Table 1 Brief review of nMFS cases in the last 20 years. NA: not available
Author, year | Sex | GA (weeks) | Delivery mode | Birthweight (centile) / Length (centile) / Head circumference (centile) | Mitral valve insufficiency / prolapse | Tricuspid valve insufficiency / prolapse | Aortic root dilation / Aortic valve regurgitation | Cardiac procedures | Molecular findings | Inheritation pattern | Age at last follow-up visit, outcome |
|---|---|---|---|---|---|---|---|---|---|---|---|
Jacobs et al., 2002 | F | At term | Vaginal delivery | 2615 g (10th) / 52 cm (90th) / 32.5 cm (5th-10th) | Yes | Yes | Yes | Not performed | FBN1, T3276C, exon 24 | NA | 3.5 months, died |
Shinawi et al., 2005 | M | At term | Cesarean section | 2880 g (25th) / 56 cm (> 95th) / NA | Yes | Yes | No | Balloon dilatation of pulmonary valve (4 days) | FBN1, IVS31-2 A > G, intron 31 | NA | 4.5 months, died |
Ramaswamy et al., 2006 | NA | At term | NA | 3600 (75th) / 52 cm (75th) | Yes | Yes | Yes | Mitral valve repair (10 months) | NA | NA | 15 months, alive |
Sutherell et al., 2007 | M | At term | NA | 3300 (25th) / 51.5 cm (75th) / 34.5 cm (25th) | Yes | Yes | Yes | Medical treatment | FBN1, novel missense mutation, c.3256T > C, exon 26 | De novo | 4 days, died |
Tekin et al., 2007 | M | 40 | NA | 3650 g (50th) / NA / NA | Yes | Yes | Yes | Medical treatment | NA | NA | 3 months, died |
Kochilas et al., 2008 | F | 37 | Cesarean section | 2900 g / NA / NA | Yes | Yes | Yes | Palliative care | FBN1, heterozygous 3256T > C, exon 26 | De novo | 69 days, died |
Brito-Filho et al., 2013 | M | At term | Cesarean section | 3630 g / 51 cm / NA | Yes | Yes | Yes | Bentall-De Bono procedure (2 years), two mitral valve replacements (4 and 7 years) | NA | NA | 7 years, alive |
Šípek Jr. et al., 2014 | F | 40 | Vaginal delivery | 3670 (75th) / 53 cm (97th) / 34,5 (50th) | Yes | Yes | No | Medical treatment | FBN1, novel intronic c.4211-32_-13 del mutation, exon 35 | Maternally inherited (mosaicism) | 7 months, died |
Elshershari & Harris, 2014 | M | At term | NA | 3200 g (25th) / 51 cm (50th) / NA | Yes | No | Yes | Medical treatment | FBN1, a heterozygous c.3959G. A, exon 31 | Paternally inherited | 3 months, alive |
Amado et al., 2014 | F | 38 | Cesarean section | 3130 g (25th) / 46.5 cm (5-10th) / 35.5 cm (50-75th) | Yes | Yes | Yes | Mitral valvuloplasty (6 months) | FBN1, c.3458 G > A, exon 26 | De novo | 2 years and 10 months, alive |
Ozyurt et al., 2015 | F | 39 | Vaginal delivery | NA / NA / NA | Yes | Yes | Yes | Medical treatment | Not performed | NA | 68 days, died |
Bhutia et al., 2016 | NA | At term | Vaginal delivery | NA / NA / NA | Yes | Yes | Yes | Medical treatment | Not performed | NA | 3 months, died |
Kitahara et al., 2016 | M | 38 | Cesarean section | 2295 g / 43.7 cm / NA | Yes | No | Yes | Mitral commissuroplasty (18 months), palliative procedure (3 years and 8 months) | NA | NA | 11 years, alive |
