The Congenital Cardiac Pathology Database





An accurate, statistically analyzed database is considered to be of fundamental importance in the effort to make our field more quantitative. At present, almost no book on pediatric cardiology, pediatric cardiac surgery, or pediatric cardiac pathology has a database. We initially thought that Abbott’s epochal Atlas of Congenital Cardiac Disease, based on 1000 postmortem cases, was an exception.


However, on further investigation we found that this classic was, to a major degree, a literature review, not a consecutive series of personally studied cases.


Fortunately, however, there are at least four excellent exceptions:




  • The Report of the New England Regional Infant Cardiac Program (RICP) by Fyler and his associates



  • The Baltimore-Washington Infant Study (BWIS) of Ferencz and her colleagues ,



  • The Pathology of Congenital Heart Disease by Bharati and Lev



  • Necropsied Cases of Japanese Patients with Congenital Heart Disease by Ando and his coworkers



The publications of Fyler and Ferencz , are epidemiologic studies, whereas the books by Bharati and Lev and Ando are pathology studies. To the best of our present knowledge, these are the only published data with which our own findings can be compared statistically.


Although terminology, the understanding of etiology and morphogenesis, and the methods of diagnosis and treatment of congenital heart disease all will change to some extent over time, nonetheless the pathologic anatomy appears to be a virtual constant. Hence, the primary emphasis of the present study is on pathologic anatomic data .


Table 5.1 is a summary of the congenital cardiac pathology database, based on personal study of 3216 consecutive cases. These cases were studied at the Children’s Hospital in Boston, from 1951 to 1997 inclusive, a consecutive 47-year period. We have seven cases between 1944 and 1950, but the consecutive series did not begin until 1951. Cases from 1965 and earlier were studied retrospectively, whereas patients from 1966 on were examined prospectively.



TABLE 5.1

The Congenital Cardiac Pathology Database (n = 3216)




































