Paternal fibrillin-1 mutation transmitted to an affected son with neonatal marfan syndrome: the importance of early recognition

Autor:	Huda Elshershari, Catharine Harris
Rok vydání:	2013
Předmět:	Marfan syndrome Male congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Pathology Heart malformation Fibrillin-1 Adrenergic beta-Antagonists Fibrillins Losartan Marfan Syndrome Exon Fathers medicine.artery Early Medical Intervention medicine Humans Family history Aorta business.industry Microfilament Proteins Infant Newborn General Medicine medicine.disease Propranolol Early Diagnosis Echocardiography Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Mutation cardiovascular system Disease Progression Cardiology and Cardiovascular Medicine business Fibrillin Angiotensin II Type 1 Receptor Blockers medicine.drug Dilatation Pathologic
Zdroj:	Cardiology in the young. 24(4)
ISSN:	1467-1107
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8b5142722ddc93b8f4dd2b2cf55e167 https://pubmed.ncbi.nlm.nih.gov/23930893 Zobrazit plný text záznamu