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Loeys-Dietz syndrome: life threatening aortic dissection diagnosed on routine family screening
by
Martin, Claire A
, Cooper, John P
, Clowes, Virginia E
in
Aneurysms
/ Asthma
/ Coronary vessels
/ Diagnosis, Differential
/ Disease
/ Dissection
/ Echocardiography
/ Family medical history
/ Growth factors
/ Humans
/ Loeys-Dietz Syndrome - diagnosis
/ Loeys-Dietz Syndrome - genetics
/ Loeys-Dietz Syndrome - surgery
/ Male
/ Middle Aged
/ Mutation
/ Pain
/ Pedigree
/ Physicians
/ Protein Serine-Threonine Kinases - genetics
/ Receptor, Transforming Growth Factor-beta Type I
/ Receptors, Transforming Growth Factor beta - genetics
/ Surgery
/ Tomography, X-Ray Computed
/ United Kingdom
/ Unusual Presentation of More Common Disease/Injury
/ White
2014
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Loeys-Dietz syndrome: life threatening aortic dissection diagnosed on routine family screening
by
Martin, Claire A
, Cooper, John P
, Clowes, Virginia E
in
Aneurysms
/ Asthma
/ Coronary vessels
/ Diagnosis, Differential
/ Disease
/ Dissection
/ Echocardiography
/ Family medical history
/ Growth factors
/ Humans
/ Loeys-Dietz Syndrome - diagnosis
/ Loeys-Dietz Syndrome - genetics
/ Loeys-Dietz Syndrome - surgery
/ Male
/ Middle Aged
/ Mutation
/ Pain
/ Pedigree
/ Physicians
/ Protein Serine-Threonine Kinases - genetics
/ Receptor, Transforming Growth Factor-beta Type I
/ Receptors, Transforming Growth Factor beta - genetics
/ Surgery
/ Tomography, X-Ray Computed
/ United Kingdom
/ Unusual Presentation of More Common Disease/Injury
/ White
2014
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Loeys-Dietz syndrome: life threatening aortic dissection diagnosed on routine family screening
by
Martin, Claire A
, Cooper, John P
, Clowes, Virginia E
in
Aneurysms
/ Asthma
/ Coronary vessels
/ Diagnosis, Differential
/ Disease
/ Dissection
/ Echocardiography
/ Family medical history
/ Growth factors
/ Humans
/ Loeys-Dietz Syndrome - diagnosis
/ Loeys-Dietz Syndrome - genetics
/ Loeys-Dietz Syndrome - surgery
/ Male
/ Middle Aged
/ Mutation
/ Pain
/ Pedigree
/ Physicians
/ Protein Serine-Threonine Kinases - genetics
/ Receptor, Transforming Growth Factor-beta Type I
/ Receptors, Transforming Growth Factor beta - genetics
/ Surgery
/ Tomography, X-Ray Computed
/ United Kingdom
/ Unusual Presentation of More Common Disease/Injury
/ White
2014
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Loeys-Dietz syndrome: life threatening aortic dissection diagnosed on routine family screening
Journal Article
Loeys-Dietz syndrome: life threatening aortic dissection diagnosed on routine family screening
2014
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Overview
A 52-year-old man was found to have a severely dilated aortic root and a Stanford type A dissection on familial screening echocardiography, following diagnosis of a dilated aorta in his son. The dissection required urgent surgical repair. Clinical examination suggested features of Loeys-Dietz syndrome type II, and subsequent demonstration of a mutation in the TGFBR1 gene in the patient and his son confirmed the diagnosis. This article highlights the high prevalence of inherited conditions in dilated aortic root presentations and the importance of family screening and surveillance to allow early surgical intervention.
Publisher
BMJ Publishing Group LTD,BMJ Publishing Group
Subject
/ Asthma
/ Disease
/ Humans
/ Loeys-Dietz Syndrome - diagnosis
/ Loeys-Dietz Syndrome - genetics
/ Loeys-Dietz Syndrome - surgery
/ Male
/ Mutation
/ Pain
/ Pedigree
/ Protein Serine-Threonine Kinases - genetics
/ Receptor, Transforming Growth Factor-beta Type I
/ Receptors, Transforming Growth Factor beta - genetics
/ Surgery
/ Unusual Presentation of More Common Disease/Injury
/ White
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