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Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome

Published online by Cambridge University Press:  15 April 2020

Emanuele Monda ,
Adelaide Fusco ,
Daniela Melis ,
Martina Caiazza ,
Felice Gragnano ,
Alfredo Mauriello ,
Annapaola Cirillo ,
Marta Rubino ,
Augusto Esposito  and
Angelina Grammegna
...Show all authors
Emanuele Monda
Affiliation:
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, Naples, Italy
Adelaide Fusco
Affiliation:
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, Naples, Italy
Daniela Melis
Affiliation:
Department of Pediatrics, University of Naples “Federico II”, Naples, Italy
Martina Caiazza
Affiliation:
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, Naples, Italy
Felice Gragnano
Affiliation:
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, Naples, Italy
Alfredo Mauriello
Affiliation:
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, Naples, Italy
Annapaola Cirillo
Affiliation:
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, Naples, Italy
Marta Rubino
Affiliation:
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, Naples, Italy
Augusto Esposito
Affiliation:
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, Naples, Italy
Angelina Grammegna
Affiliation:
Department of Pediatrics, University of Naples “Federico II”, Naples, Italy
Stefano Nistri
Affiliation:
Cardiology Service, CMSR Veneto Medica, Altavilla Vicentina, Italy
Guglielmina Pepe
Affiliation:
Department of Experimental and Clinical Medicine, University of Florence – Regional (Tuscany) Referral Center for Marfan Syndrome and Related Disorders, Careggi Hospital, Firenze, Italy
Paolo Calabrò
Affiliation:
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, Naples, Italy
Pietro Strisciuglio
Affiliation:
Department of Pediatrics, University of Naples “Federico II”, Naples, Italy
Alessandro Della Corte
Affiliation:
Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, Naples, Italy
Guido Oppido
Affiliation:
Monaldi Hospital, AORN Colli, Naples, Italy
Mariagiovanna Russo
Affiliation:
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, Naples, Italy
Giuseppe Limongelli*
Affiliation:
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, Naples, Italy Institute of Cardiovascular Sciences, University College of London and St. Bartholomewʼs Hospital, London, UK
*
Author for correspondence: Giuseppe Limongelli, MD, PhD, FESC, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Via L. Bianchi 1 c/o Monaldi Hospital, AORN Colli, Naples, Italy. Tel: +39 0817062815; Fax: +39 0817064285; E-mail: limongelligiuseppe@libero.it
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Abstract

Background:

Marfan syndrome is an autosomal dominant disorder of the connective tissue, whose cardinal features affect eyes, musculoskeletal, and cardiovascular system. Despite prevalence and natural history of cardiovascular manifestation are well known in adults, little is known about children and young adult patients. The aim of this study was to describe a well-characterised cohort of consecutive children and young patients with marfan syndrome, looking at the impact of family history and presence of bicuspid aortic valve on disease severity.

Methods:

A total of 30 consecutive children and young patients with Marfan syndrome were evaluated. All patients underwent a comprehensive clinical–instrumental–genetic evaluation. Particular attention was posed to identify differences in prevalence of cardiovascular abnormalities between patients with and without family history of Marfan syndrome or bicuspid aortic valve.

Results:

Of these 30 patients, family history of Marfan syndrome and bicuspid aortic valve were present in 76 and 13%, respectively. Compared to patients with family history of Marfan syndrome, those without showed higher prevalence of aortic sinus dilation (87 versus 32%, p-value = 0.009), greater aortic sinus diameters (4.2 ± 2.1 versus 1.9 ± 1.1 z score, p-value = 0.002), and higher rate of aortic surgery during follow-up (37 versus 0%, p-value = 0.002). Compared to patients with tricuspid aortic valve, those with bicuspid aortic valve were younger (3.2 ± 4.3 versus 10.7 ± 6.8 years old, p-value = 0.043), showed greater aortic sinus diameters (4.2 ± 0.9 versus 2.2 ± 1.6 z score, p-value = 0.033), and underwent more frequently aortic root replacement (50 versus 4%, p-value = 0.004).

Conclusions:

In our cohort of patients with Marfan syndrome, the absence of family history and the presence of bicuspid aortic valve were associated to severe aortic phenotype and worse prognosis.

Keywords

Marfan syndromefamily historybicuspid aortic valve
Type
Original Article
Information
Cardiology in the Young , Volume 30 , Issue 5 , May 2020 , pp. 663 - 667
Copyright
© The Author(s) 2020. Published by Cambridge University Press

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Footnotes

*

Emanuele Monda and Adelaide Fusco equally contributed.

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