Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition.
We describe a case of neonatal Marfan syndrome diagnosed because of a family history, dysmorphic features, and cardiac abnormality. The echocardiogram showed aortic root dilatation. Molecular genetic studies showed a mutation in exon 31 of the FBN1 gene in the infant and father. The infant was treated with losartan, which significantly slowed the rate of enlargement of the aorta.
1Department of Pediatrics,Medical College of Wisconsin,Milwaukee,Wisconsin,United States of America.
Huda
H
Elshershari
2Department of Child Health,University of Missouri Health System,Columbia,Missouri,United States of America.
Catharine
C
Harris
D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use; D047228:Angiotensin II Type 1 Receptor Blockers / Q000627:therapeutic use; D001011:Aorta / Q000000981:diagnostic imaging*; D004108:Dilatation, Pathologic / Q000000981:diagnostic imaging; D018450:Disease Progression; D042241:Early Diagnosis; D061345:Early Medical Intervention; D004452:Echocardiography; D005220:Fathers; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D007231:Infant, Newborn; D019808:Losartan / Q000627:therapeutic use; D008297:Male; D008382:Marfan Syndrome / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D011433:Propranolol / Q000627:therapeutic use; D054392:Adipokines
D000319:Adrenergic beta-Antagonists; D047228:Angiotensin II Type 1 Receptor Blockers; D000071838:Fibrillin-1; D000071837:Fibrillins; D019808:Losartan; D008840:Microfilament Proteins; D011433:Propranolol; C000605722:FBN1 protein, human; D054392:Adipokines