Left Ventricular Diverticulum in a Patient with Galactosialidosis
Author Information
Author(s): Alessandro Durante, Mariaemilia Spoladore
Primary Institution: San Raffaele Scientific Institute and Vita-Salute San Raffaele University
Hypothesis
The presence of vacuolated cells could make the wall of the diverticulum less resistant, which could be the cause of its expansion under the left ventricular pressure.
Conclusion
This is the first report of a cardiac bulging in galactosialidosis.
Supporting Evidence
- The patient had a stable pericardial effusion over 12 months.
- The bulging was described as resembling an intestinal diverticulum.
- The bulging had a wide neck and a thin wall.
Takeaway
A 35-year-old man with a rare disease had a bulge in his heart that doctors had never seen before.
Methodology
The patient underwent transthoracic echocardiographic examinations and cardiac magnetic resonance imaging.
Limitations
The study did not perform a myocardial biopsy due to the high risk of complications.
Participant Demographics
A 35-year-old man with late juvenile galactosialidosis.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website