Neonatal Marfan Syndrome: A Rare, Severe, and Life-Threatening Genetic Disease

J Pediatr. 2019 Aug:211:221-221.e2. doi: 10.1016/j.jpeds.2019.03.033. Epub 2019 Apr 30.

Authors

Anna Solé-Ribalta¹, Xavier Rodríguez-Fanjul², Juna Manuel Carretero-Bellon³, Carla Pascual-Sala⁴, Loreto Martorell-Sampol⁵, Sara Bobillo-Pérez¹, Ana María Morillo-Palomo⁶

Affiliations

¹ Pediatric Intensive Care Unit, Hospital Sant Joan de Déu, Barcelona, Spain.
² Pediatric Intensive Care Department, Hospital Joan XXIII, Tarragona, Spain.
³ Cardiology Department, Hospital Sant Joan de Déu, Barcelona, Spain.
⁴ Pediatric Department, Hospital Trueta, Girona, Spain.
⁵ Genetic Department, Hospital Sant Joan de Déu, Barcelona, Spain.
⁶ Neonatal Intensive Care Unit, Hospital Sant Joan de Déu, Barcelona, Spain.

PMID: 31053350
DOI: 10.1016/j.jpeds.2019.03.033

No abstract available

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / etiology
Cardiomyopathy, Dilated / etiology
Fatal Outcome
Female
Fibrillin-1 / genetics
Heart Failure / etiology
Humans
Infant, Newborn
Marfan Syndrome / diagnosis*
Marfan Syndrome / genetics
Mutation

Substances

FBN1 protein, human
Fibrillin-1