The Right Ventricle in Adults with Tetralogy of Fallot

199 Pages·2012·3.87 MB·English

by  Massimo Chessa

The Right Ventricle in Adults
with Tetralogy of Fallot
Massimo Chessa • Alessandro Giamberti
Editors
The Right Ventricle
in Adults with
Tetralogy of Fallot
Foreword by Gary D. Webb
123
Massimo Chessa Alessandro Giamberti
IRCCS Policlinico San Donato IRCCS Policlinico San Donato
Pediatric and Adult Cardio-Thoracic Surgery
Congenital Heart Center San Donato Milanese (Mi)
San Donato Milanese (Mi) Italy
Italy
ISBN 978-88-470-2357-4 ISBN 978-88-470-2358-1(cid:11)(cid:72)(cid:37)(cid:82)(cid:82)(cid:78)(cid:12)
DOI 10.1007/978-88-470-2358-1
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Foreword
Do we need a textbook on the right ventricle in adults with tetralogy of Fallot?
Surely those of us who look after these patients are well-informed about all the
issues in their assessment and care! Yet, as it turns out, not to the extent we imag-
ined. In this volume Massimo Chessa and Alessandro Giamberti concisely and
effectively encourage us to think more deeply about these patients and how we
might best understand their problems such that we are able to offer them the best
possible chance of long-term good health.
In an excellent chapter on the anatomy of tetralogy of Fallot, the authors
describe the unique anatomical relationships, as inferred from cardiac specimens at
the University of Padua. This is most instructive and so are the sizable number of
excellent photographs used to support the text.
In a stimulating chapter on the genetics of tetralogy of Fallot, the authors focus
in on 22Q11 deletion syndrome. While noting that it is diagnosed in about 10% of
such patients, they point out that with the new molecular technique of comparative
genomic hybridization microchromosomal anomalies have been identified in 21%
of tetralogy of Fallot patients: NKX 2.5 mutations in up to 4% of nonsyndromic
tetralogy patients, CITED2 mutations in 6% of tetralogy patients, and JAG1 in
about 3%. They also note that tetralogy, when associated with trisomy 21, is char-
acterized by a large ventricular septal defect (VSD) and adequately sized pul-
monary arteries (PAs). By contrast, in patients with tetralogy and 22Q11 deletion
syndrome, the phenotype includes anomalies of the aortic arch, PAs, infundibular
septum, and pulmonary valve.
The next chapter is a fascinating one, focusing on stem cells and the right ven-
tricle. In their fascinating state-of-the-art review of this topic, the authors make the
case that both tetralogy and arrhythmogenic right ventricular cardiomyopathy can
be seen as diseases of stem cells.
In the chapter on the pathophysiology of tetralogy, the authors begin with a
stimulating review of the embryology of the right ventricle, highlighting the impor-
tance of the secondary heart field in this respect and in the normal embryogenesis
of the cardiac outflow tract. They also consider the differences in the timing of left
and right ventricular myocardium development, thus offering a basis for the differ-
v
vi Foreword
ential expression of developmental abnormalities. According to evidence reviewed
by the authors, the ability of the right ventricular myocardium to adapt to chronic
hypoxia is impaired in patients with tetralogy of Fallot. By contrast, the left ventri-
cle, through the hypoxia-induced-factor (HIF-1) pathway, has several mechanisms
to accommodate severe hypoxia. These principles provide a means of better under-
standing long-term right ventricular myocardial failure in patients with cyanotic
congenital heart disease.
In a very comprehensive chapter on the use of echocardiography in patients
with tetralogy, the results of 3-D echocardiography and cardiac magnetic resonance
are compared. While 3-D echo allows a better assessment of pulmonary valve mor-
phology, it underestimates right ventricular volumes and ejection fractions, espe-
cially with larger volumes.
There is a separate chapter on the timing of right ventricular outflow tract man-
agement in tetralogy patients with pulmonary regurgitation. The authors comment
on the absence of reliable studies to help clinicians determine when intervention for
significant pulmonary regurgitation will be most effective. They correctly observe
that it is not yet clear whether a full normalization of right ventricular volumes is
required to improve the long-term outcomes of these patients. Their comparison of
the American, Canadian, and European guidelines on this topic are accompanied by
the inclusion criteria for pulmonary valve replacement used at the German Heart
Center in Munich.
Not surprisingly, there is a chapter on the percutaneous pulmonary valve. The
authors point out that failing conduits are rarely circular and have complex shapes
and stenoses. Given these challenges, the Melody valve remains competent in dif-
ferent sizes and geometries. Its size limitation (22 mm) is overcome by the Edwards
Sapien valve, the major indication of which is the treatment of larger conduits (up
to 25 mm). According to the authors, the stent fracture rate can be substantially
reduced by implanting one or more stents within the conduit until it is “prepared”
for placement of the Melody valve.
A separate chapter focuses on the management of residual VSDs and branch
pulmonary artery stenosis in the catheterization laboratory. The latter condition has
been reported in as many as 17% of patients with tetralogy, especially involving the
