Cardiovasc lntervent Radiol (1984) 7:115-120

CardioVascular andlnterventional
9 Springer-Verlag 1984

Diagnosis of Complex Congenital Heart Disease: Morphologic-Anatomic Method and Terminology*

Richard Van Praagh
Departments of Pathology and Cardiology, Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA

Abstract. A summary and brief illustration of the morphologic-anatomic method of diagnosis of congenital heart disease is presented. The principles of scientific neologizing are considered and exemplified. Scientific freedom of speech and expression is commented upon. It is suggested that unnecessary renaming of numerous cardiac anatomic structures and many forms of congenital heart disease be discontinued, and that terminology be de-emphasized.
Key words: Morphologic anatomy, diagnosis, classification, terminology - Neologisms - Congenital anomalies, classification of

(3) mesocardia, midline heart; and (4) ectopia cordis, partially or completely extrathoracic heart.

Morphologic-Anatomic Approach to Diagnosis (Fig. 1)

The morphologic-anatomic approach [3-8] to the diagnosis of congenital heart disease (CHD) is based on the situs, alignments, connections, and associated malformations of the cardiac segments (anatomic and developmental components which together make up all human hearts). The main cardiac segments (Fig. 1) are: {atria, ventricles, great arteries}. The braces { } indicate that the three main cardiac segments may be viewed as the members of a set (in the mathematical sense of set theory). The segmental approach to diagnosis is sequential, i.e., the main cardiac segments are organized in a logical veno-arterial sequence: {atria, ventricles, great arteries} (Fig. 1). The connecting cardiac segments, not shown in Figure 1, connect the main cardiac segments. The atrioventricular (AV) canal or junction connects the atria and the ventricles, while the infundibulum or conus connects the ventricles and the great arteries. In our notation (Fig. 1), the situs of the three main cardiac segments is indicated within the braces: (atrial situs, ventricular situs, great arterial situs}. Significant abnormal ventriculoarterial alignments, such as transposition of the great arteries (TGA), are indicated before the braces : T G A {-,-,-}. Important abnormal segmental connections and other associated cardiovascular anomalies customarily are listed after the braces: {-,-,-} with straddling tricuspid valve and ventricular septal defect of the AV canal type.

For those who wish to understand the fascinating complexities of congenital heart disease, Figure 1 and its legend will repay careful study. The accompanying text summarizes the morphologic-anatomic approach [1-8] to the diagnosis of congenital heart disease. This method and its terminology have stood the test of time, apply conveniently in all situations (no matter how complex), and have not required any significant changes over the past decade or more at the Children's Hospital in Boston. References to the anatomy are made as follows:

Cardiac Positions
(1) levocardia, left-sided heart; (2) dextrocardia, right-sided heart;
* Supported in part by a grant from the Mabel Louise Riley Foundation, Boston, MA
Address reprint requests to: Richard van Praagh, M.D., Departments of Pathology and Cardiology, Children's Hospital Medical Center, 300 Longwood Avenue, Boston, MA 02115, USA

