Perloff’s Clinical Recognition of Congenital Heart Disease: Expert Consult - Online and Print, 6e

565 Pages·2012·129.42 MB·English

by  Joseph K. Perloff MD

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CLINICALRECOGNITIONOFCONGENITALHEARTDISEASE ISBN:978-1-4377-1618-4
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In memory of my parents,
Rose and Richard,
and with high hopes for
Alexandra, Benjamin, and Nicholas
Joseph K. Perloff
To students past and future,
whose privilege it has been and will be
to learn from Joseph K. Perloff
Ariane J. Marelli
PERLOFF’S
Clinical Recognition of
Congenital Heart Disease
PERLOFF’S
Clinical Recognition
of Congenital
Heart Disease
Sixth Edition
Joseph K. Perloff, MD
Emeritus
Streisand American Heart Association
Professor of Medicine and Pediatrics
Ahmanson/UCLA Adult Congenital Heart Disease Center
University of California–Los Angeles School of Medicine
Los Angeles, California
Ariane J. Marelli, MD, FRCP(C), MPH
Associate Professor of Medicine
Director, McGill Adult Unit for Congenital Heart Disease
McGill University
Montreal, Quebec
Canada
Preface
TheobjectivesetforthinthefirstfiveeditionsofClinicalRecognitionofCongenital
Heart Disease remains the same: to stimulate clinicians to use the basic diagnostic
toolsattheirdisposal,thehistory,physicalexamination,electrocardiogram,andchest
x-ray. When the second edition was published, two-dimensional echocardiography
was in its infancy, but it is now virtually routine. Cardiac catheterization and angi-
ography were major steps forward, followed by transthoracic and transesophageal
echocardiography. Magnetic resonance imaging and computed tomography provide
exquisiteanatomic detail and refinedphysiologic information.
Inlightoftheseadvances,andwithmoreintheoffing,emphasisonbasicdiagnostic
toolsismorerelevantthanever.Intelligentselectionfromtheincreasingarrayofcur-
rently available procedures requires far more sophisticated judgment than when the
choiceswerelimited.Thebasictoolsprovidethebasisforthisjudgment.Thebedside
diagnosisofcongenitalheartdiseaseisaclinicalsyllogism,anexcitingdisciplineinlog-
ical thinking, and a gratifying source of self-education.
Joseph K.Perloff
LosAngeles, California
Ariane J. Marelli
Montreal, Quebec,Canada
Acknowledgments
The Ahmanson Foundation generously supported the preparation of this edition.
Natasha Andjelkovic, our editor at Elsevier, was exemplary. A collaboration of
pediatric cardiology colleagues at UCLA and McGill fostered an atmosphere of
interchange that made congenital heart disease a continuum from the fetus to the
extended ages that survival now permits.
The scholarly integrity and academic achievements of Marjorie Gabrielle Perloff,
PhD, Professor Emerita,Stanford University, determined my standards.
Joseph K.Perloff
LosAngeles, California
It is a privilege to have stood on the shoulders of giants at UCLA, including Joseph
Perloff, John Child, Pamela Miner, Hillel Laks, and Roberta Williams. The legacy
of knowledge, compassion, and vision drives me to this day. I am grateful to have
theopportunity to participate in the lifeof this singular book.
IthankDr.LucJutras,forhiscreativityasexemplifiedbythemagneticresonance
imagingoftheHolmesheartincludedinthisedition.Thenumerousfellowswehave
thepleasureofworkingwithstimulateourimaginations.Amongthese,Dr.BorisLowe
ofNewZealandandDr.NorikoKitamuraofJapanparticipatedinthepreparationof
theimagesincludedin this edition.
Theintellectualcuriosity,substance,andstabilitythatmyhusband,JulianFalutz,
andourchildren,JacobandRebecca,havegiventoeachofourendeavorsenablemein
my efforts daily.Forthis, I can never be thankful enough.
