A unique cardiovascular presentation of Marfan syndrome.
Marfan syndrome
cardiovascular
mitral-aortic intervalvular fibrosa
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
08 2022
08 2022
Historique:
revised:
19
04
2022
received:
26
10
2021
accepted:
06
05
2022
pubmed:
10
6
2022
medline:
15
7
2022
entrez:
9
6
2022
Statut:
ppublish
Résumé
We report a neonate with severe Marfan syndrome (MS), prenatally identified to have persistent atrial tachycardia, biventricular dysfunction, and an unusual structure within the atria. Detailed postnatal echocardiographic evaluation and cross-sectional imaging confirmed congenital pseudoaneurysm of the mitral-aortic intervalvular fibrosa. Emergent testing by next-generation sequencing identified a FBN1 pathological variant, key to establishing goals of care. To our knowledge, this is the first reported case of a congenital pseudoaneurysm of the mitral-aortic intervalvular fibrosa in MS.
Identifiants
pubmed: 35679177
doi: 10.1002/ajmg.a.62865
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
2443-2447Informations de copyright
© 2022 Wiley Periodicals LLC.
Références
Alpendurada, F., Wong, J., Kiotsekoglou, A., Banya, W., Child, A., Prasad, S. K., Pennell, D. J., & Mohiaddin, R. H. (2010). Evidence for Marfan cardiomyopathy. European Journal of Heart Failure, 12(10), 1085-1091. https://doi.org/10.1093/eurjhf/hfq127
Collod-Beroud, G., Le Bourdelles, S., Ades, L., Ala-Kokko, L., Booms, P., Boxer, M., Child, A., Comeglio, P., De Paepe, A., Hyland, J. C., Holman, K., Kaitila, I., Loeys, B., Matyas, G., Nuytinck, L., Peltonen, L., Rantamaki, T., Robinson, P., Steinmann, B., … Boileau, C. (2003). Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Human Mutation, 22, 199-208.
De Witte, P., Aalberts, J. J., Radonic, T., Timmermans, J., Scholte, A. J., Zwinderman, A. H., Mulder, B. J., Groenink, M., & van den Berg, M. P. (2011). Intrinsic biventricular dysfunction in Marfan syndrome. Heart, 97(24), 2063-2068. https://doi.org/10.1136/heartjnl-2011-300169
Del Pasqua, A., et al. (2019). Congenital pseudoaneurysm of the mitral-aortic intervalvular fibrosa with a 5 years' follow up. The International Journal of Cardiovascular Imaging, 35(3), 437-438. https://doi.org/10.1007/s10554-018-1459-1
Dietz, H. (2001). Marfan syndrome. Apr 18 [updated 2017 Oct 12]. In M. P. Adam, H. H. Ardinger, R. A. Pagon, et al. (Eds.), GeneReviews® [internet] (pp. 1993-2021). University of Washington, Seattle.
Gott, V. L. (1998). Antoine Marfan and his syndrome: One hundred years later. Maryland Medical Journal, 47(5), 247-252.
Harrington, J. K., Glickstein, J., & Shah, A. (2017). Congenital pseudoaneurysm of the mitral-aortic intervalvular fibrosa: A case report. Cardiology in the Young, 27(8), 1647-1650. https://doi.org/10.1017/S1047951117000890
Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O'Donnell-Luria, A. H., Ware, J. S., Hill, A. J., Cummings, B. B., Tukiainen, T., Birnbaum, D. P., Kosmicki, J. A., Duncan, L. E., Estrada, K., Zhao, F., Zou, J., Pierce-Hoffman, E., Berghout, J., … Exome Aggregation Consortium. (2016). Analysis of protein-coding genetic variation in 60,706 humans. Nature, 536(7616), 285-291. https://doi.org/10.10338/nature19057
Mah, D. Y., Sleeper, L. A., Crosson, J. E., Czosek, R. J., Love, B. A., BW, M. C., Muiño-Mosquera, L., Olson, A. K., Pilcher, T. A., ESS, T., Shah, M. J., Wechsler, S. B., Young, L. T., & Lacro, R. V. (2018). Frequency of ventricular arrhythmias and other rhythm abnormalities in children and young adults with the Marfan syndrome. The American Journal of Cardiology, 122(8), 1429-1436. https://doi.org/10.1016/j.amjcard.2018.07.006
Roman, M. J., Devereux, R. B., Kramer-Fox, R., & Spitzer, M. C. (1989). Comparison of cardiovascular and skeletal features of primary mitral valve prolapse and Marfan syndrome. The American Journal of Cardiology, 63(5), 317-321. https://doi.org/10.1016/0002-9149(89)90338-x
Schrijver, I., Liu, W., Brenn, T., Furthmayr, H., & Francke, U. (1999). Cysteine substitutions in epidermal growth factor-like domains of firbrillin-1: Distinct effect on biochemical and clinical phenotypes. American Journal of Human Genetics, 65(4), 1007-1020. https://doi.org/10.1086/302582
Tekin, M., Cengiz, F. B., Ayberkin, E., Kendirli, T., Fitoz, S., Tutar, E., Çiftçi, E., & Conba, A. (2007). Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene. Am J Med Genet A, Apr 15, 143A(8), 875-880. https://doi.org/10.1002/ajmg.a.31660
Tinkle, B. T. (2013). Committee on health supervision for children with Marfan syndrome. Pediatrics, 132(4), e1059-e1072.
Tognato, E., Perona, A., Aronica, A., Bertola, A., Cimminelli, L., De Vecchi, S., Eshraghy, M. R., Loperfido, B., Vivenza, C., & Manzoni, P. (2019). Neonatal Marfan syndrome. American Journal of Perinatology, 36(S 02), S74-S76. https://doi.org/10.1055/s-0039-1691770