116

R. Van Praagh: Diagnosis of Complex Congenital Heart Disease

( , ~ Ant Fig. 1. Morphologic-anatomic diagnosis of congenital heart disease. Heart diagrams viewed from below, to correlate NORMAL with frontal angiocardiography and subxiphoid two-dimensional echocardiography. Ant = anterior (ventral); tS, D,SI Horizontal Plane [I.L, II 1 Viewed from Below 2 Post=posterior (dorsal); R=-right; L = left. RA=morphologically right atriO ,TEO um; LA = morphologically left atrium; VENTRICULAR [ LV ] RV i L RV I LV t RV=morphologically right ventricle; DISCORDANCE [ RA I LA I ~I.A I RA" LV = morphologically left ventricle; iSlL.Sl II,O,[I 1 2 aortic valve, indicated by coronary ostia; pulmonary valve, distinguished by absence of coronary ostia; broken lines delineate types of heart not deISOLATED % scribed when this diagram was made. ATRIAL [ LV [ RV I Braces { } indicate a set, in the NONINVERSION [ RA [ LA 1 mathematical sense; each set has three IS, L,II members, {1, 2, 3}; member 1 =atrial situs; member 2=ventricular situs; member 3 =great arterial situs; atrial TRANSPOSITION ~)) ~ ~ t ~ situs solitus={S,-,-}; atrial situs inversus = {I,-,-} ; atrial situs ambiGREAT RA LA RA LA [ LA ] RA J LI-A ] RA ] guus= {A, ,-} (not shown); ventricuARTERIES i S,D,DI {S.L~.I II ,L,LI II ,D,Dt lar situs solitus or D - l o o p = { - , D , - } ; t 2 3 4 ventricular situs inversus or L-loop = ANATOMICALLY ~ % (r!~t,2-, a {-, L,-}; ventricular situs ambiguus or X - l o o p = { - , X , - } (not shown); solitus CORRECTED normally related great arteries = {-,-, S} ; inverted normally related great arof [~le RA LA RA LA L: -LA--~---..al ' RA I LA I RA ] teries = {-,-, I} ; solitus or D-transposiGREAT ARTERIES ~S.D.LI {S,L,DI t|,L,DI I I,D,LI 1 2 3 4 tion, or D-malposition of the great arteries={-,-,D}; inverted or L-transposition, or L-malposition of the great arteries= {-,-,L}; ambiguus or anOUTLET LV LV RV LV RV RV LV tero-transposition, or A-transposition, or A-malposition of the great arterVENTR ICLE r t S.L .L~ I I, L.LI I I.D,D I ies = { ,-, A} (not shown). 1 2 3 4 Diagram is organized in five colurns from left to right, 1-5, according to segmental alignments: column 1 OUTLET RV LV .... _RV_! LV _R_V~ r----Z;" *" names the various types of ventricu-4" ~. . . . .L . . . . "e - - - 4 LEFT RA LA ' RA ' LA ', ~, LA I R A ..j , LA ]RA ', loarterial (VA) alignments and connecVENTRICLE ~S.D.O; !S.L.L ; t I.L.LI I I,D.DI tions; columns 2 and 3 have viscero1 2 3 4 atrial situs solitus; columns 4 and 5 have visceroatrial situs inversus; viscero-atrial situs ambiguus is not shown; columns 2 and 4 have concordant atrioventricular (AV) alignments; columns 3 and 5 have discordant AV alignments. Diagram is organized in seven rows, 1-7, from top to bottom, according to the various types of ventriculoarterial (VA) alignments and connections. Rows 1-3 have normally related great arteries. Row 1, the two normal hearts: solitus normal heart = {S, D, S}; and inverted " n o r m a l " heart {I, L, I}. Row 2 shows isolated ventricular discordance: isolated ventricular inversion= {S, L, S}; and isolated ventricular noninversion-{I, D, ]}. Row 3 shows isolated atrial noninversion= {S, L, I}, also known as visceroatrial situs solitus, with ventricular inversion, and inverted normally related great arteries. Row 4 shows the various types of transposition of the great arteries (TGA): physiologically uncorrected or complete TGA in situs solitus=TGA {S, D, D}; physiologically corrected or inverted TGA in situs solitus=TGA {S, L, L}; physiologically uncorrected or complete TGA in situs inversus=TGA {I, L, L}; physiologically corrected or noninverted TGA in situs inversus=TGA {I, D, D}; TGA in situs ambiguus, usually with asplenia or polysplenia=TGA {A, D, D} and TGA {A, L, L} are not shown. Not illustrated is TGA with directly anterior aortic valve (AoV), and with leftward AoV, in visceroatrial situs solitus=TGA {S, D, A}, and TGA {S, D, L}; and TGA with directly anterior aortic valve, and with rightward aortic valve, in visceroatrial situs inversus=TGA {I, L, A}, and TGA {I, L, D} also are not shown. Similarly, Rows 5-7 depict some of the types of anatomically corrected malposition of the great arteries (ACM), double-outlet right ventricle (DORV), and double-outlet left ventricle (DOLV). The commonest form: of ACM is ACM {S, D, L} [2]; of DORV is DORV {S, D, D} [22]; and of DOLV, but now not the only form known, is DOLV {S, D, D} [23]. Within the braces is the segmental situs set, e.g., {S, D, D} or {S, L, L}. Before the braces the VA a l i g n m e n t = T G A {-,-,-} or DORV {-,-,-} is shown; while after the braces come the atrioventricular (AV) malalignments and the associated cardiovascular malformations, e.g., { , ,-} with straddling tricuspid valve, ventricular septal defect of the AV canal type, and small-chambered RV. (Reproduced by permission of the American Heart Association, Inc., from Van Praagh [4].)