Ariane J. Marelli
Montreal, Quebec,Canada
C h a p t e r 1
Introduction: Formulation
of the Problem
“The heart is theyoungest, most diverse, mostfluid, dysplasia. Still other abnormalities, such as Marfan syn-
most changeable, most versatile partof creation.” drome,whichistheresultofmutationsinthegenethat
Goethe1 encodesfibrillin-1,areactuallyorpotentiallyoffunctional
significance but are not necessarily manifest at birth as
Congenitalheartdisease(con,together;genitus,born)is gross structural malformations and, as a matter of con-
oftenviewedasagroupofgrossstructuralabnormalities vention, are usually not classified as congenital.14 And a
thatarepresentatbirth.Althoughnotincorrect,thisdef- handful of odd defects tend to escape inclusion, such as
inition requireselaboration and qualification. congenitalkinkingoftheinternalcarotidartery.15
Prenatal diagnoses have been possible for more than Because of the intimate interplay between congenital
25years.2Ataboutembryonicday20inthehumanfetus, malformations of the heart and the fetal substrate, we
progenitor cells within the mesoderm become commit- now turn to the fetal circulation per se and the remark-
ted to a cardiogenic destination.3 Most malformations able circulatory changes that occur at birth.4,16 In utero
compatiblewith6monthsofintrauterinelifepermitlive patterns of blood flow have been defined in fetal lambs
offspringatterm.Agivenmalformationmayexistinrel- afterinsertionofcathetersintolimbvessels,4andinutero
ativeharmonywiththefetalcirculation,onlytobemod- left and right ventricular outputs and flow distributions
ified considerably, at least physiologically, by dramatic throughtheforamenovale,ductusarteriosus,andpulmo-
circulatory changes at birth.4 Weeks, months, or years narybedhavebeenmeasuredinhumanfetuseswithhigh-
maythenelapsebeforeananomalyrevealsitselfaschar- resolution color Doppler ultrasound scan.16,17 The right
acteristic or typical. A functionally normal aortic valve and left ventricles do not function in series in the fetus
that is congenitally bicuspid at birth may take decades asthey doin the extrauterine circulation. Gas exchange
to fibrose, calcify, and present as overt aortic stenosis. occursintheplacenta,notinthelungs.Abouttwothirds
Conversely,amalformationmaydisappear,asisthecase oftherightventricularoutputisdivertedawayfromthe
with spontaneous closureof aventricular septaldefect. lungs through a widely patentductus arteriosusintothe
Congenitalmalformationsoftheheartandcirculation descending thoracic aorta, from which a large portion
are not fixed anatomic defects that appear at birth but enters the umbilical circulation for oxygenation in the
instead are anomalies in flux that originate in the early placenta. Pulmonary blood flow is low but meets nutri-
embryo, evolve during gestation, survive the dramatic tionalrequirementsforgrowthofthelungs.Inferiorvena
circulatory alterations at birth, and change considerably cavablood,whichisacompositefromtheumbilicalvein,
during the course of extrauterine life. Congenital heart theleft andright hepatic veins,theductusvenosus, and
disease was once the exclusive and legitimate domain the distal inferior vena cava, streams in the direction of
of pediatrics, but survival patterns have changed appre- the foramen ovale into the left atrium and then into
ciably.5,6 In the United States today, there are more theleftventricle,assistedbytheeustachianvalve.About
adultswithcongenitalheartdiseasethanthereareinfants 60%oftheumbilicalvenousreturnthatisoxygenatedin
and children; these new generations of patients are best theplacentabypassestheliverthroughtheductusveno-
caredforbyspeciallytrainedcardiologists.7Clinicalpre- sus and enters the inferior vena cava and right atrium.
sentations, especially in adults,8,9 can be exceptionally Blood from the superior vena cava is deflected within
complex.10–12 therightatriumtowardthetricuspidvalve,acrosswhich
Furthermore,certaindefectsthatareactuallyorpoten- itreachestherightventricle.About70%oftherelatively
tiallyoffunctionalsignificancearenotgrossstructurally, oxygen-rich blood ejected from the left ventricle is
such as congenital complete heart block, either isolated distributedtothecoronarycirculation(andthusthemyo-
(seeChapter4)orwithcongenitallycorrectedtransposi- cardium),totheheadandneck(andthusthebrain),andto
tionofthegreatarteries(seeChapter6)orleftisomerism theforelimbs.Almost90%oftherelativelyoxygen-poor
(see Chapter 3); Wolff-Parkinson-White preexcitation, blood ejected by the right ventricle passes through the
eitherisolatedorcomplicated(seeChapter13);absence ductusarteriosusintothedescendingaortatobeoxygen-
ofasinusnode,aswithasuperiorvenacavalsinusvenosus atedintheplacenta.Accordingly,thefetalcirculationis
atrial septal defect (see Chapter 15) or left isomerism designedsothatbloodwithhigheroxygensaturationpref-
(see Chapter 3); ventricular tachycardia with the long erentiallyreachesthemyocardiumandbrainandlesssat-
QT syndromes13; or arrhythmogenic right ventricular uratedbloodpreferentiallyreachestheplacenta.
