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, Jahrgang 39, Nr. 1, 02.2010, S. 17-32.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Review › Forschung
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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 -