Multimedialna platforma wiedzy medycznej Internetowa Księgarnia Medyczna Kalendarium Konferencji
Arterial Hypertension
MENU
Shortcuts Submit an article Author Guidelines Ahead Of Print Reviewers 2023

open access

Vol 21, No 4 (2017)
Original paper
Published online: 2017-10-20
View PDF Download PDF file
Get Citation

Assessment of arterial stiffness in Marfan syndrome and marfanoid phenotype

Paulina Kowalska1, Natalia Sobczyk1, Paulina Furman1, Joanna Kulczycka1, Joanna Wdowczyk2, Robert Sabiniewicz1, Lidia Woźniak-Mielczarek1
DOI: 10.5603/AH.a2017.0022
·
Arterial Hypertension 2017;21(4):180-185.
Affiliations
  1. Klinika Kardiologii Dziecięcej i Wad Wrodzonych Serca, Gdański Uniwersytet Medyczny, ul. Dębinki 7, 80-211 Gdańsk, Poland
  2. I Klinika Kardiologii, Gdański Uniwersytet Medyczny, ul. Dębinki 7, 80-211 Gdańsk, Poland

open access

Vol 21, No 4 (2017)
ORIGINAL PAPERS
Published online: 2017-10-20

Abstract

Introduction. Marfan syndrome is a hereditary connective tissue disorder caused by impaired synthesis of a fibrillin protein. This results in a broad spectrum of clinical manifestations, in particular cardiovascular, skeletal and ocular features. Marfanoid phenotype is defined as manifesting some features of Marfan syndrome, but not fulfilling the criteria of the diagnosis. Abnormal synthesis of the fibrillin is the reason of impairment of elastic fibers. This effects in increasing arterial stiffness, which can be characterized by pulse wave velocity (PWV) and augmentation index (AI). Material and methods. Study included 72 patients suspected of Marfan syndrome. On the basis of modified Ghent criteria they were divided into two groups: 37 patients were diagnosed with Marfan syndrome and 35 patients were classified as marfanoid phenotype. Research included also 36 healthy controls. PWV and AI values were obtained by applanation tonometry method. Results. Mean PWV is higher in Marfan syndrome rather than marfanoid phenotype and healthy controls. The lowest mean value of PWV was found among patients with marfanoid phenotype. The highest mean AI value was presented in Marfan syndrome. The lowest mean AI was obtained in a group with marfanoid phenotype. Conclusions. Patients with Marfan syndrome are presenting higher values of PWV and AI than patients with marfanoid phenotype or healthy controls. The lowest values of PWV and AI were obtained among patients with marfanoid phenotype. Patients like these are taller than the others, however, their arterial walls most likely have correct structure, which causes beneficial hemodynamic conditions.

Abstract

Introduction. Marfan syndrome is a hereditary connective tissue disorder caused by impaired synthesis of a fibrillin protein. This results in a broad spectrum of clinical manifestations, in particular cardiovascular, skeletal and ocular features. Marfanoid phenotype is defined as manifesting some features of Marfan syndrome, but not fulfilling the criteria of the diagnosis. Abnormal synthesis of the fibrillin is the reason of impairment of elastic fibers. This effects in increasing arterial stiffness, which can be characterized by pulse wave velocity (PWV) and augmentation index (AI). Material and methods. Study included 72 patients suspected of Marfan syndrome. On the basis of modified Ghent criteria they were divided into two groups: 37 patients were diagnosed with Marfan syndrome and 35 patients were classified as marfanoid phenotype. Research included also 36 healthy controls. PWV and AI values were obtained by applanation tonometry method. Results. Mean PWV is higher in Marfan syndrome rather than marfanoid phenotype and healthy controls. The lowest mean value of PWV was found among patients with marfanoid phenotype. The highest mean AI value was presented in Marfan syndrome. The lowest mean AI was obtained in a group with marfanoid phenotype. Conclusions. Patients with Marfan syndrome are presenting higher values of PWV and AI than patients with marfanoid phenotype or healthy controls. The lowest values of PWV and AI were obtained among patients with marfanoid phenotype. Patients like these are taller than the others, however, their arterial walls most likely have correct structure, which causes beneficial hemodynamic conditions.

Full Text:

View PDF Download PDF file
Get Citation

Keywords

Marfan syndrome, marfanoid phenotype, arterial stiffness, pulse wave velocity, augmentation index, applanation tonometry

About this article
Title

Assessment of arterial stiffness in Marfan syndrome and marfanoid phenotype

Journal

Arterial Hypertension

Issue

Vol 21, No 4 (2017)

Article type

Original paper

Pages

180-185

Published online

2017-10-20

Page views

1081

Article views/downloads

862

DOI

10.5603/AH.a2017.0022

Bibliographic record

Arterial Hypertension 2017;21(4):180-185.

