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(Download PDF) Fetal Cardiology Embryology Genetics Physiology Echocardiographic Evaluation Diagnosis and Perinatal Management of Cardiac Diseases Third Edition Gembruch Online Ebook All Chapter PDF
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Fetal Cardiology
SERIES IN MATERNAL-FETAL MEDICINE
About the Series
Published in association with the Journal of Maternal Fetal and Neonatal Medicine, the series in Maternal Fetal Medicine
keeps readers up to date with the latest clinical therapies to improve the health of pregnant patients and ensure a successful
birth. Each volume in the series is prepared separately and typically focuses on a topical theme. Volumes are published on an
occasional basis, depending on the emergence of new developments.
Fetal Cardiology: Embryology, Genetics, Physiology, Echocardiographic Evaluation, Diagnosis and Perinatal Management
of Cardiac Diseases
Simcha Yagel, Norman H. Silverman, Ulrich Gembruch
Maternal-Fetal and Obstetric Evidence Based Guidelines, Two Volume Set, Third Edition
Vincenzo Berghella
The Long-Term Impact of Medical Complications in Pregnancy: A Window into Maternal and Fetal Future Health
Eyal Sheiner
Edited by
Simcha Yagel
Magda and Richard Hoffman Center for Human Placenta Research
Division of Obstetrics and Gynecology
Hadassah-Hebrew University Medical Center
Jerusalem, Israel
Norman H. Silverman
Division of Pediatric Cardiology
Lucile Packard Children’s Hospital
Stanford University Medical Center
Palo Alto, California, USA
Ulrich Gembruch
Department of Obstetrics and Prenatal Medicine
University Bonn Medical School
Bonn, Germany
Associate Editor
Sarah Margalyt Cohen
Department of Obstetrics and Gynecology
Hadassah-Hebrew University Medical Center
Mount Scopus
Jerusalem, Israel
CRC Press
Taylor & Francis Group
6000 Broken Sound Parkway NW, Suite 300
Boca Raton, FL 33487-2742
This book contains information obtained from authentic and highly regarded sources. While all reasonable efforts have been made to publish reliable
data and information, neither the author[s] nor the publisher can accept any legal responsibility or liability for any errors or omissions that may be
made. The publishers wish to make clear that any views or opinions expressed in this book by individual editors, authors or contributors are personal
to them and do not necessarily reflect the views/opinions of the publishers. The information or guidance contained in this book is intended for use
by medical, scientific or health-care professionals and is provided strictly as a supplement to the medical or other professional’s own judgement, their
knowledge of the patient’s medical history, relevant manufacturer’s instructions and the appropriate best practice guidelines. Because of the rapid
advances in medical science, any information or advice on dosages, procedures or diagnoses should be independently verified. The reader is strongly
urged to consult the relevant national drug formulary and the drug companies’ and device or material manufacturers’ printed instructions, and
their websites, before administering or utilizing any of the drugs, devices or materials mentioned in this book. This book does not indicate whether
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without intent to infringe.
Names: Yagel, Simcha, editor. | Silverman, Norman H., editor. | Gembruch, Ulrich, editor.
Title: Fetal cardiology : embryology, genetics, physiology, echocardiographic evaluation, diagnosis, and perinatal management of
cardiac diseases / edited by Simcha Yagel, Norman H. Silverman and Ulrich Gembruch.
Other titles: Series in maternal-fetal medicine.
Description: Third edition. | Boca Raton, FL : Taylor & Francis Group, LLC, 2019. | Series: Series in maternal-fetal medicine | Includes
bibliographical references and index.