left PA. Indications for intervention are thoughtfully presented. The authors indi-
cate a preference for stenting branch PA stenoses in adult patients, commenting that
they do not use self-expanding stents because of the inability to redilate them.
While making a good case for interventional catheter closure of residual VSDs, the
authors also acknowledge the potential value of a hybrid approach in which the
VSD is closed through a midline sternotomy, avoiding cardiopulmonary bypass by
introducing a device through the right ventricle.
In their chapter on surgical pulmonary valve implantation, the authors review
the various types of valves that can be used for this purpose. After an extensive sur-
vey of the literature, they provide a variety of reasons for their preferred approach
to pulmonary valve replacement, using stented bioprosthetic valves. The references
provided in relation to this discussion are well worth exploring.
Foreword vii
Surgical procedures performed in the course of redo procedures on tetralogy
patients are discussed in another chapter. In a series from Milan, 80% of patients
who underwent pulmonary valve replacement had additional procedures, the most
frequent of which were right ventricular remodeling, tricuspid valve repair, and
arrhythmia surgery. In the authors’ opinion, this experience supports the contention
that surgery on these patients had probably been left until too late. While ascend-
ing aortic dilation is common in tetralogy patients, the risk of aortic dissection or
even progressive dilation is low.
The book concludes with chapters on late arrhythmias and on the perioperative
management of the right ventricle.
Overall, this excellent source of information and discussion will stimulate car-
diologists and surgeons interested in the adult tetralogy patient to think beyond the
frequently narrow limits of our assumptions and to begin to appreciate in a more
complex and scientific manner the challenges these patients present.
It is my pleasure and privilege to warmly recommend this text to you, my col-
leagues.
March 2012 Gary D. Webb, M.D.
Cincinnati Children’s Hospital Heart Institute
Contents
1 Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1
Massimo Chessa and Alessandro Giamberti
2 Anatomy of Tetralogy of Fallot . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3
Carla Frescura and Gaetano Thiene
3 Genetics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 27
M. Cristina Digilio, Bruno Dallapiccola and Bruno Marino
4 Stem Cells and the Right Ventricle . . . . . . . . . . . . . . . . . . . . . . . . . . . . 39
Luigi Anastasia and Marco Piccoli
5 Pathophysiology(cid:2)in Tetralogy of Fallot . . . . . . . . . . . . . . . . . . . . . . . . . 47
Gabriele Egidy Assenza and Michael J. Landzberg
6 Tetralogy of Fallot: Late Outcome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 61
Jochen Weil
7 Tetralogy of Fallot: The Failing Right Ventricle . . . . . . . . . . . . . . . . . 75
Folkert J. Meijboom and Barbara Mulder
8 Imaging Evaluation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 91
Claudio Bussadori
9 Timing(cid:2)forRVOTManagement . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 113
Harald Kaemmerer, Andreas Eicken and John Hess
10 Percutaneous Pulmonary Valve . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 125
Mark S. Turner, Mario Carminati and Philipp Bonhoeffer
ix
x Contents
11 Other Transcatheter Procedures . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 133
Massimo Chessa and Gianfranco Butera
12 Surgical Pulmonary Valve Implantation . . . . . . . . . . . . . . . . . . . . . . . . 145
Alessandro Giamberti, Giuseppe Pomè and Alessandro Frigiola
13 Other Surgical Procedures . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 155
Alessandro Giamberti
14 Late Arrhythmias: Current Approaches . . . . . . . . . . . . . . . . . . . . . . . 167
Sara Foresti, Maria Cristina Tavera, Pierpaolo Lupo
and Riccardo Cappato
15 Perioperative Right VentricularManagement . . . . . . . . . . . . . . . . . . . 179
Marco Ranucci
Contributors
Luigi AnastasiaDepartment of Medical Chemistry, Biochemistry and
Biotechnology, University of Milan, Italy;IRCCS Policlinico San Donato,
San Donato Milanese (Mi), Italy
Philipp Bonhoeffer Fondazione Toscana Gabriele Monasterio, CNR, Pisa, Italy
Claudio Bussadori IRCCS Policlinico San Donato, Pediatric and Adult
Congenital Heart Center, San Donato Milanese (Mi), Italy
Gianfranco Butera IRCCS Policlinico San Donato, Pediatric and Adult
Congenital Heart Center, San Donato Milanese (Mi), Italy
Riccardo CappatoIRCCS Policlinico San Donato, Arrhythmia and
Electrophysiology Center, San Donato Milanese (Mi), Italy
Mario Carminati IRCCS Policlinico San Donato, Pediatric and Adult
Congenital Heart Center, San Donato Milanese (Mi), Italy
Massimo ChessaIRCCS Policlinico San Donato, Pediatric and Adult Congenital
Heart Center, San Donato Milanese (Mi), Italy
Bruno Dallapiccola Medical Genetics, Bambino Gesù Pediatric Hospital,
IRCCS, Rome, Italy
M. Cristina Digilio Medical Genetics, Bambino Gesù Pediatric Hospital,
IRCCS, Rome, Italy
Gabriele Egidy AssenzaBoston Adult Congenital Heart and Pulmonary
Hypertension Program, Children’s Hospital Boston, Brigham and Women’s
Hospital, Harvard Medical School, Boston, MA, USA; Department of Clinical
and Molecular Medicine, Sant’Andrea Hospital, Sapienza University,
Rome, Italy
xi