Practical Genetics of Thoracic Aortic Aneurysm

被引：24

作者：

Elefteriades, John A. ^{[1
]}

Pomianowski, Pawel ^{[1
]}

机构：

[1] Yale Univ, Sch Med, Aort Inst Yale New Haven, New Haven, CT 06510 USA

来源：

PROGRESS IN CARDIOVASCULAR DISEASES | 2013年 / 56卷 / 01期

关键词：

Aneurysm; Genetics; Mutations; Aortic dissection; Marfan disease; Bicuspid aortic valve; DISSECTIONS;

D O I：

10.1016/j.pcad.2013.06.002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

This chapter will provide a practical look at the rapidly evolving field regarding the genetics of thoracic aortic aneurysm. It will start with a look at the history of the genetics of thoracic aortic aneurysm and will then move on to elucidating the discovery of familial patterns of thoracic aortic aneurysm. We will next review the Mendelian genetics of transmission of thoracic aortic aneurysm. We will move on to the molecular genetics at the DNA level and finish with a discussion of the molecular genetics at the RNA level, including a promising investigational "RNA Signature" test that we have been developing at Yale. (C) 2013 Elsevier Inc. All rights reserved.

引用

页码：57 / 67

页数：11

共 14 条

[1] Ascending thoracic aneurysms are associated with decreased systemic atherosclerosis [J].

Achneck, H ;

Modi, B ;

Shaw, C ;

Rizzo, J ;

Albornoz, G ;

Fusco, D ;

Elefteriades, J .

CHEST, 2005, 128 (03) :1580-1586

[2] Familial thoracic aortic aneurysms and dissections - Incidence, modes of inheritance, and phenotypic patterns [J].

Albornoz, Gonzalo ;

Coady, Michael A. ;

Roberts, Michele ;

Davies, Ryan R. ;

Tranquilli, Maryann ;

Rizzo, John A. ;

Elefteriades, John A. .

ANNALS OF THORACIC SURGERY, 2006, 82 (04) :1400-1406

[3] Familial thoracic aortic dilatations and dissections: A case control study [J].

Biddinger, A ;

Rocklin, M ;

Coselli, J ;

Milewicz, DM .

JOURNAL OF VASCULAR SURGERY, 1997, 25 (03) :506-511

[4]

Chau K, SILVER LINING UNPUB

[5] Generation of human vascular smooth muscle subtypes provides insight into embryological origin-dependent disease susceptibility [J].

Cheung, Christine ;

Bernardo, Andreia S. ;

Trotter, Matthew W. B. ;

Pedersen, Roger A. ;

Sinha, Sanjay .

NATURE BIOTECHNOLOGY, 2012, 30 (02) :165-173

[6] Familial patterns of thoracic aortic aneurysms [J].

Coady, MA ;

Davies, RR ;

Roberts, M ;

Goldstein, LJ ;

Rogalski, MJ ;

Rizzo, JA ;

Hammond, GL ;

Kopf, GS ;

Elefteriades, JA .

ARCHIVES OF SURGERY, 1999, 134 (04) :361-367

[7] Matrix-dependent perturbation of TGFβ signaling and disease [J].

Doyle, Jefferson J. ;

Gerber, Elizabeth E. ;

Dietz, Harry C. .

FEBS LETTERS, 2012, 586 (14) :2003-2015

[8] Cellular and molecular mechanisms of thoracic aortic aneurysms [J].

El-Hamamsy, Ismail ;

Yacoub, Magdi H. .

NATURE REVIEWS CARDIOLOGY, 2009, 6 (12) :771-786

[9] Carotid Intima-Media Thickness Provides Evidence that Ascending Aortic Aneurysm Protects against Systemic Atherosclerosis [J].

Hung, Adelina ;

Zafar, Mohammad ;

Mukherjee, Sandip ;

Tranquilli, Maryann ;

Scoutt, Leslie M. ;

Elefteriades, John A. .

CARDIOLOGY, 2012, 123 (02) :71-77

[10] Concurrent Intracranial and Thoracic Aortic Aneurysms [J].

Kuzmik, Gregory A. ;

Feldman, Marina ;

Tranquilli, Maryann ;

Rizzo, John A. ;

Johnson, Michele ;

Elefteriades, John A. .

AMERICAN JOURNAL OF CARDIOLOGY, 2010, 105 (03) :417-420

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