Identifiers: LCCN 2018012336| ISBN 9781498771764 (pack- hardback and ebook : alk. paper) | ISBN 9780429461118 (ebook)
Subjects: | MESH: Heart Diseases--diagnosis | Heart Diseases--therapy | Fetal Heart--physiopathology | Infant, Newborn |
Prenatal Diagnosis
Classification: LCC RG618 | NLM WS 290 | DDC 618.3/261--dc23
LC record available at https://lccn.loc.gov/2018012336
Preface xi
List of contributors xiii
1 Cardiac morphogenesis 1
Adriana C. Gittenberger-de Groot, Monique R.M. Jongbloed, Marco C. de Ruiter, Margot M. Bartelings,
and Robert E. Poelmann
2 Cardiac anatomy and examination of specimens 18
Diane E. Spicer
3 Placental implantation and development 36
Simcha Yagel and Debra S. Goldman-Wohl
4 Placental circulations 49
Eric Jauniaux and Graham J. Burton
5 Technical advances in fetal echocardiography 63
Boris Tutschek and David Sahn
6 Epidemiology of congenital heart disease: Etiology, pathogenesis, and incidence 78
Julien I.E. Hoffman
7 Indications for fetal echocardiography: Screening in low- and high-risk populations 86
Anita J. Moon-Grady, Mary T. Donofrio, Sarah M. Cohen, and Simcha Yagel
8 Circulation in the normal fetus and cardiovascular adaptations to birth 101
Abraham M. Rudolph
9 Development of fetal cardiac and extracardiac Doppler flows in early gestation 120
Viola Seravalli, Ulrich Gembruch, and Ahmet A. Baschat
10 Examination of the normal fetal heart using two-dimensional echocardiography 137
Rabih Chaoui
11 The three vessel and tracheal view 148
Julia Solomon
12 First and early second trimester fetal heart screening 159
Simcha Yagel, Sarah M. Cohen, Reuven Achiron, Yaron Zalel, and Alfred Abuhamad
13 Four-dimensional ultrasound examination of the fetal heart using spatiotemporal image correlation (STIC) 174
Luís F. Gonçalves
14 Three- and four-dimensional ultrasound in fetal echocardiography: A new look at the fetal heart 195
Simcha Yagel, Sarah M. Cohen, Israel Shapiro, Baruch Messing, and Dan V. Valsky
15 Magnetic resonance imaging: Techniques and normal fetal cardiovascular physiology 217
Davide Marini, Sharon Portnoy, and Mike Seed
16 Magnetic resonance imaging: Abnormalities of the fetal circulation 231
Davide Marini, Sharon Portnoy, and Mike Seed
17 Abnormal visceral and atrial situs and congenital heart disease 239
Varsha Thakur, Edgar T. Jaeggi, and Shi-Joon Yoo
18 Cardiac malpositions and syndromes with right or left atrial isomerism 253
Rabih Chaoui
viii Contents
This third edition of Fetal Cardiology: Embryology, Genetics, disease. Progress in prenatal genetic investigations and coun-
Physiology, Echocardiographic Evaluation, Diagnosis, and seling is canvassed in a new chapter on chromosome micro-
Perinatal Management of Cardiac Diseases marks a new array analysis, exome, and whole genome sequencing of the
beginning in our specialty. Like the first two editions, this fetal heart. Two chapters are devoted to the complex issue of
edition was created through the generosity of the many pro- the intrauterine and postnatal neurodevelopment of fetuses
fessionals who shared their expertise: obstetricians, pedi- diagnosed with congenital heart disease and the management
atric cardiologists, sonographers, molecular biologists, and strategies available to them. An expanded chapter describes
medical physicists. This latest edition adds a complement of the evaluation of fetal cardiac function with advanced
twelve new chapters, reflecting the immense strides made in Doppler techniques, while another focuses on fetal brady-
recent years. We are delighted to welcome many new con- dysrhythmia and the long Q-T syndrome, prior knowledge
tributors, leaders in their specialties writing on diverse top- of which may save lives, not only of the fetus or newborn, but
ics, to our team. may lead to diagnosis and effective preventative treatment for
The fields of fetal imaging and cardiac therapies and inter- affected but asymptomatic family members as well.
ventions are rapidly changing and developing. Whereas in Congenital heart disease is a broad classification, estimated
the preface to the second edition we showcased the three- to affect 8:1,000 live births and to occur at a similar rate in
dimensional/four-dimensional revolution in fetal cardiology, aborti. This underlines the necessity to integrate compre-
the highlight of the third edition is a pair of chapters focusing hensive fetal echocardiography in every targeted organ scan.
on fetal cardiac magnetic resonance imaging. This exciting Fetal Cardiology, third edition, is a comprehensive guide
and innovative discipline promises to enhance fetal diagno- intended for everyone interested in fetal development: any-
sis, inform perinatal management and postnatal treatment, one having an interest in the fetal heart, we believe, will find it
and open new avenues in research. useful. It is our hope that this volume will bridge the special-
This new edition comprises expanded and revised chapters ties of obstetrics, perinatology, pediatric and general cardiol-
on treatment options and pharmacological or surgical inter- ogy, and radiology.
