case_images: PMC11412893_01
case_images: (A) Chest radiograph displays marked cardiomegaly. (B) Cardiac ultrasound reveals myocardial hypertrophy. (C) Tafazzin sequencing electropherogram displays that the patient is hemizygous for the in-frame deletion, c.778- 30_778del (arrow). The variant is not detected in his mother, indicating that it was a de novo mutation.
case_images: fcvm-11-1465912-g001.jpg
case_images: PMC11412893_01_fcvm-11-1465912-g001.jpg
case_images: F1
case_images: Chest radiography revealed cardiomegaly (Figure 1A). The left ventricular ejection fraction was 36%, indicating decreased contractility, but there was no noncompaction of the LV myocardium (Figure 1B). TAFAZZIN (c.778 -30_778del) (Figure 1C). The mutation was inherited from a mother with no cardiac disease history.