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Familial fibromuscular dysplasia presenting as sudden death
F E Dominguez1, L G Tate, M J Robinson
1Mount Sinai Medical Center, Miami Beach, Florida.
Insights
Fibromuscular dysplasia is rare in infants, especially familial cases. This study highlights its role in sudden infant death due to coronary artery and aortic complications.
Area of Science:
- Cardiovascular Pathology
- Pediatric Cardiology
- Genetics of Arterial Disease
Background:
- Fibromuscular dysplasia (FMD) is an uncommon non-atherosclerotic, non-inflammatory condition of arteries.
- While FMD commonly affects renal and carotid arteries in adults, its occurrence in infants, particularly involving the aorta and coronary arteries, is exceedingly rare.
- Familial predisposition to arterial FMD is infrequently documented, especially in the pediatric population.
Observation:
- This report details three infant siblings diagnosed with fibromuscular dysplasia.
- The affected infants presented with sudden, unexpected death.
- Autopsies revealed fibromuscular dysplasia affecting the aorta, its arch branches, and major coronary arteries.
Findings:
- Fibromuscular dysplasia involving the aorta, its arch branches, and coronary arteries was identified as the cause of death.
- Acute myocardial infarction, secondary to coronary artery FMD, was the direct cause of death in these infants.
- The familial occurrence of this severe form of FMD in infancy was a key observation.
Implications:
- This case series underscores the importance of considering fibromuscular dysplasia in the differential diagnosis of sudden infant death syndrome (SIDS).
- Early recognition and potential genetic counseling may be crucial for families with a history of arterial disease.
- Further research into the genetic underpinnings and early diagnostic markers for infantile FMD is warranted to prevent such tragic outcomes.
Abstract:
Fibromuscular dysplasia involving the aorta, its main arch branches, and the coronary arteries is infrequent. Familial occurrence of arterial fibromuscular dysplasia is rarely recognized in infancy. We report three infant siblings with this disorder who presented with sudden unexpected death secondary to acute myocardial infarction as a complication of fibromuscular dysplasia involving the aorta, its main arch branches, and the major coronary arteries. This condition must be considered in the differential diagnosis of identifiable causes of the sudden infant death syndrome.