ventions available to affected fetuses, as well as all life stages
of heart disease, from embryology to the neonate, to the Simcha Yagel
reproductive health of women with congenital heart disease Norman H. Silverman
and the counseling of families affected by congenital heart Ulrich Gembruch
List of contributors
Michael Y. Liu
Lucile Houyel
Fetal Heart Program
Centre Marie Lannelongue
The Cardiac Center
Le Plessis-Robinson, France
Children’s Hospital of Philadelphia
and
Hedwig H. Hövels-Gürich Department of Pediatrics
Department of Pediatric Cardiology Perelman School of Medicine
Children’s Heart Center University of Pennsylvania
RWTH Aachen University Philadelphia, Pennsylvania
Aachen, Germany
Alexander Lowenthal
James C. Huhta Pediatric Cardiologist
Perinatal Cardiologist Heart Institute
MEDNAX Services, Inc. Schneider Children’s Medical Center of Israel
Tampa, Florida Petach-Tikvah, Israel
Cardiac morphogenesis 9
RA
RA
OP
LA
LA
CS
AVC TO MO
CS
CCV LA
GCV
CS
LV ICV
ICV
RV
Figure 1.7
(a,b) Dorsal aspect of the atria during two stages of formation of the primary (PS) and secondary (SS) interatrial septum. The entrance of
the sinus venosus is always in the right atrium (RA) including the coronary sinus (CS). The pulmonary vein (PV) becomes incorporated in
the dorsal wall of the left atrium (LA). The second heart field-derived dorsal mesenchymal protrusion (DMP) is central to atrial septation.
The mesenchymal cap (MC) of the PS fuses with both AV cushions closing the ostium primum (OP). (AVC, atrioventricular canal; LA, left
atrium; MO, mitral orifice; OS, ostium secundum; SHF, second heart field; RCV, right cardinal vein; TO, tricuspid orifice.) (c,d) Dorsal aspects
showing the venous contributions to the atria. (CCV, common cardiac vein; GCV, great cardiac vein; ICV, inferior cardinal vein; OVM, ligament
of Marshall; SCV, superior cardinal vein.) ([a,b] Modified after Gittenberger de Groot AC et al. In: Moller JH, Hoffmann JIE, eds. Pediatric
Cardiovascular Medicine, 2nd edn. Wiley-Blackwell; Hoboken, New Jersey, 2012:1–22.19)
PuV SB
FS
PuV
MB
SB
MB
FS TS
TV
IS
TV TS
IS
Figure 1.8
(a) Opened right ventricle, showing the anterior and lateral walls and the interventricular septum. (FS, folding septum; IS, inlet septum;
MB, moderator band; PuV, pulmonary valve; SB, septal band; TS, trabecular septum; TV, tricuspid valve and orifice.) The arrow in (b) points
toward a ventricular septal defect. (Modified after Gittenberger-de Groot AC et al. Ann Med 2014;46:640–52; Gittenberger de Groot AC et al.
In: Moller JH, Hoffmann JIE, eds. Pediatric Cardiovascular Medicine, 2nd edn. Wiley-Blackwell; Hoboken, New Jersey, 2012:1–22.14,19)
posteriorly located inlet septum and the anteriorly located of gene pathways are involved in development of VSDs.14
trabecular or folding septum complemented by the outflow Most VSDs are located in the outflow tract region, and devia-
tract septum for final division of the right and left sides of the tion of septum components often results in malalignment.
heart. By rightward movement of the initially slit-like right- Defects resulting from abnormal fusion or development
sided part of the AV canal (future tricuspid orifice), the pos- of the inlet septum and the anterior folding septum can be
terior wall of the right ventricle expands, forming the inlet found on their merging borderline that is at the position of
portion of the right ventricle allowing the right atrium to the septal band (Figure 1.8a,b). The central muscular VSD is
connect to the right ventricle.68,69 The anteriorly located tra- an example. Also the myocardial structure can be deficient as
becular or folding septum forms because of the combination seen in some EPDC-deficient embryos with a spongy septum.
of ballooning of the ventricular chambers and the concomi- This can result in multiple muscular VSDs.
tant infolding of the left and right ventricular walls with the Myocardial differentiation takes place from an initial two-
epicardium sandwiched in between.4 The formation of the layered structure, not yet covered by epicardium, to a multi-
anterior folding septum starts in the inner curvature, which layered sheet that consists of an inner trabecular layer and an
is rich in subepicardial tissue and continues in an apical outer compact layer.70 Development of the myocardial wall
direction where it becomes more trabecular and spongiose. knows many interactive players and inductive signals. The
The inlet septum, including the septal band and the modera- work in zebrafish in which part of the ventricles was removed
tor band, merges with the anterior folding septum to form the and regenerated afterward is revealing as to the role of endo-
major part of the interventricular septum. The superior and cardium and epicardium in this process.71 Recent work72
inferior AV cushions that line the upper rim of the inlet sep- shows how dissociation of the inner myocardial layer favors
tum fuse with the atrial mesenchymal cap covering the lower trabecular formation being also effective in endocardial cush-
part of the primary atrium septum to separate the left mitral ion delamination, which is essential for AV valve formation.
and right tricuspid orifice (Figure 1.7a,b).
