Differential Diagnosis
- Single most likely diagnosis
- Hypertrophic Cardiomyopathy (HCM): This condition is characterized by an asymmetric or symmetric thickening of the left ventricular wall, which can lead to a small left ventricular size and mild concentric left ventricular hypertrophy. The increase in LVOT (left ventricular outflow tract) gradient with Valsalva maneuver is a hallmark of HCM, as it worsens the obstruction.
- Other Likely diagnoses
- Hypertensive Heart Disease: Chronic hypertension can lead to concentric left ventricular hypertrophy. Although it might not typically cause a significant increase in LVOT gradient with Valsalva, severe cases could potentially lead to symptoms and findings similar to those described.
- Aortic Stenosis: This valvular heart disease can cause left ventricular hypertrophy due to the increased afterload. However, the classic presentation includes symptoms such as syncope, heart failure, and chest pain, and the increase in gradient with Valsalva is not as characteristic as in HCM.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
- Cardiac Amyloidosis: Although less common, cardiac amyloidosis can present with left ventricular hypertrophy and restrictive cardiomyopathy. It's crucial to consider this diagnosis due to its poor prognosis and the availability of specific treatments.
- Coronary Artery Disease: While CAD might not directly cause the described echocardiographic findings, it's essential to rule out CAD, especially in patients with risk factors, as it can lead to severe consequences if left untreated.
- Rare diagnoses
- Fabry Disease: A genetic disorder that can lead to left ventricular hypertrophy due to the accumulation of globotriaosylceramide in the heart. It's a rare condition but should be considered in young patients or those with a family history of the disease.
- Friedreich’s Ataxia: A rare genetic neurodegenerative disorder that can also involve the heart, leading to hypertrophic cardiomyopathy. The diagnosis is usually made based on neurological symptoms, but cardiac involvement can be significant.