What is the initial step in a cardiac workup and what are the common treatment options for heart disease?

Initial Cardiac Workup

Begin with a 12-lead resting ECG and basic blood tests—these are mandatory first steps that can rule out heart failure and guide all subsequent testing. 1

Step 1: Focused Clinical Assessment

Obtain a targeted history focusing on specific cardiac symptoms:

• Chest pain characteristics: Document location, radiation, precipitating factors (exertion vs. rest), and relieving factors—note that only 10-25% of patients with chronic coronary syndrome present with classic anginal symptoms 1
• Dyspnea patterns: Assess for exertional dyspnea, orthopnea (difficulty breathing when lying flat), paroxysmal nocturnal dyspnea (waking up short of breath), and dyspnea at rest 2, 1
• Associated symptoms: Document palpitations, syncope, peripheral edema, nocturnal cough, fatigue, and reduced exercise tolerance with prolonged recovery time 2, 1
• Cardiovascular risk factors: Hypertension, diabetes, hyperlipidemia, smoking history, and family history of premature coronary disease or sudden cardiac death 1
• Medication and substance history: Current medications, alcohol use, illicit drugs, and alternative therapies 1

Physical examination should identify:

• Cardiac findings: Irregular pulse (suggests atrial fibrillation), murmurs (valvular disease), extra heart sounds (S3 indicates ventricular dysfunction, S4 suggests diastolic dysfunction), and abnormal heart rate or rhythm 2
• Volume status: Jugular venous distension, peripheral edema, pulmonary rales 2, 3
• Vital signs: Blood pressure in both arms, heart rate, respiratory rate, oxygen saturation 3

Step 2: Mandatory Initial Testing

Every patient requires these tests before proceeding:

• 12-lead ECG: A completely normal ECG makes heart failure very unlikely (likelihood <2%) in acute presentations 1, 4. The ECG identifies acute coronary syndrome, arrhythmias, prior infarction, conduction abnormalities, and long QT interval 2, 3
• Basic blood tests: Complete blood count, serum electrolytes, blood urea nitrogen, creatinine, fasting glucose, lipid profile, liver function tests, and thyroid-stimulating hormone 2, 1, 5
• Chest X-ray (PA and lateral): Essential when pulmonary symptoms are present to assess cardiac size, pulmonary vascularity, and identify pulmonary edema—though normal in 20% of heart failure cases 2, 1, 3

A critical pitfall: Do not proceed with advanced testing until these basic studies are complete and reviewed 2

Step 3: Confirm Structural Abnormality

Transthoracic echocardiography is the diagnostic standard to confirm or exclude heart failure and assess cardiac structure:

• Assess left ventricular systolic function: Measure ejection fraction to distinguish systolic heart failure (reduced ejection fraction) from diastolic heart failure (preserved ejection fraction) 2, 4
• Evaluate chamber volumes and wall thickness: Identify ventricular hypertrophy, chamber dilation, and geometric changes 2
• Assess valvular function: Detect stenosis, regurgitation, estimate valve gradients using Doppler 2
• Estimate right ventricular systolic pressure: Helps identify pulmonary hypertension 2
• Perform saline contrast study ("bubble echo"): When intracardiac shunt is suspected based on history of childhood murmurs, cyanosis, or clubbing 2

Important consideration: Up to 40-50% of heart failure patients have preserved left ventricular function (diastolic heart failure) with similar mortality to systolic heart failure 4

Step 4: Natriuretic Peptide Testing (When Diagnosis Uncertain)

Measure B-type natriuretic peptide (BNP) or N-terminal pro-BNP when heart failure diagnosis remains uncertain after initial evaluation:

• Identifies patients with elevated left ventricular filling pressures 2, 1
• Useful for differentiating dyspnea due to heart failure from other causes in emergency settings 2
• Normal levels make heart failure highly unlikely 4

Step 5: Functional Assessment and Risk Stratification

Exercise ECG testing is recommended to:

• Assess exercise tolerance and symptoms during exertion 1
• Detect exercise-induced arrhythmias and blood pressure response 1
• Evaluate for myocardial ischemia in patients with suspected coronary disease 2

Ambulatory ECG monitoring (Holter/event monitor) when:

• Arrhythmias are suspected based on palpitations or syncope 2, 1
• Symptoms are intermittent and not captured on resting ECG 2

Step 6: Identify Underlying Cause

Focus diagnostic efforts on reversible or treatable causes:

• Coronary artery disease evaluation: Coronary CT angiography (CCTA) is first-line for low-to-moderate risk patients with suspected coronary disease 1. Coronary arteriography is indicated for patients with angina or significant ischemia 1
• Additional testing based on clinical suspicion: Hepatitis serologies, HIV testing, hypercoagulable panel, autoimmune antibodies (if screening ANA positive), pulmonary function tests, sleep study, and V/Q scan or CT angiography if thromboembolic disease suspected 2

Critical pitfall: Do not start therapy before completing the diagnostic workup, as this often results in incomplete disease characterization 2

Common Pitfalls to Avoid

• Assuming all chest pain is cardiac: Many patients with coronary disease present with atypical symptoms, and many with chest pain have non-cardiac causes 1. Women and men may present with different symptom patterns 1
• Ordering advanced imaging before basic workup: Complete history, physical examination, ECG, basic labs, and chest X-ray must be done first 2, 1
• Missing diastolic heart failure: Nearly half of heart failure patients have preserved ejection fraction—echocardiography is essential to distinguish this 4
• Ignoring borderline findings: Patients with borderline elevated right ventricular systolic pressure (35-44 mmHg) on echocardiogram require risk stratification based on RV function, symptoms, and risk factors before proceeding with extensive workup 2