Lord Byron used to boast that he could bring forward a dozen young
men of fashion who could beat all the regular authors at their several
weapons of wit or argument; and though I demur to the truth of the
assertion, yet there is no saying till the thing is tried. Young
gentlemen make very pretty sparrers, but are not the ‘ugliest
customers’ when they take off the gloves. Lord Byron himself was in
his capacity of author an out-and-outer; but then it was at the
expense of other things, for he could not talk except in short
sentences and sarcastic allusions, he had no ready resources; all his
ideas moulded themselves into stanzas, and all his ardour was
carried off in rhyme. The channel of his pen was worn deep by habit
and power; the current of his thoughts flowed strong in it, and
nothing remained to supply the neighbouring flats and shallows of
miscellaneous conversation, but a few sprinklings of wit or gushes of
spleen. An intense purpose concentrated and gave a determined
direction to his energies, that ‘held on their way, unslacked of
motion.’ The track of his genius was like a volcanic eruption, a
torrent of burning lava, full of heat and splendour and headlong fury,
that left all dry, cold, hard, and barren behind it! To say nothing of a
host of female authors, a bright galaxy above our heads, there is no
young lady of fashion in the present day, scarce a boarding-school
girl, that is not mistress of as many branches of knowledge as would
set up half-a-dozen literary hacks. In lieu of the sampler and the
plain-stitch of our grandmothers, they have so many hours for
French, so many for Italian, so many for English grammar and
composition, so many for geography and the use of the globes, so
many for history, so many for botany, so many for painting, music,
dancing, riding, &c. One almost wonders how so many studies are
crammed into the twenty-four hours; or how such fair and delicate
creatures can master them without spoiling the smoothness of their
brows, the sweetness of their tempers, or the graceful simplicity of
their manners. A girl learns French (not only to read, but to speak it)
in a few months, while a boy is as many years in learning to construe
Latin. Why so? Chiefly because the one is treated as a bagatelle or
agreeable relaxation; the other as a serious task or necessary evil.
Education, a very few years back, was looked upon as a hardship, and
enforced by menaces and blows, instead of being carried on (as now)
as an amusement and under the garb of pleasure, and with the
allurements of self-love. It is found that the products of the mind
flourish better and shoot up more quickly in the sunshine of good-
humour and in the air of freedom, than under the frowns of
sullenness, or the shackles of authority. ‘The labour we delight in
physics pain.’ The idlest people are not those who have most leisure-
time to dispose of as they choose: take away the feeling of
compulsion, and you supply a motive for application, by converting a
toil into a pleasure. This makes nearly all the difference between the
hardest drudgery and the most delightful exercise—not the degree of
exertion, but the motive and the accompanying sensation. Learning
does not gain proselytes by the austerity or awfulness of its looks. By
representing things as so difficult, and as exacting such dreadful
sacrifices, and to be acquired under such severe penalties, we not
only deter the student from the attempt, but lay a dead-weight upon
the imagination, and destroy that cheerfulness and alacrity of spirit
which is the spring of thought and action. But to return.—An author
by profession reads a few works that he intends to criticise and cut
up ‘for a consideration,’—a bluestocking by profession reads all that
comes out to pass the time or satisfy her curiosity. The author has
something to say about Fielding, Richardson, or even the Scotch
novels: but he is soon distanced by the fair critic or overwhelmed
with the contents of whole Circulating Libraries poured out upon his
head without stint or intermission. He reads for an object and to live;
she for the sake of reading or to talk. Be this as it may, the idle reader
at present reads twenty times as many books as the learned one. The
former skims the surface of knowledge, and carries away the striking
points and a variety of amusing details, while the latter reserves
himself for great occasions, or perhaps does nothing under the
pretence of having so much to do.
‘From every work he challenges essoine,
For contemplation’s sake.’