A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team

Abstract

Neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14-month-old girl diagnosed with nMFS at 5 months of age. Her diagnosis followed the identification of a fibrillin-1 mutation (FBN1 gene, exon 26, chromosome 15), which is a common locus of nMFS. This patient developed severe cardiac complications resulting in congestive cardiac failure in early life and required major cardiac surgery. Since surgical intervention, our patient is still reliant on a degree of ventilator support, but the patient has gained weight and echocardiography has demonstrated improved left ventricular function and improved tricuspid and mitral valve regurgitation. Therefore, we argue the importance of a cautious multidisciplinary approach to early surgical intervention in cases of nMFS.

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

“…Disease-causing variants in exon 24–32 have been associated with early-onset and rapidly progressive MFS 2 , 30 , 38 . Seven (7/36) index patients of our cohort have pathogenic variants in this region of the FBN1 gene.…”

“…51.2% (CI 95% 36-66) of the rare variants were novel, which is similar to the percentages reported in other studies (46.6-67.5%) 19,23,26,31,32,34 . www.nature.com/scientificreports/ Disease-causing variants in exon 24-32 have been associated with early-onset and rapidly progressive MFS 2, 30,38 . Seven (7/36) index patients of our cohort have pathogenic variants in this region of the FBN1 gene.…”

Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the <i>FBN1</i> Gene

“…We found a total of 20 cases that have been reported in 16 studies (Table ). 3,[7][8][9][10][11][12][13][14][15][16][17][18][19][20][21] Various surgical procedures such as mitral valvuloplasty (31%), MVR (26%), mitral annu- loplasty (11%), tricuspid annuloplasty (9%), tricuspid valvuloplasty (9%), tricuspid valve replacement (6%), valvesparing aortic root replacement (3%), Bentall procedure (3%), and repair of mitral chordae tendineae rupture (3%) were performed in these cases. In these cases, 11 (55%) patients were female, and the average age at surgery was 20 months (range, 1 month to 7 years).…”

The first report of c.4408T>C mutation on FBN1 gene in a case with Marfan Syndrome in Iran

“…Marfan syndrome is the most common variable heritable connective tissue disorder that was identified and introduced by Antoine Marfan in 1896. The disease is inherited in an autosomal dominant manner (1)(2)(3)(4)(5).…”

“…The MFS is associated with complications in cardiovascular, ocular, and skeletal systems. Cardiovascular problems are known as the most common cause of morbidity and mortality in patients with MFS (2,8). The defined clinical criteria named Ghent nosology was recommended in1996 as the main diagnostic criteria for MFS and it was revised in 2010 (1,9,10).…”