Differential Diagnosis

The patient presents with normal left ventricular systolic function, hypokinetic apical septum and mid inferoseptal segments, mild calcification of the aortic valve, and mild mitral annular calcification. The nuclear stress test was negative, but the patient now has swelling in the legs. Here's a differential diagnosis based on the provided information:

• Single Most Likely Diagnosis

  • Diastolic Dysfunction: Given the normal ejection fraction (55-60%) and symptoms of heart failure (swelling in the legs), diastolic dysfunction is a strong consideration. The presence of mild calcification of the aortic valve and mitral annular calcification may contribute to stiffening of the heart, leading to diastolic dysfunction.

• Other Likely Diagnoses

  • Coronary Artery Disease: Although the nuclear stress test was negative, it does not completely rule out coronary artery disease, especially if the test was not adequately sensitive for detecting ischemia in the distribution of the hypokinetic segments.
  • Hypertensive Heart Disease: Long-standing hypertension can lead to left ventricular hypertrophy and subsequent diastolic dysfunction, even with a normal ejection fraction.
  • Cardiac Amyloidosis: This condition can cause restrictive cardiomyopathy, leading to heart failure with preserved ejection fraction (HFpEF) and could explain the leg swelling.

• Do Not Miss Diagnoses

  • Cardiac Sarcoidosis: This condition can cause focal wall motion abnormalities and heart failure. It's crucial to consider due to its potential for significant morbidity and mortality if left untreated.
  • Acute or Chronic Coronary Syndrome with Microvascular Dysfunction: Even with a negative nuclear stress test, microvascular dysfunction can lead to ischemia and symptoms. This diagnosis is critical to consider due to its implications for treatment and prognosis.
  • Constrictive Pericarditis: Although less common, constrictive pericarditis can mimic heart failure symptoms and is a diagnosis that should not be missed due to its potential for treatment with pericardiectomy.

• Rare Diagnoses

  • Fabry Disease: A genetic disorder that can lead to cardiomyopathy and heart failure, even with preserved ejection fraction.
  • Left Ventricular Non-compaction: A rare cardiomyopathy characterized by a spongy appearance of the left ventricle, which can lead to heart failure and arrhythmias.
  • Chagas Cardiomyopathy: Caused by Trypanosoma cruzi infection, leading to cardiomyopathy and heart failure, which is rare in non-endemic areas but should be considered in patients with a relevant travel or exposure history.