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R. Van Praagh: Diagnosis of Complex Congenital Heart Disease

117

Types of Visceroatrial Situs (Fig. 1, Columns 2-5)

(1) situs solitus (S), i.e., normal or noninverted pattern of anatomic organization, with solitus morphologically right atrium (RA) [6] to the right, and solitus morphologically left atrium (LA) [6] to the left; (2) situs inversus (I), i.e., inverted or mirrorimage pattern of anatomic organization, with inverted RA to the left and inverted LA to the right; and (3) situs ambiguus (A), with an anatomically uncertain type of viscero-atrial situs (often seen with the asplenia and polysplenia syndromes, rarely with normally formed spleen, not shown in Fig. 1).
Types o f Ventricular Situs (Fig. 1)

(1) solitus or D-loop ventricles (D), i.e., solitus morphologically right ventricle (RV) typically to the right of the solitus morphologically left ventricle (LV) [6-8]; (2) inverted or L-loop ventricles (L), i.e., inverted RV typically to the left and inverted LV to the right [6-8]; and (3) ambiguous or X-loop ventricles (X--unknown) (not shown in Fig. 1) [2].
Types of Arterial Situs (Fig. 1)

(1) Situs solitus. Solitus normally related great arteries (S) and D-transpositions and D-malpositions of the great arteries (D) are in situs solitus [81. (2) Situs inversus. Inverted normally related great arteries (I) and L-transpositions and L-realpositions of the great arteries (L) are in situs inversus [8].

(9) double-outlet RA [10]; and (10) common A V canal. An important distinction exists between AV alignments and AV eonneetions [8]. Accurately speaking, the atria do not connect with the ventricles (except at the bundle of His) because of the interpositions of the AV canal or junction. One of the most important functions of the AV canal is to separate the atria from the ventricles, thereby affording electrical insulation of the atria from the ventricles, except at the His bundle. The atria are connected with the ventricles, by the AV junction. (Note that the passive voice, are connected, is anatomically accurate, whereas the active voice, connect, is anatomically erroneous.) The AV connections per se, i.e., the TV and the MV, are virtually always concordant relative to their ventricles of entry. In other words, the AV connections themselves (the TV and the MV) are essentially never discordant relative to the ventricles, because the situs of the AV valves and of the ventricles are typically the same. In the interests of anatomic accuracy, therefore, it is important to distinguish between AV alignments and AV connections, which are very different things. The situs of the AV connecting segment (mainly the MV and the TV) is a dependent variable [8], i.e., dependent on, and the same as, the situs of the ventricles; whereas the situs of the other four diagnostically important segments (atria, ventricles, infundibulum, and great arteries) are independent variables [8]. Ventricular situs (D-loop/L-loop) should be diagnosed specifically, because it cannot be inferred with consistant accuracy from the AV alignments (concordant/disconcordant) [7, 8].
Vil Alignments and Connections

(3) Situs ambiguus. A-transposition and A-realposition of the great arteries (A) are in situs ambiguus (neither solitus, nor inversus) [8].
A V Alignments and Connections

(1) concordant [2], RA opening into RV and LA into LV (Fig. 1); (2) discordant [2], RA opening into LV, and LA into RV (Fig. 1); (3) tricuspid atresia ; (4) straddling tricuspid valve (TV); (5) double-inlet L V ; (6) mitral atresia ; (7) straddling mitral valve (MV); (8) double-inlet R V ;

Ventriculoarterial (VA) alignments may be (Fig. 1, column 1): (1) normal-solitus normal, or inverted normal; (2) transposition of the great arteries (TGA)-DTGA, L-TGA, or A-TGA (not shown in Fig. 1); (3) anatomically corrected malposition of the great arteries (ACM); (4) double-outlet right ventricle (DORV); and (5) double-outlet left ventricle (DOLV). Again, there is an important distinction between VA alignments (as above) and VA connections [8]. To describe the anatomy accurately, the ventricles do not connect with the great arteries because of the interposition of the infundibulum or conus; rather, the ventricles and the great arteries are connected in various ways by the conus; or that the