1
2
Chapter 1 Introduction:FormulationoftheProblem
The profound circulatory changes at birth occur methodofassessmentusedintheprocessofclinicalrec-
almost simultaneously. The umbilical/placental circula- ognitionisasyllogismofappliedlogic.Whenconclusions
tioniseliminated,thelungsexpand,rhythmicventilation are drawn from accurate observations,correct diagnoses
commences,oxygentensionrisesasalveolarfluidiselim- emergewithgratifyingfrequency,evenwhenthemalfor-
inated and ambient air is breathed, pulmonary vascular mationsarecomplex.Logicisencouraged;memorization
resistancefalls,andpulmonarybloodflowincreaseseight is minimized. In each chapter, the gross morphology
to10fold.Venousreturntotheleftatriumincreases,left is first established to shed light on the physiologic de-
atrialpressurerises,thevalveoftheforamenovalecloses, rangements. The question is then asked: What clinical
andtheductusarteriosusfunctionallycloses(constricts) manifestations might result from these anatomic and
within hours after birth, effectively separating the pul- physiologicderangements?Thestageisnowsetforclin-
monary and systemic circulations.4 icalrecognition—thethesisofthisbook—whichdepends
A number of important delayed events complete the onasynthesisofinformationfromthehistory,thephysical
transitionfromthefetaltothematuringcirculationafter examination,theelectrocardiogram,andthechestx-ray.
birth.Duringthecourseofgestation,pulmonaryvascular Contemporary imaging techniques serve as important
resistance falls progressively as new resistance arterioles supplements.
develop. Regulation of the perinatal pulmonary circula- The history, which is an interview, is designed to
tionreflectsacomplexinterplaybetweenvasoconstrictor secure background information. The physical examina-
and vasodilator factors, but the net effect is a dramatic tion includes physical appearance, arterial pulse, jugular
increase in pulmonary blood flow initiated by expansion venous pulse,precordial percussion, movement and pal-
ofthelungsandrhythmicventilationthatreflectsashift pation,andauscultation.18Thestethoscopeistheoldest
from active pulmonary vasoconstriction in the fetus to cardiovasculardiagnosticinstrumentincontinuousclini-
active vasodilation in the neonate.4 Failure of this shift cal use. The electrocardiogram, developed in 1903 by
to occur results in persistent fetal circulation of the Willem Einthoven, when read closely and interpreted
newborn. Thick-walled fetal pulmonary arterioles are inclinicalcontext,providesgratifyingdiagnosticinsights,
designedtomeetthefullforceofsystemicrightventric- even in complex congenital heart disease.19 Meticulous
ularpressuretheinstantthelungsexpand.Asrespiration attentionshouldbedevotedtothePwave,thePduration,
commences, a marked increase in alveolar and systemic thePRinterval,theQRS,theQTinterval,andtheTwave.
arterialoxygentensionoccurs,towhichpulmonaryarte- Theelectrocardiographicwavesarethoughttohavebeen
riolesare exquisitelysensitive,settingthestagefordila- so-named by Rene Descartes, an 18th century French
tionandinvolution. Largepulmonaryarteriesalso playa philosopher and scientist20 who was surely known to
role,althoughmuchlesser,indeterminationofthetotal Einthoven.Thex-raywasdevelopedin1895byWilhelm
drop in pressure across thelungs. KonradRoentgen.Chestx-raysmustbereadcloselyand
Maturational changes have an impact on the neonatal interpretedinclinicalcontext.Posteroanteriorandlateral
disparityinsizebetweenthemainandbranchpulmonary views should be read according to a planned sequence:
arteries and on the angulation at the origins of the right namely, penetration, rotation, degree of inhalation, age
and left pulmonary arterial branches (see Chapter 11). and sex, right/left orientation, thoracic and abdominal
Both of these factors are responsible for a physiologic situs, positions and malpositions above and below the
dropinpressuredistaltothepulmonarytrunk.Another diaphragm,thebones,extrapulmonarysofttissuedensi-
important change relates to the fetal right ventricle, ties,vascularandparenchymalintrapulmonarysofttissue
which slowly loses its relative mass. With the stimulus densities,thegreatarteriesandgreatveins,theatria,and
of afterload eliminated, a gradual reduction is seen in theventricles.Muchcanbesaidforlearninginterpretation
rightventricularwallthicknessrelativetotheventricular by reading chest x-rays with a trained chest radiologist.
