Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome

Autor: Ester Capecchi, Roberta Villa, Alessandro Pini, Maria Iascone, Laura Messina, Paola Francesca Ajmone, Fabio Mosca, Silvana Gangi, Maria Francesca Bedeschi

Publikováno v: Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-6 (2024)

Abstract Background congenital diaphragmatic hernia (CDH) is a birth defect occurring in isolated or syndromic (chromosomal or monogenic) conditions. The diaphragmatic defect can be the most common one: left-sided posterolateral, named Bochdalek hern

Externí odkaz: https://doaj.org/article/75390b1be2584519bcf34ff6a4e4f2e3

Aggressive Aortopathy in neonatal Marfan syndrome

Autor: Kenneth G. Zahka, Laura D’Addese, Rukmini Komarlu

Publikováno v: Journal of Congenital Cardiology, Vol 3, Iss 1, Pp 1-4 (2019)

Background Neonatal Marfan syndrome is a rare, severe form of Marfan syndrome with a poor prognosis. Surgical intervention to address massive aortic root dilatation is uncommon as dissection rarely occurs, and death invariably results from congestive

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3c3839de517c5c6b86952aacfa6d1de
https://doi.org/10.1186/s40949-019-0026-5

The effect of losartan therapy on ventricular function in Marfan patients with haploinsufficient or dominant negative FBN1 mutations

Autor: Aeilko H. Zwinderman, V. de Waard, Anje M. Spijkerboer, Janneke Timmermans, M. P. Van Den Berg, M. Groenink, Arthur J.H.A. Scholte, A.W. den Hartog, Gerard Pals, Romy Franken, B.J.M. Mulder

Publikováno v: Netherlands heart journal, 24(11), 675-681. Bohn Stafleu van Loghum
Netherlands Heart Journal, 24(11), 675-681
Netherlands Heart Journal, 24(11), 675-681. Bohn, Stafleu, Van Loghum
Netherlands Heart Journal, 24(11), 675-681. Bohn Stafleu van Loghum
Netherlands Heart Journal
Netherlands Heart Journal, 24, 11, pp. 675-681
Netherlands Heart Journal, 24, 675-681

Contains fulltext : 171721.pdf (Publisher’s version ) (Open Access) BACKGROUND: Mild biventricular dysfunction is often present in patients with Marfan syndrome. Losartan has been shown to reduce aortic dilatation in patients with Marfan syndrome.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c15a56855fd1fce874442aa1811ecc25
https://doi.org/10.1007/s12471-016-0905-8

Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome

Autor: Romy Franken, Maarten P. van den Berg, Maarten Groenink, Arthur J. Scholte, Vivian de Waard, Alessandra Maugeri, Alexander W. den Hartog, Gerard Pals, Dimitra Micha, Barbara J.M. Mulder, Aeilko H. Zwinderman, Janneke Timmermans, Fleur S van Dijk, Hanne Meijers-Heijboer, Teodora Radonic

Publikováno v: Circulation. Cardiovascular genetics, 8(2), 383-388. Lippincott Williams and Wilkins
Circulation: Cardiovascular Genetics, 8(2), 383-388
Circulation. Cardiovascular Genetics, 8, 2, pp. 383-8
Circulation-Cardiovascular Genetics, 8(2), 383-388. LIPPINCOTT WILLIAMS & WILKINS
Circulation. Cardiovascular Genetics, 8, 383-8
Circulation-cardiovascular genetics, 8(2), 383-388. Lippincott Williams and Wilkins
Franken, R, den Hartog, A W, Radonic, T, Micha, D, Maugeri, A, van Dijk, F S, Meijers-Heijboer, H E, Timmermans, J, Scholte, A J, van den Berg, M P, Groenink, M, Mulder, B J M, Zwinderman, A H, de Waard, V & Pals, G 2015, ' Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome ', Circulation-cardiovascular genetics, vol. 8, no. 2, pp. 383-388 . https://doi.org/10.1161/CIRCGENETICS.114.000950

Background— It has been shown that losartan reduces aortic dilatation in patients with Marfan syndrome. However, treatment response is highly variable. This study investigates losartan effectiveness in genetically classified subgroups. Methods and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15f46780b1933f04c984dcc4b24d2930
https://hdl.handle.net/1887/99600

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