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































































Entity Number Rank Order Type of Congenital Heart Disease Number of Patients % of Series 95% Confidence Interval
1 1st Ventricular septal defect, all types 1165 36.23 34.56–37.90
2 2nd Atrial septal defect, ostium secundum type 793 24.66 23.17–26.15
3 3rd Patent ductus arteriosus (>2 weeks of age) 565 17.57 16.26–18.88
4 4th Transposition of the great arteries, all types 488 15.17 13.94–16.40
5 5th Common atrioventricular canal, all types 481 14.96 13.73–16 .19
6 6th Tetralogy of Fallot 428 13.31 12.14–14.48
7 7th Aortic stenosis, all types 398 12.38 11.24–13.52
8 8th Persistent left/right superior vena cava 415 12.90 11.74–14.06
9 9th Coarctation of aorta, all types 379 11.78 10.67–12.89
10 10th Pulmonary stenosis, all types 338 10.51 9.45–11.57
11 11th Double-outlet right ventricle, all types 265 8.24 7.29–9.19
12 12th Coronary artery anomaly, all types 261 8.12 7.18–9.06
13 13th Bicuspid (bicommissural) aortic valve 258 8.02 7.08–8.96
14 14th Bicuspid (bicommissural) pulmonary valve 248 7.71 6.79–8.63
15 15th Aortic atresia, valvar 235 7.31 6.41–8.21
16 16th Right aortic arch in situs solitus or left aortic arch in situs inversus 225 7.00 6.12–7.8
17 17th Mitral stenosis, congenital 224 6.97 6.09–7.5
18 18th Mitral regurgitation 216 6.72 5.85–7.59
19 18th Endocardial fibroelastosis of the left ventricle 216 6.72 5.85–7.59
20 19th Totally anomalous pulmonary venous connection 203 6.31 5.47–7.15
21 20th Pulmonary atresia with ventricular septal defect, all types (tetralogy of Fallot excluded) 198 6.16 5.33–6.99
22 21st Mitral atresia 183 5.59 4.89–6.49
23 22nd Aberrant right or left subclavian artery 170 5.29 4 .52–6.06
24 23rd Dextrocardia 120 3.73 3.08–4.38
25 24th Hypoplasia or absence of the left ventricle 113 3.51 2.87–4.15
26 24th Tricuspid regurgitation, congenital 113 3.51 2.8 7–4.15
27 25th Tricuspid atresia 111 3.45 2.82–4.08
28 25th Truncus arteriosus 111 3.45 2.82–4.08
29 26th Common atrium 108 3.36 2.74–3.98
30 27th Asplenia syndrome 94 2.92 2.34–3.50
31 28th Pulmonary atresia with intact ventricular septum 88 2.74 2.18–3.30
32 29th Ebstein anomaly 83 2.58 2.03–3.13
33 29th Tricuspid stenosis, congenital 83 2.58 2.03–3.13
34 30th Single left ventricle with infundibular outlet chamber 81 2.52 1.98–3.06
35 30th Right ventricular hypoplasia, primary 81 2.52 1.98–3.06
36 31st Interrupted aortic arch 67 2.08 1.59–2.57
37 31st Major aortopulmonary collateral arteries 67 2.08 1.59–2.57
38 32nd Aortic regurgitation, congenital 64 1.99 1.51–2.47
39 33rd Unicuspid (unicommissural) aortic valve 63 1.96 1.48–2.44
40 34th Polyvalvular disease 62 1.93 1.45–2.41
41 35th Absent ductus arteriosus 59 1.83 1.37–2.29
42 36th Polysplenia syndrome 57 1.77 1.31–2.23
43 37th Cleft mitral valve 43 1.34 0.94–1.74
44 38th Interrupted inferior vena cava 42 1.31 0.92–1.70
45 38th Partially anomalous pulmonary venous connection 41 1.27 0.88–1.66
46 39th Straddling tricuspid valve 41 1.27 0.88–1.66
47 40th Juxtaposition of the atrial appendages, left-sided 38 1.18 0.81–1.55
48 41st Coronary sinus septal defect 36 1.12 0.76–1.48
49 41st Premature closure of the foramen ovale 36 1.12 0.76–1.48
50 42nd Anomalous muscle bundles of the right ventricle 33 1.03 0.68–1.38
51 42nd Sinusoids 33 1.03 0.68–1.38
52 43rd Absent pulmonary valve leaflets 31 0.96 0.62–1.30
53 44th Double-orifice mitral valve 28 0.87 0.55–1.19
54 45th Hypertrophic cardiomyopathy 26 0.81 0.50–1.12
55 45th Single right ventricle (left ventricle absent) 26 0.81 0.50–1.12
56 45th Hypoplastic mitral valve 26 0.81 0.50–1.12
57 46th Brachiocephalic arteries, anomalies of 25 0.78 0.48–1.08
58 46th Left ventricular outflow tract obstruction 25 0.78 0.48–1.08
59 47th Heart block, complete, congenital 24 0.75 0.45–1.05
60 48th Potentially parachute mitral valve with common atrioventricular canal 23 0.72 0.43–1.01
61 48th Straddling mitral valve 23 0.72 0.43–1.01
62 48th Left ventricular inlet and outlet obstruction 23 0.72 0.43–1.01
63 49th Superoinferior ventricles 22 0.68 0.40–0.96
64 50th Vascular ring 21 0.65 0.37–0.93
