Could Fabry Disease Cause Giant Coronary Aneurysms in a 7-Month-Old Infant: A Case Report
Reza Shabanian1, Minoo Dadkhah1, Rana Doroudian2
1Department of Pediatric Cardiology, Hakim Children's Hospital Tehran University of Medical Sciences Tehran Iran.
Insights
Fabry disease, a rare genetic disorder, can cause giant coronary artery aneurysms in infants, a condition previously undocumented in children. This case highlights the importance of genetic testing for Fabry disease in infants presenting with unusual cardiac symptoms.
Area of Science:
- Genetics and rare diseases
- Pediatric cardiology
- Lysosomal storage disorders
Background:
- Fabry disease is an X-linked lysosomal storage disorder impacting multiple organs.
- Cardiac involvement, including left ventricular hypertrophy (LVH), is common, increasing with age.
- Coronary artery disease (CAD) is a known complication in adults but rarely reported in pediatric Fabry disease.
Purpose of the Study:
- To report a unique case of Fabry disease presenting with giant coronary artery aneurysms in an infant.
- To highlight the potential for early cardiac manifestations of Fabry disease beyond typical LVH in pediatric patients.
- To emphasize the diagnostic challenges and the importance of genetic testing in atypical pediatric cardiac presentations.
Main Methods:
- Case report of a 7-month-old infant with prolonged fever, elevated inflammatory markers, and giant coronary artery aneurysms.
- Initial diagnosis considered atypical Kawasaki disease.
- Genetic analysis revealed a GLA mutation, indicating Fabry disease as a potential underlying cause.
Main Results:
- The infant presented with giant coronary artery aneurysms, a novel finding in pediatric Fabry disease.
- Genetic testing confirmed a GLA mutation, linking the cardiac abnormalities to Fabry disease.
- This case challenges the established understanding of cardiac manifestations in pediatric Fabry disease.
Conclusions:
- Fabry disease should be considered in the differential diagnosis of infants with unexplained coronary artery abnormalities.
- Early identification of Fabry disease through genetic testing is crucial for timely intervention and management of cardiac complications.
- This case underscores the need for expanded awareness of Fabry disease's diverse clinical spectrum in pediatric populations.
Abstract:
Fabry disease is a rare X-linked lysosomal storage disorder that can affect multiple organs. Cardiac involvement, one of its significant manifestations, can begin in childhood and is more prevalent in males, with severity increasing with age and disease progression. The most common cardiac feature in childhood is left ventricular hypertrophy (LVH), a significant contributor to morbidity and early mortality in adulthood. Other cardiac complications in Fabry disease include atrial fibrillation, ventricular tachycardia, conduction abnormalities, valvular insufficiency, hypertension, and coronary artery disease (CAD). While life-threatening cardiac symptoms are typically absent in children, accelerated atherosclerosis can lead to CAD in adults. No prior reports have documented coronary artery disease in pediatric Fabry disease patients. We present the case of a 7-month-old infant who was admitted with prolonged fever, elevated inflammatory markers, and giant coronary artery aneurysms. Initially diagnosed and treated as atypical Kawasaki disease, further investigations identified a GLA mutation, suggesting Fabry disease as a possible contributing factor.
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