Le Gloan et al., 2016 | F | 39 | Cesarean section | 2950 g (-0.5 SD) / 50 cm (0 SD) / 33.5 cm (-1 SD) | Yes | Yes | Yes | Mitral and tricuspid valve annuloplasty (2 months) | FBN1, intronic mutation c.6163 + 3_6163 + 6del, exon 49 | Maternally inherited | 4 months, died |
Maeda, 2016 | M | 40 | NA | 3768 g (90-97th) / 52.9 cm (> 97th) / NA | Yes | No | Yes | Medical treatment | FBN1, missense mutation (c. 3217 G > A), exon 26 | NA | 7 months, died |
Maeda, 2016 | F | 37 | Cesarean section | 2850 g (25-50th) / NA / NA | Yes | Yes | No | Mitral and tricuspid valve annuloplasty (5 months); mitral valve replacement(12 months) | FBN1, exon-skipping mutation (c.IVS29 + 1G > A), exon 29 | NA | 22 months, died |
Maeda, 2016 | F | 37 | Cesarean section | 2592 g (10-25th) / 50 cm (50-75th) / NA | Yes | Yes | No | Mitral and tricuspid valve annuloplasty (1 month) | FBN1, exon-skipping mutation (c.IVS30 + 1G > A), exon 30 | NA | 2 months, died |
Peng et al., 2016 | F | At term | Vaginal delivery | 2600 g / NA / NA | Yes | Yes | Yes | NA | FBN1 missense mutation c.3331 T > C (p.Cys1111Arg), exon 26 | De novo | 8 months, alive |
Heo et al., 2017 | M | 36 | Vaginal delivery | 3000 g (75-90th) / 54.5 cm (> 99th) / 35.5 cm (99th) | Yes | No | Yes | Surgical repair of rupture of mitral chordae (6 months) | FBN1, missense mutation (c. 3217 G > A), exon 26 | NA | NA |
Solé-Ribalta et al., 2019 | NA | 36 | NA | NA / NA / NA | Yes | Yes | Yes | Palliative care | FBN1, heterozygous mutation (NM_000138.4): c.[3208 + 5G > A) | De novo | 1 month, died |
Tognato et al., 2019 | M | At term | Cesarean section | 3690 g (70th) / 56 cm (100th) / 36 cm (86th) | Yes | Yes | Yes | Mitral and tricuspidal valvuloplasty (11 months) | FBN1, heterozygous mutation c.3143 T > C (p.Ile1048Thr) w | NA | 3 months, alive |
Wojcik et al., 2019 | NA | 40 | Vaginal delivery | NA | Yes | No | Yes | Aortic root replacement (3 months); mitral and tricuspid annuloplasty (12 months) | FBN1, heterozygous 385 bp deletion[GRCh38, exon 33 | De novo | 3 years, died |
Veiga-Fernández et al., 2020 | NA | 37 | Cesarean section | 2530 g / NA / NA | Yes | No | No | Palliative care | NA | NA | 3 months, died |
Postma et al., 2021 | F | 32 | Cesarean section | 1710 g / NA / NA | Yes | Yes | Yes | Mitral annuloplasty and tricuspid commisuroplast (7 months) | FBN1, heterozygous splice site variant, IVS21 + 2T > C, exon15 | Paternally inherited | 14months, died |
Yoon and Kong, 2021 | M | 40 | Cesarean section | 3560 g (75th) / 56.5 cm (90th) / 36 cm (90th) | Yes | No | No/Yes | Palliative care | FBN1, c.3964 + 1G > T, exon 32 | NA | 32 days, died |
Motonaga et al., 2022 | F | 40 | Vaginal delivery | 3008 g / NA / NA | Yes | No | Yes | Mitral valve replacement (6 months) | FBN1,heterozygous missense variant (c.3379G > T), exon27 | De novo | 16 years, alive |
Kawamura et al., 2022 | M | 38 | Vaginal delivery | NA | Yes | Yes | No | Mitral and tricuspid valvuloplasty (6 months); mitral valve and tricuspid valve replacement (7 months) | FBN1, heterozygous missense variant of c.3706T > C (p. Cys1236Arg), exon 29 | NA | 13 months, alive |