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R. Van Praagh: Diagnosis of Complex Congenital Heart Disease

conus connects the ventricles and the great arteries in variable ways (as above).
Discussion

and morphologic. This is the principle of specific-

ity.
New understanding (be it anatomic, embryologic, or etiologic) seldom is a valid reason for changing diagnostic terminology. New understanding should be used to enrich the old terms, not to destroy them. For example, just because we now think that transposition of the great arteries (TGA) is due to infundibulo-arterial situs discordance [8], we do not think that this is a valid reason for proposing that T G A be renamed. There is nothing wrong with the old term " T G A " . Hence, to change this term would be to violate the principle of necessity. The price of each new insight should not be changes in diagnostic terminology. Otherwise our terminologic "improvements" will soon result in a tower of Babel. Let us briefly consider objectively some recent neologisms. References are intentionally omitted because it is not my intent to suggest praise or blame in any personal sense. We are considering three principles (necessity, economy, and specificity) that constitute the basis of scientific neologizing, and that apply to all o f us: (1) "crisscross AV relations," a success because it is necessary and graphic; (2)" primitive ventricle," a failure - not because of its embryologic origins (many successful clinical diagnostic terms are of embryologic provenance - secundum atrial septal defect, primum atrial septal defect, sinus venosus atrial septal defect, common AV canal, truncus arteriosus communis, patent ductus arteriosus) - but because "primitive ventricle" has no specific morphologic anatomic meaning (a violation of the principle of specificity); (3) " m a i n chamber," "accessory chamber," "outlet chamber," and "trabeculated p o u c h " also have no specific morphologic anatomic meanings (additional violations of the principle of specificity: in terms of morphologic anatomy, there are only three chambers below the atria-LV, RV, and infundibulum); (4) "univentricular heart of left ventricular type," an unnecessary and wordy synonym for "single L V " (violations of the principles of necessity and economy) ; " univentricular heart of left ventricular type with absent right atrio-ventricular connection," jargon for "tricuspid atresia" (ignores the principles of necessity and economy); and (5) "anterior communicating AV node," necessary and concise, hence a success. Thus good neologisms are necessary, brief, and specific; bad ones are not. We should adhere to morphologic-anatomic ter-

The advantages of the morphologic-anatomic approach [1-8] to the diagnosis of congenital heart disease, with its morphologic segmental terminology (Fig. 1), are many. This segment-by-segment, alignment-by-alignment, and connection-by-connection method has been called the segmental approach [1-8] to diagnosis. It has also been designated the sequential approach [9] because it proceeds in a logical venoarterial sequence from the atria, to the ventricles, to the great arteries. This diagnostic method has also been called the systematic approach [11] to differential diagnosis. With minor variations in emphasis, this morphologicanatomic approach to the diagnosis of congenital heart disease - which is segmental [1-8], and sequential [9], and systematic [i 1] - has won worldwide approval [9, 11-16]. Since the terminology of the morphologic-anatomic approach is largely based on Latin, it readily transcends many language barriers and is essentially international. The Latin-based segmental symbols are widely understood (Fig. 1), whereas words and longer descriptive phrases may not be.

Neologisms

Since language in general, and scientific terminology in particular, are constantly evolving, there can be no lasting status quo. As Ernest Weekley put it, "Stability in language is synonymous with rigor mortis." In terminology, therefore, the only constant we can ever know is change. But some changes are better than others. Consequently, it is important that physicians in academic medicine become competent and responsible neologists. Changes in terminology are operations on the taxonomic body of our speciality. Changes in nomenclature, both good and bad, confuse practitioners. Unnecessary changes in terminology, like unnecessary surgery, should therefore be avoided. A summary of suggestions for neologizing follows: 1. Do not introduce any new term unless it is absolutely necessary, i.e., unless there is no extant term, or unless the existing nomenclature is very inaccurate. This is the principle of necessity. 2. Avoid verbosity, when flagrant known as gobbledigook [17]. This is the principle of economy. 3. New terms, in addition to being essential and brief, must also be specific, mutually exclusive,

