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Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions?

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Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions? / von Kodolitsch, Y; Rybczynski, M; Bernhardt, A; Mir, T S; Treede, H; Dodge-Khatami, A; Robinson, P N; Sheikhzadeh, S; Reichenspurner, H; Meinertz, T.

In: VASA, Vol. 39, No. 1, 02.2010, p. 17-32.

Research output: SCORING: Contribution to journal › SCORING: Review article › Research

Harvard

von Kodolitsch, Y, Rybczynski, M, Bernhardt, A, Mir, TS, Treede, H, Dodge-Khatami, A, Robinson, PN, Sheikhzadeh, S, Reichenspurner, H & Meinertz, T 2010, 'Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions?', VASA, vol. 39, no. 1, pp. 17-32. https://doi.org/10.1024/0301-1526/a000002

APA

von Kodolitsch, Y., Rybczynski, M., Bernhardt, A., Mir, T. S., Treede, H., Dodge-Khatami, A., Robinson, P. N., Sheikhzadeh, S., Reichenspurner, H., & Meinertz, T. (2010). Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions? VASA, 39(1), 17-32. https://doi.org/10.1024/0301-1526/a000002

Vancouver

von Kodolitsch Y, Rybczynski M, Bernhardt A, Mir TS, Treede H, Dodge-Khatami A et al. Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions? VASA. 2010 Feb;39(1):17-32. https://doi.org/10.1024/0301-1526/a000002

Bibtex

@article{0325cfba290041c7851ea878bd7b4644,
title = "Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions?",
abstract = "Marfan syndrome (MFS) is a disorder of the connective tissue that is inherited in an autosomal dominant fashion and that is classically caused by mutations in the gene coding for fibrillin-1, FBN1. The high mortality of untreated MFS results almost exclusively from aortic complications such as aortic dissection and rupture. However, more than half of patients with Marfan-like features do not have MFS, but have other diseases including inherited aortic aneurysms and dissections (TAAD). We elucidate the increasing spectrum of syndromes associated with Marfan-like features and discuss the clinical implications of these diseases. We performed a systematic review to tabulate all known inherited diseases and syndromes carrying a risk for thoracic aortic disease. We discuss evidence that different syndromes with different causative genes and mutations have different prognoses and profiles of cardiovascular manifestations. We conclude that future decisions for optimized management of patients with inherited TAAD require a comprehensive clinical and genetic work-up.",
keywords = "Abnormalities, Multiple/diagnosis, Aneurysm, Dissecting/complications, Aorta, Thoracic/pathology, Aortic Aneurysm, Thoracic/complications, Aortic Diseases/complications, Arrhythmias, Cardiac/epidemiology, Genes, Dominant, Heart Failure/epidemiology, Humans, Marfan Syndrome/complications, Risk Factors, Sleep Apnea, Obstructive/epidemiology",
author = "{von Kodolitsch}, Y and M Rybczynski and A Bernhardt and Mir, {T S} and H Treede and A Dodge-Khatami and Robinson, {P N} and S Sheikhzadeh and H Reichenspurner and T Meinertz",
year = "2010",
month = feb,
doi = "10.1024/0301-1526/a000002",
language = "English",
volume = "39",
pages = "17--32",
journal = "VASA",
issn = "0301-1526",
publisher = "Hans Huber",
number = "1",

}

RIS

TY - JOUR

T1 - Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions?

AU - von Kodolitsch, Y

AU - Rybczynski, M

AU - Bernhardt, A

AU - Mir, T S

AU - Treede, H

AU - Dodge-Khatami, A

AU - Robinson, P N

AU - Sheikhzadeh, S

AU - Reichenspurner, H

AU - Meinertz, T

PY - 2010/2

Y1 - 2010/2

N2 - Marfan syndrome (MFS) is a disorder of the connective tissue that is inherited in an autosomal dominant fashion and that is classically caused by mutations in the gene coding for fibrillin-1, FBN1. The high mortality of untreated MFS results almost exclusively from aortic complications such as aortic dissection and rupture. However, more than half of patients with Marfan-like features do not have MFS, but have other diseases including inherited aortic aneurysms and dissections (TAAD). We elucidate the increasing spectrum of syndromes associated with Marfan-like features and discuss the clinical implications of these diseases. We performed a systematic review to tabulate all known inherited diseases and syndromes carrying a risk for thoracic aortic disease. We discuss evidence that different syndromes with different causative genes and mutations have different prognoses and profiles of cardiovascular manifestations. We conclude that future decisions for optimized management of patients with inherited TAAD require a comprehensive clinical and genetic work-up.

AB - Marfan syndrome (MFS) is a disorder of the connective tissue that is inherited in an autosomal dominant fashion and that is classically caused by mutations in the gene coding for fibrillin-1, FBN1. The high mortality of untreated MFS results almost exclusively from aortic complications such as aortic dissection and rupture. However, more than half of patients with Marfan-like features do not have MFS, but have other diseases including inherited aortic aneurysms and dissections (TAAD). We elucidate the increasing spectrum of syndromes associated with Marfan-like features and discuss the clinical implications of these diseases. We performed a systematic review to tabulate all known inherited diseases and syndromes carrying a risk for thoracic aortic disease. We discuss evidence that different syndromes with different causative genes and mutations have different prognoses and profiles of cardiovascular manifestations. We conclude that future decisions for optimized management of patients with inherited TAAD require a comprehensive clinical and genetic work-up.

KW - Abnormalities, Multiple/diagnosis

KW - Aneurysm, Dissecting/complications

KW - Aorta, Thoracic/pathology

KW - Aortic Aneurysm, Thoracic/complications

KW - Aortic Diseases/complications

KW - Arrhythmias, Cardiac/epidemiology

KW - Genes, Dominant

KW - Heart Failure/epidemiology

KW - Humans

KW - Marfan Syndrome/complications

KW - Risk Factors

KW - Sleep Apnea, Obstructive/epidemiology

U2 - 10.1024/0301-1526/a000002

DO - 10.1024/0301-1526/a000002

M3 - SCORING: Review article

C2 - 20186673

VL - 39

SP - 17

EP - 32

JO - VASA

JF - VASA

SN - 0301-1526

IS - 1

ER -