Apical Sparing of Longitudinal Strain, Left Ventricular Rotational Abnormalities, and Short-Axis Dysfunctionin Primary Hyperoxaluria Type 1
A 24-year-old woman with end-stage renal failure because of primary hyperoxaluria type 1 was evaluated in our hospital for systemic calcium oxalate deposition in the course of long-term (5 years) hemodialysis therapy. Diagnosis of primary hyperoxaluria type 1, a hereditary cause of calcium oxalate kidney stones or progressive nephrocalcinosis that frequently results in end-stage renal failure,1 was made by liver biopsy (reduced alanine:glyoxylate aminotransferase activity, 3.0 µmol/h per milligram protein; normal, 19.1–47.9) and by genetic testing (homozygosity for the c.302 T>C, AGXT mutation). Her plasma oxalate level on regular hemodialysis (3× per week over 4 hours) was increased (86 µmol/L predialysis; normal, <10 µmol/L).
Transthoracic echocardiography revealed increased wall thickness of the left ventricle (LV; Figure 1). The LV was mildly dilated and showed a decreased systolic function. Flow across the mitral valve demonstrated a restrictive filling pattern. Moreover, the myocardium had a characteristic echo-dense granular sparkling appearance (Movie in the online-only Data Supplement).2 Both atria were enlarged. Moderate tricuspid regurgitation was present. A right ventricle systolic pressure of 62 …