CTICasesFabry Disease
Imaging findings
Cardiac MRI demonstrates circumferential left ventricular hypertrophy with normal overall function. Delayed contrast-enhanced images reveal classic hazy mid-myocardial late gadolinium enhancement (LGE) in the basal-to-apical inferolateral segment. Native T1 mapping shows shortened native T1 relaxation times (around 750 milliseconds on 1.5T).
Key takeaways
Fabry disease is an X-linked lysosomal storage disorder characterized by deficient alpha-galactosidase A activity, leading to sphingolipid accumulation in tissues including the myocardium. Shortened native T1 values on cardiac MRI reflect the presence of intracellular lipid/fat deposition, which distinguishes Fabry disease from other causes of hypertrophy such as hypertrophic cardiomyopathy (HCM) or amyloidosis. Mid-myocardial LGE in the inferolateral wall is a characteristic enhancement pattern.
AI-assisted summary — may contain errors. Verify against the source video. Learn more
More from this webinar
- Atrial-Esophageal FistulaIatrogenic
- Aortic Intramural Hematoma from Intra-Aortic Balloon Pump InjuryIatrogenic
- Bronchogenic CystCongenital
- Cytokine Release Syndrome and Pulmonary Toxicity post CAR-T Cell TherapyIatrogenic
- Bochdalek HerniaCongenital
- Left Ventricular HemangiomaNeoplastic
- Pulmonary Sarcoidosis (Fairy Ring Sign)Autoimmune
- Intraparenchymal Chest Tube Misplacement and Lung LacerationIatrogenic
See all cases from May 13, 2021 →
Related Metabolic cases
- Niemann-Pick Disease
- Pulmonary Light-Chain (AL) Amyloidosis with Progressive Bullous Emphysema
- Pulmonary AL Amyloidosis with Cystic Destruction
- Pulmonary AL Amyloidosis with Cystic Lung Disease and Thin-Wall Bronchiectasis
- Cardiac AL Amyloidosis — Late-Phase CT Enhancement Pattern
- Renal Osteodystrophy — Rugger Jersey Sign