Differential Diagnosis for Chest Pain and Shortness of Breath in a 24-Year-Old Trans Woman

Single Most Likely Diagnosis

• Hypertrophic Cardiomyopathy (HCM): The presence of a loud systolic murmur along the left sternal border that increases with standing and decreases with squatting is highly suggestive of HCM. This condition is characterized by asymmetric septal hypertrophy, which can lead to left ventricular outflow tract obstruction, especially with maneuvers that decrease venous return (like standing) and improve with maneuvers that increase venous return (like squatting).

Other Likely Diagnoses

• Aortic Stenosis: Although less likely in a young individual without a history of rheumatic fever or congenital heart disease, aortic stenosis can present with a systolic murmur and symptoms of exertional chest pain and shortness of breath. However, the murmur of aortic stenosis typically does not vary significantly with position.
• Mitral Regurgitation: This condition can also present with a systolic murmur and symptoms of heart failure, including shortness of breath. However, the murmur's characteristics and response to positional changes might not perfectly match those described.

Do Not Miss Diagnoses

• Pulmonary Embolism: Although the clinical presentation might not fully align with the typical symptoms of pulmonary embolism (such as sudden onset dyspnea, chest pain that worsens with deep breathing), it's crucial to consider this diagnosis due to its high mortality rate if missed. Trans women, especially those on hormone therapy, may have an increased risk of thromboembolic events.
• Aortic Dissection: This is a life-threatening condition that can present with chest pain and might be associated with a murmur if there is involvement of the aortic valve. The pain is often severe and tearing in nature, but any chest pain in a young individual with a murmur warrants consideration of this diagnosis.

Rare Diagnoses

• Cardiac Tumors (e.g., Cardiac Myxoma): These can cause obstructive symptoms and murmurs, depending on their location and size. They are less common but should be considered in the differential diagnosis of unexplained heart murmurs and symptoms.
• Congenital Heart Diseases (e.g., Ventricular Septal Defect): Some congenital heart diseases can present later in life, especially if they were not diagnosed in childhood. They might cause murmurs and symptoms of heart failure, including shortness of breath and chest pain on exertion.