77 55th Anterolateral muscle of the left ventricle (muscle of Moulaert), prominent 13 0.40 0.18–0.62
78 55th Marfan syndrome 13 0.40 0.18–0.62
79 55th Absence of a pulmonary artery branch 13 0.40 0.18–0.62
80 55th Scimitar syndrome 13 0.40 0.18–0.62
81 56th Cor triatriatum (sinistrum) 12 0.37 0.16–0.58
82 57th Double aortic arch 11 0.34 0.14–0.54
83 58th Sinus venosus defect 10 0.31 0.12–0.50
84 58th Quadricuspid aortic valve 10 0.31 0.12–0.50
85 58th Supramitral stenosing ring 10 0.31 0.12–0.50
86 58th William syndrome 10 0.31 0.12–0.50
87 58th Crisscross hearts 10 0.31 0.12–0.50
88 58th Aneurysms of sinus venosus 10 0.31 0.12–0.50
89 59th Aneurysm of the left ventricle, congenital 9 0.28 0.10–0.46
90 60th Bicuspid truncal valve 9 0.28 0.10–0.46
91 60th Ectopia cordis 9 0.28 0.10–0.46
92 60th Isolated levocardia 9 0.28 0.10–0.46
93 60th Lung, absence of 9 0.28 0.10–0.46
94 60th Uhl disease of the right ventricle 9 0.28 0.10–0.46
95 61st Left ventricular dysplasia 8 0.25 0.08–0.42
96 61st Pulmonary artery sling 8 0.25 0.08–0.42
97 62nd Blood cyst, prominent 7 0.22 0.06–0.38
98 62nd Typical congenital mitral stenosis with left ventricular outflow tract obstruction 7 0.22 0.06–0.38
99 62nd Quadricuspid pulmonary valve 7 0.22 0.06–0.38
100 62nd Absence or atresia of the right superior vena cava 7 0.22 0.06 to .38
101 63rd Common-inlet right ventricle 6 0.19 0.04–0.34
102 63rd Cantrell syndrome 6 0.19 0.04–0.34
103 63rd Left ventricular to right atrial shunt 6 0.19 0.04–0.34
104 63rd Myxomatous mitral valve 6 0.19 0.04–0.34
105 63rd Absence or hypoplasia of left ventricular papillary muscle, without parachute mitral valve 6 0.19 0.04–0.34
106 63rd {S,L,S}, i.e., isolated ventricular inversion 6 0.19 0.04–0.34
107 64th Anatomically corrected malposition {S,D,L} 5 0.16
108 64th Anomalous muscle bundles of the left ventricle 5 0.16
109 64th Double-outlet infundibular outlet chamber 5 0.16
110 64th Discontinuous pulmonary artery branches 5 0.16
111 64th {I,D,S}, i.e., situs inversus of atria, D-loop ventricles, solitus normally related great arteries 5 0.16
112 64th Rhabdomyoma 5 0.16
113 65th Absence of main pulmonary artery 4 0.12
114 65th Obstructive bulboventricular foramen 4 0.12
115 65th Chiari network, prominent 4 0.12
116 65th Displaced septum primum 4 0.12
117 65th Isolation of the left atrial appendages 4 0.12
118 65th Retroaortic innominate vein 4 0.12
119 65th Left ventricular diverticulum, apical 4 0.12
120 65th Absence or defect of pericardium 4 0.12
121 65th Pulmonary artery branch from ascending aorta (“hemitruncus”) 4 0.12
122 65th Functionally single right ventricle, i.e., diminutive left ventricle present 4 0.12
123 66th Congenitally unguarded tricuspid orifice, i.e., absent tricuspid leaflets 3 0.09
124 66th Diverticulum of Kommerell 3 0.09
125 66th Double-outlet right atrium, i.e., one atrioventricular valve opening into each ventricle 3 0.09
126 66th Intussusception of the left atrial appendage (inside-out appendage) 3 0.09
127 66th Isolated left subclavian artery 3 0.09
128 66th Right atrial outlet atresia, i.e., right-sided “mitral” atresia with large left ventricle 3 0.09
129 66th Raghib syndrome 3 0.09
130 66th {S,L,I}, i.e., solitus atria, L-loop ventricles, with inverted normally related great arteries 3 0.09
131 67th Aneurysm of sinus of Valsalva 2 0.06
132 67th Annuloaortic ectasia 2 0.06
133 67th Adherent mitral valve (plastered against left ventricular septal surface) 2 0.06
134 67th Isolated ostium primum type of atrial septal defect (without cleft mitral valve or ventricular septal defect of atrioventricular canal type) 2 0.06
135 67th {A(S),L,I} i.e., situs ambiguus of the viscera, solitus atria, L-loop ventricles, and inverted normally related great arteries 2 0.06
136 67th Ostial stenosis of pulmonary arterial branch 2 0.06
137 67th Atrioventricular situs discordance with atrioventricular alignment concordance 2 0.06
138 67th Common-inlet left ventricle 2 0.06
139 67th Crossed pulmonary arteries 2 0.06
140 67th Common ventricle (ventricular septum absent) 2 0.06
141 67th Endocardial fibroelastosis of the left ventricle, familial 2 0.06
142 67th {I,L,I}, i.e., situs inversus of viscera and atria, L-loop ventricles, and inverted normally related great arteries 2 0.06