Keywords

Marfan syndrome
marfanoid phenotype
arterial stiffness
pulse wave velocity
augmentation index
applanation tonometry

Authors

Paulina Kowalska
Natalia Sobczyk
Paulina Furman
Joanna Kulczycka
Joanna Wdowczyk
Robert Sabiniewicz
Lidia Woźniak-Mielczarek

References (21)
  1. Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics. Pediatrics. 1996; 98(5): 978–982.
    PubMed
  2. Faivre L, Collod-Beroud G, Callewaert B, et al. Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. Eur J Hum Genet. 2009; 17(4): 491–501.
    CrossRefPubMed
  3. Sakai LY, Keene DR, Renard M, et al. FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. Gene. 2016; 591(1): 279–291.
    CrossRefPubMed
  4. Gajewski P. Interna Szczeklika. Medycyna Praktyczna, Kraków 2017.
  5. Dietz HC. Potential Phenotype-Genotype Correlation in Marfan Syndrome: When Less is More? Circ Cardiovasc Genet. 2015; 8(2): 256–260.
    CrossRefPubMed
  6. Franke A, Mühler EG, Klues HG, et al. Detection of abnormal aortic elastic properties in asymptomatic patients with Marfan syndrome by combined transoesophageal echocardiography and acoustic quantification. Heart. 1996; 75(3): 307–311.
    CrossRefPubMed
  7. Akazawa Y, Motoki N, Tada A, et al. Decreased Aortic Elasticity in Children With Marfan Syndrome or Loeys-Dietz Syndrome. Circulation Journal. 2016; 80(11): 2369–2375.
    CrossRef
  8. Baumgartner D, Baumgartner C, Mátyás G, et al. Diagnostic power of aortic elastic properties in young patients with Marfan syndrome. J Thorac Cardiovasc Surg. 2005; 129(4): 730–739.
    CrossRefPubMed
  9. Wagenseil JE, Mecham RP. Elastin in large artery stiffness and hypertension. J Cardiovasc Transl Res. 2012; 5(3): 264–273.
    CrossRefPubMed
  10. Grillo A, Pini A, Marelli S, et al. 5B.05: MARFAN SYNDROME: ASSESSMENT OF AORTIC DISSECTION RISK BY ANALYSIS OF AORTIC VISCOELASTIC PROPERTIES. J Hypertens. 2015; 33 Suppl 1: e67.
    CrossRefPubMed
  11. Molisz A, Faściszewska M, Wożakowska-Kapłon B, et al. Prędkość fali tętna — wartości referencyjne i zastosowanie. Folia Cardiol. 2015; 10(4): 268–274.
    CrossRef
  12. Payne RA, Hilling-Smith RC, Webb DJ, et al. Augmentation index assessed by applanation tonometry is elevated in Marfan Syndrome. J Cardiothorac Surg. 2007; 2: 43.
    CrossRefPubMed
  13. Siebert J, Molisz A. editors. Centralne ciśnienie tętnicze-tonometria aplanacyjna. Forum Medycyny Rodzinnej. 2010.
  14. Stróżecki P, Manitius J. Ocena powtarzalności pomiarów prędkości aortalnej fali tętna. Arterial Hypertension. 2009; 13(5): 327–35.
  15. Kubalski P, Manitius J. Sztywność tętnic, ciśnienie centralne, współczynnik wzmocnienia-kompendium nie tylko dla hipertensjologa. Choroby Serca i Naczyń. 2008; 5(2): 61–7.
  16. Mancia G, Fagard R, Narkiewicz K, et al. Task Force Members. 2013 ESH/ESC Guidelines for the management of arterial hypertension: the Task Force for the management of arterial hypertension of the European Society of Hypertension (ESH) and of the European Society of Cardiology (ESC). J Hypertens. 2013; 31(7): 1281–1357.
    CrossRefPubMed
  17. Brown MJ. Similarities and differences between augmentation index and pulse wave velocity in the assessment of arterial stiffness. QJM. 1999; 92(10): 595–600.
    CrossRefPubMed
  18. Jondeau G, Boutouyrie P, Lacolley P, et al. Central pulse pressure is a major determinant of ascending aorta dilation in Marfan syndrome. Circulation. 1999; 99(20): 2677–2681.
    CrossRefPubMed
  19. Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010; 47(7): 476–485.
    CrossRefPubMed
  20. Dyer AR, Elliott P. The INTERSALT study: relations of body mass index to blood pressure. INTERSALT Co-operative Research Group. J Hum Hypertens. 1989; 3(5): 299–308.
    PubMed
  21. Kurpesa M, Rechciński T, Trzos E. Wpływ przewlekłego leczenia statyną na podatność tętnic w samoistnym nadciśnieniu tętniczym. Cardiol J. 2004; 11(12): 929–37.

Regulations

Important: This website uses cookies. More >>

The cookies allow us to identify your computer and find out details about your last visit. They remembering whether you've visited the site before, so that you remain logged in - or to help us work out how many new website visitors we get each month. Most internet browsers accept cookies automatically, but you can change the settings of your browser to erase cookies or prevent automatic acceptance if you prefer.

By VM Media Group sp. z o.o., Grupa Via Medica, ul. Świętokrzyska 73, 80–180 Gdańsk

tel.:+48 58 320 94 94, faks:+48 58 320 94 60, e-mail: viamedica@viamedica.pl