septum and left ventricle. The neonatal right ventricle As with the electrocardiogram, so too with the chest
doesnotundergoregressionbutinsteaddoesnotincrease x-ray—theamount ofinformationthatcanbeextracted
its mass as rapidly as the left ventricle. Normal physio- isgratifying,evenincomplexcongenitalheartdisease.
logic adaptations at birth are remarkable in their own Itisaxiomaticthatemphasisshouldbeplacedonthe
right. Therefore, that congenital malformations of the relationshipofthepartstothewhole,arelationshipthat
heartorcirculationwill,tovaryingdegrees,interactwith results in a harmonious picture devoid of contradictions
and be modified byextrauterine life isnot surprising. rather than a collection of loosely related observations.
“Oneofthemostwondrousfeaturesofanimatenature Maximum information should be extracted from each
must surely be the perfect harmony existing between source while information from one source is related to
structure and function.”17 No organ system exemplifies that of another. Each step should advance our thinking
this harmony as well as the heart and circulation. In the and narrow the diagnostic possibilities. By the end of
presence of congenital heart disease, both the morphol- the clinical assessment, untenable considerations should
ogyandthephysiologyoftheheartandcirculationchange have been discarded, possibilities retained for further
withthepassageoftimefromthefetustotheneonateto consideration, and probabilities brought into sharper
the infant, to the child, to the adolescent, and to the focus. The process reflects Herophilus’ adage that the
adult. Some of these changes result in neonatal death, bestphysicianisonewhodistinguishesbetweenthepos-
and others express themselves gradually over weeks, sible and theimpossible.
months, years, or even decades. The clinical manifesta- A diagnostic impression, once entertained, unneces-
tions of congenital heart disease are dealt with herein sarily influences the objectivity with which subsequent
in terms of anatomic and physiologic mechanisms. The impressions are appraised. If the same sequence of
3
Chapter 1 Introduction:FormulationoftheProblem
clinical evaluation isalwaysused,thelatterstepscannot provides theinformationnecessaryfor mostofthesedeci-
beobjectivelyassessed.Varyingthesequencewithwhich sions. With increasing emphasis on the cost of medical
information is assembled is therefore useful. Begin, for care, a resurgence of interest in the inexpensive and safe
example,withthechestx-rayorelectrocardiogram.With clinical examinationis likely.25
infants,thepracticalapproachoftenistotakeadvantage
oftemporaryperiodsofcalmandstartwiththephysical
examination,whichmayshortly bedifficulttoperform.
SOME ADDITIONAL POINTS
It is not the sequence that matters, but the depth and
synthesis of analysis. Irrespective of how the order of
information is arranged, two questions must always be The term natural history is not used. Julien Hoffman’s
asked: How does one step relate to the next? How do definitionisrelevant:“Thenaturalhistoryofanydisease
thepartsrelatetothe whole? isa description of what happens to people with the dis-
Diagnosticthinkingbenefitsfromtheuseofanticipa- easewhodonotreceivetreatmentforit.”26Naturalhis-
tion and supposition. After conclusions are drawn from tory is therefore not synonymous with unoperated, and
thehistory,itisusefultopauseandask:Iftheseassump- unnaturalhistoryisnotsynonymouswithpostoperative.
tionsarecorrect,whatcanIanticipatefromthephysical Nonsurgicaltherapeuticinterventionscanhardlybecon-
examination? Or what specific points can I anticipate in siderednatural.Asecondpoint:differentialdiagnosesare
the electrocardiogram or x-ray to support or refute my notused.Instead,eachchapterendswithasummarythat
initial impressions? Anticipation heightens interest as permits clinical recognition of the congenital anomaly
the clinical assessment progresses. Confirmation comes coveredinthechapter. Thesesummariesbringtogether
as a source of satisfaction, and error stands out in bold clinicalhighlightsandserveasremindersforthereader’s
relief.Norshouldwebeafraidofmistakes.Truthemerges convenience.
