Diagnostic Evaluation for a 35-Year-Old Female with Exercise Intolerance, Asthma History, and LVH on EKG
For a 35-year-old female with new exercise intolerance, history of asthma, and LVH on EKG, comprehensive cardiac imaging with echocardiography is strongly recommended as the first diagnostic test to evaluate for hypertrophic cardiomyopathy (HCM). 1
Initial Cardiac Assessment
Echocardiography
- Transthoracic echocardiography (TTE) is the cornerstone of initial evaluation for suspected HCM 1
- TTE should assess:
- Maximum left ventricular wall thickness at all levels (base to apex)
- Presence and degree of left ventricular outflow tract obstruction (LVOTO)
- Mitral valve function and presence of systolic anterior motion (SAM)
- Left atrial size
- Left ventricular systolic and diastolic function
- Presence of apical aneurysms or atypical patterns of hypertrophy
Additional Cardiac Testing
24-hour ambulatory ECG monitoring (Holter) to detect:
- Ventricular tachycardia
- Atrial fibrillation
- Other arrhythmias 1
Exercise echocardiography if resting echocardiogram does not show significant LVOTO (≥50 mm Hg) to:
- Assess for provocable LVOTO
- Evaluate exercise capacity
- Correlate symptoms with cardiac findings 1
Differential Diagnosis Considerations
Since the patient has both asthma and LVH on EKG, it's important to differentiate between:
- True HCM - a primary cardiomyopathy with genetic basis
- Secondary LVH - due to hypertension or other causes
- Asthma exacerbation - contributing to exercise intolerance
- Combined cardiac and pulmonary pathology
Hypertension Assessment
- 24-hour ambulatory blood pressure monitoring to exclude hypertension as a cause of LVH 1
- Assessment of end-organ damage if hypertension is present 1
Advanced Cardiac Imaging
If echocardiography is inconclusive or suggests HCM:
- Cardiovascular Magnetic Resonance (CMR) imaging to:
- Provide precise assessment of LV wall thickness
- Detect areas of myocardial fibrosis/scarring (late gadolinium enhancement)
- Identify apical variants of HCM that may be missed on echocardiography
- Evaluate for other cardiomyopathies 1
Pulmonary Assessment
Given the history of asthma:
- Pulmonary function testing with bronchodilator response
- Cardiopulmonary exercise testing (CPET) to:
- Differentiate between cardiac and pulmonary causes of exercise intolerance
- Assess oxygen consumption (VO2)
- Evaluate ventilatory efficiency
Genetic Considerations
- Genetic testing should be considered if echocardiography confirms HCM, especially given the young age of presentation 1
- Family screening may be indicated if HCM is confirmed
Common Pitfalls to Avoid
- Attributing all symptoms to asthma without thorough cardiac evaluation
- Missing HCM variants that may not present with typical asymmetric septal hypertrophy
- Overlooking diastolic dysfunction which can cause exercise intolerance even with preserved ejection fraction
- Failure to perform provocative testing for LVOTO when resting gradients are normal
- Using dobutamine for stress testing in suspected HCM (can exacerbate obstruction and is not recommended) 1
Follow-up Testing
If HCM is confirmed:
- Repeat echocardiography every 1-2 years to monitor disease progression 1
- Annual 12-lead ECG to evaluate for asymptomatic changes in conduction or rhythm 1
- Risk stratification for sudden cardiac death
This comprehensive approach will help determine the cause of exercise intolerance and guide appropriate management for this young woman with LVH on EKG and history of asthma.