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CONGENITAL DISORDERS - LABORATORY AND CLINICAL RESEARCH
BICUSPID AORTIC VALVE
DIAGNOSIS, SURGICAL TREATMENT
AND COMPLICATIONS
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liability is assumed for incidental or consequential damages in connection with or arising out of information
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rendering legal, medical or any other professional services.
CONGENITAL DISORDERS -
LABORATORY AND
CLINICAL RESEARCH
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CONGENITAL DISORDERS - LABORATORY AND CLINICAL RESEARCH
BICUSPID AORTIC VALVE
DIAGNOSIS, SURGICAL TREATMENT
AND COMPLICATIONS
ANTHONY CHAPMAN
EDITOR
New York
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Copyright © 2015 by Nova Science Publishers, Inc.
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Library of Congress Cataloging-in-Publication Data
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Published by Nova Science Publishers, Inc. † New York
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Contents
Preface vii
Chapter 1 Bicuspid Aortic Valve Syndrome:
From the Etiology to the Surgical
Strategies of Treatment 1
Paolo Nardi, MD, PhD, Marco Russo, MD,
Antonio Pellegrino, MD, and Luigi Chiariello, MD
Chapter 2 Genetic Influences on Phenotype in Bicuspid
Aortic Valve: Screening, Diagnosis and Prognosis 23
Catherine Francis and John Pepper
Chapter 3 Genetic Basis, Pathogenesis and Histopathology
of Aortopathy in Bicuspid Aortic Valve and
Marfan syndrome 55
Junfeng Yan, Ann-Cathrin Lehsau,
Pamela Lazar-Karsten, Detlev Schult-Badusche,
Luc Mertens, Bart L. Loeys and Salah A. Mohamed
Index 83
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Preface
Bicuspid aortic valve (BAV) is the most common congenital pathology of
the aortic valve occurring in 0.5-2% of the general population and frequently
requiring surgical management after the fourth decade of life. From the
etiology to the surgical management of BAV is analyzed. Other chapters
review genome-wide association studies, linkage analyses and next-generation
sequencing studies, which are beginning to build a more comprehensive
picture of the genetic bases of BAV. The prospects for developing tools for
genetic screening of families and for risk stratification are explored as well,
including the future steps which are necessary for the creation of an
individualized approach to managing BAV. The last chapter is a review of the
present understanding of ascending thoracic aortic aneurysm pathogenesis.
The genetic basis and basic pathology underlying BAV and ascending thoracic
aortic aneurysms are discussed as well, and are compared to known
mechanisms underlying other aortopathologies.
Chapter 1 - Bicuspid aortic valve (BAV) is the most common congenital
pathology of the aortic valve, occurring in 0.5-2% of the general population
and frequently requiring surgical management after the fourth decade of
human life. The natural history of patients with BAV regards the development
of aortic valve disease, i.e. aortic stenosis, insufficiency or endocarditis. For
these reasons, up to 25% of patients with BAV need for surgical correction.
Moreover, the association between BAV and aortic pathology has been
described in several studies, such as ascending aorta aneurysm, acute aortic
dissection or rupture. Many controversies have been analyzed for a complete
clarification of reasons of this association: dilatation of proximal aorta in
patients with BAV could be secondary to hemodynamic effects related to flow
alterations through abnormal aortic valve or to a primary manifestation of a
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Anthony Chapman
viii
complex genetic disorder involving both aortic valve and aortic wall. The term
“bicuspid aortic valve syndrome” indicates the heterogeneous spectrum of
valvular and ascending aorta disease.
Surgical approach to patients with BAV-related aortic disease represents a
challenge for cardiac surgeons. The best surgical management and the timing
of operation remain unclear, and many studies report different results.
Replacement of the valve and/or the aorta can be performed with very low
mortality and morbidity, and in the past 20 years valve repair has become an
additional option in the presence of mild-to-moderate insufficiency of BAV.
Patients with BAV disease are usually younger than patients with degenerative
disease affecting a tricuspid aortic valve, and for this reason the optimal
treatment is aimed to reach the goal of optimal long-term results in terms of
freedom from valve reoperation and complications.
In the author’s experience at the Cardiac Surgery Unit of the Tor Vergata
University of Rome, BAV disease represents 15-20% of patients operated on
for isolated aortic valve replacement. However, this incidence raises up to
35% in presence of ascending aorta dilation requiring surgery.
Different surgical operations have been performed for patients with BAV-
related ascending aorta dilatation: in a seven year period, 150 consecutive
elective patients (mean age 57.6±13.7 years, 116 males) were treated: 46
patients underwent Bentall operation (Group 1; 31%), 77 (51%) separate aortic
valve and ascending aorta replacement and 27 (18%) ascending aorta
replacement only with or without BAV repair. Operative mortality was 2.1%
(n=1) in Group 1, 1.3% (n=1) in Group 2, and absent in Group 3 (p=NS). The
incidence of in-hospital major complications was 4% in Group 1 (n=2), 2.6%
in Group 2 (n=2), and absent in Group 3, (p=NS); pacemaker implantation was
4% (n=2), 1.3% (n=1), and absent, respectively (p=NS). At 5 years, survival
was 94%±4% for Group 1, 92%±3.4% for Group 2, and 100% for Group 3.
Chapter 2 – Bicuspid Aortic Valve (BAV) is a condition which displays
great phenotypic and genotypic variability; a feature which has hindered
identification of discrete genetic influences on phenotype. From a genetic
perspective, cases range from those associated with known syndromes, such as
Turner or Marfan syndromes, to families in whom classic Mendelian patterns
of inheritance are observed, to sporadic de novo cases with no clear
heritability. In addition, the genetic influences on each individual component
of the overall BAV phenotype may be separate and complex. In this chapter,
the authors review the known syndromes and genetic variants associated with
BAV and its complications. They review genome-wide association studies,
linkage analyses and next-generation sequencing studies which are beginning
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