sooner from error thanfromconfusion. Finally,acommentonterminologyisneeded.TheFirst
Decadesago,PaulWoodproposedthatweanswerfive International Summit on Nomenclature for Congenital
clinicalquestions(Box1-1).Whenapproachedaccording Heart Disease was held in 2001 in Toronto and ended
to this proposal, the clinical recognition of congenital with virtually unanimous support for the development
heartdiseasebecomesastimulatingchallenge,asatisfying ofaunifiedsystemfordescribingcongenialcardiacmal-
disciplineinlogicalthinking,andaconstantsourceofself formations.27Thetermsusedhereintodescribecongen-
education.Theintensityofenquiryandtheanalyticstan- ital malformations of the heart and circulation include
dardsusedatthebedsideshouldbethesameasthosein older Latinized forms and more recent Anglicized
diagnostic laboratories. forms.28–30 The vocabulary of congenital heart disease
The Preface to the first edition stated, “I hope isrepletewithabbreviationsunderstoodonlybytheini-
to stimulate clinicians to use the basic tools readily at tiated. Accordingly, when abbreviations are used, they
their disposal—the history, the physical examination, are first defined for the reader’s convenience, but full
theelectrocardiogram,andthechestx-ray.”ThePreface terms are subsequently used. New terms are not used
tothethirdeditionstated,“Two-dimensionalechocardi- when old terms suffice. Acronyms areavoided.
ography was in its infancy when the second edition I have tried to ensure that the material in this book
appeared, but now is a routine laboratory procedure.” is accessible to a broad audience. The terminology was
Cardiac catheterization and angiography were followed assiduously addressed and based on decades of personal
by transthoracic and transesophageal echocardiography, experience. My objective remains to excite interest and
and magnetic resonance imaging, magnetic resonance tobe understood.
angiography, and computed tomography now provide
exquisite anatomic detail and refined physiologic infor-
REFERENCES
mation.21–24
Given these advanced imaging techniques, and with 1. WilliamsJR.ThelifeofGoethe.Oxford:BlackwellPublishers;1998.
moreintheoffing,hasemphasisonthehistory,physical 2. AllanL.Prenataldiagnosisofstructuralcardiacdefects.AmJMed
GenetCSeminMedGenet.2007;145C:73–76.
examination, electrocardiogram, chest x-ray, and echo-
3. Olson EN, Srivastava D. Molecular pathways controlling heart
cardiogram become irrelevant? Intelligent selection of in- development.Science.1996;272:671–676.
vestigative procedures from an ever-increasing array 4. MollerJH,HoffmanJIE,eds.Pediatriccardiovascularmedicine.
requires far more sophisticated decision making than NewYork:ChurchillLivingstone;2000.
5. MarelliAJ,MackieAS,Ionescu-IttuR,RahmeE,PiloteL.Congen-
wasnecessarywhenchoiceswerelimitedtotheelectrocar-
italheartdiseaseinthegeneralpopulation:changingprevalenceand
diogram and chest x-ray. The basic clinical assessment
agedistribution.Circulation.2007;115:163–172.
6. KhairyP,Ionescu-IttuR,MackieAS,AbrahamowiczM,PiloteL,
Marelli AJ. Changing mortality in congenital heart disease. J Am
BOX1-1 FIVEBASICQUESTIONS CollCardiol.2010;56:1149–1157.
7. ChildJS,FreedMD,MavroudisC,MoodieDS,TuckerAL.Task
1. Isthepatient’sconditionacyanoticorcyanotic? force9:traininginthecareofadultpatientswithcongenitalheart
2. Ispulmonaryarterialbloodflowincreased? disease.JAmCollCardiol.2008;51:389–393.
8. SommerRJ,HijaziZM,RhodesJrJF.Pathophysiologyofcongenital
3. Doesthemalformationoriginateintheleftorthe
heartdiseaseintheadult:partI:shuntlesions.Circulation.2008;
rightsideoftheheart?
117:1090–1099.
4. Whichisthedominantventricle? 9. RhodesJF,HijaziZM,SommerRJ.Pathophysiologyofcongenital
5. Ispulmonaryhypertensionpresent? heart disease in the adult, part II. Simple obstructive lesions.
Circulation.2008;117:1228–1237.