R. Van Praagh" Diagnosis of Complex Congenital Heart Disease

119

minology (e.g., RA, LA, RV, LV, infundibulum, etc.) as in Figure 1. Morphologic-anatomic terms are strictly limited by morphologic-anatomic reality. Non-morphologic-anatomic terms - designations that have no specific morphologic anatomic meaning - should be avoided (e.g., " m a i n chamber," "accessory chamber," "outlet chamber," "trabeculated pouch," "primitive ventricle"). The terminology of congenital heart disease should not violate the principles of logic. For example, one variable cannot be used to define another variable. For instance, ventricular situs is one variable. AV alignment (e.g., concordant or discordant) is another (and a different) variable. Consequently, one cannot diagnose the ventricular situs (D-loop or L-loop) with consistent accuracy by means of the AV alignments (concordant or discordant), because these are two different variables [7, 8]. Similarly, one cannot with confidence diagnose the anatomic status of the ventricles (e.g., the presence or absence of single ventricle) by means of the AV alignments because, again, these are two different variables [7, 8]. Each variable must be defined in terms of itself. Thus, the diagnosis of single ventricle depends on the anatomy of the ventricular portion of the heart, not on the status of the AV alignments [18]. Each is an independent variable. For example, double-inlet RV occurs with and without single RV. Single LV occurs with and without double-inlet L u [18, 19]. Independent variables should be diagnosed independently; one cannot be used to infer the other. Freedom of speech - including the right to use whatever terms one happens to prefer - is the life's blood of all forms of science, including cardiology. Enforced terminologic conformity, for any "reason" whatsoever, must be avoided. Terminologies and coding systems should be descriptive (based on the terms that are actually being used), not prescriptive (based on the terms that " s h o u l d " be used). In all forms of language, usage is king. The terminologic aspects of congenital heart disease should be de-emphasized. Terminology is not one of the great problems facing pediatric cardiology. Indeed, we think that the terminology of congenital heart disease is largely a solved problem (Fig. 1). No terminology is perfect, however, and all language must keep on evolving, or die. But numerous unnecessary changes and synonymizing (such as univentricular heart instead of single ventricle) should be avoided on principle. The real problems facing those who are professionally concerned with congenital heart disease include:

(1) How can we improve diagnostic accuracy, both prenatally and postnatally? (2) How can we deliver more effective therapy, both medical and surgical? (3) How can we acquire a better understanding of etiology and morphogenesis, in order to facilitate the prediction and prevention of congenital heart disease? It is a sobering fact that despite our excellent diagnostic and therapeutic facilities, congenital heart disease remains a leading cause of death at our hospital [20] and at other children's hospitals nationwide. Hence, I would gently suggest that the renaming of congenital heart disease should be quietly discontinued, not only because it is unnecessary, but also because we have many more important things to do. Acknowledgements. My thanks to Gloria Gaskill for clerical
assistance and to Terrence Wrightson and his colleagues for photography.

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120 congenitas. Fundamentos y utilidad. Rev Esp Cardiol 30:557-566 13. Stanger P, Rudolph AM, Edwards JE (1977) Cardiac malpositions, an overview based on study of sixty-five necropsy specimens. Circulation 56:159-172 14. Tynan MJ, Becker AE, Macartney F J, Quero Jimenez M, Shinebourne FA, Anderson RH (1979) Nomenclature and classification of congenital heart disease. Br Heart J 41:544-553 15. Calcaterra G, Anderson RH, Lau KC, Shinebourne EA (1979) Dextrocardia - value of segmental analysis in its categorization. Br Heart J 42:497-507 16. Ando M, Santomi G, Takao A (1980) Atresia of tricuspid or mitral orifice: Anatomic spectrum and morphogenetic hypothesis. In: Van Praagh R, Takao A (eds) Etiology and morphogenesis of congenital heart disease. Futura, Mr. Kisco, New York, pp 421-487 17. Pei M (1965) The story of language. Language and political institutions. Mentor Books, New American Library, New York, pp 263-264 18. Van Praagh R, Plett JA, Van Praagh S (1979) Single ventricle: Pathology, embryology, terminology, and classification. Herz 4:113-150

R. Van Praagh: Diagnosis of Complex Congenital Heart Disease 19. Van Praagh R, Wise JR, Dahl BA, Van Praagh S (1980) Single left ventricle with infundibular outlet chamber and tricuspid valve opening only into outlet chamber in a 44-year-old man with thoracoabdominal ectopia cordis without diaphragmatic or pericardial defect: Importance of myocardial morphologic method of chamber identification in congenital heart disease. In: Van Praagh R, Takao A (eds). Etiology and morphogenesis of congenital heart disease, Futura, Mr. Kisco, New York, pp 379-420 20. Van Praagh R, Visner MS (1976) The postoperative pathology of congenital heart disease. Am J Cardiol 38:225-230 21. Van Praagh R, Durnin RE, Jockin H, Wagner HR, Korns M, Garabedian H, Ando M, Calder AL (1975) Anatomically corrected malposition of the great arteries {S,D, L}. Circulation 51:20-31 22. Van Praagh S, Davidoff A, Chin A, Shiel FS, Reynolds J, Van Praagh R (1982) Double-outlet right ventricle: Anatomic types and developmental implications based on a study of 101 autopsied cases. Coeur 13:389-439 23. Van Praagh R, Weinberg PM (1977)Double-outlet left ventricle. In: Moss A J, Adams FH, Emmanouilides GC (eds) Heart disease in infants, children and adolescents. Williams and Wilkins, Baltimore, pp 367-380