rely solely on echocardiography to exclude pulmonary hypertension in sarcoidosis – right heart catheterization remains the gold standard and is necessary to exclude post-capillary pulmonary hypertension 1, 2, 4
• Do not assume pacemaker interrogation showing "nothing concerning" excludes pacemaker syndrome – specific assessment of AV synchrony and correlation with symptoms is required 5
• Do not initiate ACE inhibitors in patients at risk of excessive hypotension without careful monitoring, particularly those with systolic blood pressure below 100 mmHg 7

Prognosis Considerations

• Pulmonary hypertension carries a poor prognosis in sarcoidosis patients, with significantly increased morbidity and mortality 2, 4
• Pulmonary hypertension is an independent risk factor for mortality in sarcoidosis patients awaiting lung transplantation 4
• Grade 2 diastolic dysfunction carries substantially increased mortality, with survival rates of only 39% in certain populations, making aggressive management essential 6