143 67th Inferior vena cava, narrowing of at level of liver 2 0.06
144 67th Moderator band of left ventricle 2 0.06
145 67th Innominate vein anterior to thymus 2 0.06
146 67th Malincorporation of common pulmonary vein 2 0.06
147 67th Right atrium, idiopathic dilatation of 2 0.06
148 67th Right ventricular dysplasia syndrome 2 0.06
149 67th Right ventricle, small chambered and thick walled (without pulmonary atresia and intact ventricular septum) 2 0.06
150 67th Straddling of both tricuspid valve and mitral valve 2 0.06
151 67th {S,D,I}, i.e., isolated infundibuloarterial inversion 2 0.06
152 67th Subclavian artery as first branch of aortic arch 2 0.06
153 67th Right superior vena cava draining into left atrium 2 0.06
154 67th Triple-orifice mitral valve 2 0.06
155 67th Triple-orifice tricuspid valve 2 0.06
156 67th Muscular tricuspid valve 2 0.06
157 68th Acardia (in twin) 1 0.03
158 68th Aneurysm, coronary sinus 1 0.03
159 68th Acommissural aortic valve 1 0.03
160 68th Absence of aortic valve leaflets 1 0.03
161 68th {A(I),L,I}, i.e., situs ambiguus of the viscera, inverted atria, L- loop ventricles and inverted normally related great arteries 1 0.03
162 68th {A(I),L,S}, i.e., isolated infundibuloarterial noninversion 1 0.03
163 68th Absence of left atrial appendage 1 0.03
164 68th {A,L,I}, i.e., situs ambiguus of viscera and atria, L-loop ventricles, and inverted normally related great arteries 1 0.03
165 68th Alagille syndrome, i.e., peripheral pulmonary stenosis, cholestasis, and odd facies 1 0.03
166 68th Cervical aortic arch 1 0.03
167 68th Cor triatriatum dextrum 1 0.03
168 68th Double-inlet and double-outlet right ventricle 1 0.03
169 68th Double-outlet left atrium, i.e., one atrioventricular valve to each ventricle 1 0.03
170 68th Fifth aortic arch, persistent 1 0.03
171 68th Glycogen storage disease (Pompe disease) 1 0.03
172 68th Infundibular atresia, isolated 1 0.03
173 68th Carotid artery, isolated 1 0.03
174 68th {I,D,I}, i.e., isolated ventricular noninversion 1 0.03
175 68th Left innominate artery, isolated 1 0.03
176 68th {IS,D,S} with polysplenia, i.e., situs inversus of the viscera, situs solitus of the atria, D-loop ventricles, and solitus normally related great arteries 1 0.03
177 68th Interseptovalvular space, prominent 1 0.03
178 68th Inferior vena cava, right-to-left switching of (at liver) 1 0.03
179 68th Inferior vena cava draining into left atrium via coronary sinus septal defect 1 0.03
180 68th Levoatrial cardinal vein 1 0.03
181 68th Left atrium, absence of 1 0.03
182 68th Left subclavian artery, ostial stenosis of 1 0.03
183 68th Microcardia 1 0.03
184 68th Multiple orifice common atrioventricular valve 1 0.03
185 68th Multiple orifice tricuspid valve 1 0.03
186 68th Congenitally unguarded mitral orifice, i.e., absence of mitral leaflets 1 0.03
187 68th Mitral valve causing left ventricular outflow tract obstruction 1 0.03
188 68th Mitral valve, partly muscular 1 0.03
189 68th Normally related great arteries with bilateral conus 1 0.03
190 68th Origin of the right and left pulmonary artery branches from ascending aorta 1 0.03
191 68th Overriding tricuspid valve 1 0.03
192 68th Pseudocoarctation of the aorta 1 0.03
193 68th Premature closure of the ductus arteriosus 1 0.33
194 68th Patent ductus venosus 1 0.33
195 68th Premature narrowing of the foramen ovale 1 0.03
196 68th Rendu-Osler-Weber disease, i.e., pulmonary arteriovenous fistulae and familial hemorrhagic telangiectasia 1 0.03
197 68th Solitary aorta arising above the right ventricle with absence of the main pulmonary artery 1 0.03
198 68th Supramitral band, congenital 1 0.03
199 68th Submitral network 1 0.03
200 68th Senger syndrome, i.e., nonobstructive hypertrophic cardiomyopathy with cataracts 1 0.03
201 68th Teratoma, intrapericardial 1 0.03
202 68th Umbilical vein running anteriorly and superiorly to the liver 1 0.03
203 68th Vascular vice with totally anomalous pulmonary venous connection 1 0.03

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Aug 8, 2022 | Posted by in CARDIOLOGY | Comments Off on The Congenital Cardiac Pathology Database

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