Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32

Heart and Vessels
Jun MaedaHiroyuki Yamagishi

Abstract

A subgroup of patients with Marfan syndrome (MFS) who have mutations in exons 24-32 of the FBN1 gene manifests severe atrioventricular valve insufficiency and skeletal problems as early as the neonatal period. These patients usually die in the first 2 years of life, thus a region between exons 24 and 32 of FBN1 is recognized as a critical region for this neonatal form of MFS (nMFS). Here, we report five consecutive patients who manifested a cardiovascular phenotype until infancy with mutations in the critical region for nMFS. Although three of these patients showed severe mitral regurgitation and died before reaching 1 year of age, the remaining two patients survived for over 5 years under medical and/or surgical interventions. Two splicing mutations and one missense mutation were identified in the three deceased patients, whereas two missense mutations were found in the two survivors. Currently, the clinical severity of patients with early-onset MFS harboring mutations in the critical region for nMFS seem to be more variable than ever thought, and intensive treatments are recommended even in this subgroup of patients with MFS.

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Citations

Mar 22, 2020·American Journal of Medical Genetics. Part a·Brooke R WillisBrian H Y Chung
Jan 18, 2019·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Amanda Veiga-FernándezJuan De León-Luis
Sep 4, 2020·Annals of the New York Academy of Sciences·Sarah StanleyDirk Hubmacher
Mar 19, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Pauline ArnaudGuillaume Jondeau
Jul 8, 2021·Neuropediatrics·Lisa BallmannMiriam Michel
Aug 3, 2021·Frontiers in Pediatrics·Laura Muiño-Mosquera, Julie De Backer

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