Atrioventricular Canal in Down
Syndrome
Prevalence of Associated Cardiac Malformations With Patients Without Down Syndrome
Compared
Bruno Marino, MD; Ugo Vairo, MD; Antonio Corno, MD; Simonetta Nava, MD; Paolo Guccione, MD; Raffaele Calabr\l=o'\,MD; Carlo Marcelletti, MD \s=b\ The atrioventricular canal is the "classic" congenital heart anomaly in Down syndrome. We may learn more of the nature of this disorder by careful study of the anatomic characteristics of the cardiac lesions and by comparing these lesions in patients with and patients without Down syndrome. We reviewed the clinical characteristics (echocardiographic and angiocardiographic) of 220 patients with atrioventricular canal and compared the prevalence of anatomic types and associated cardiac malformations in children with (105) and without (115) Down syndrome. In patients with Down syndrome, the complete form of atrioventricular canal was prevalent, with a high frequency of associated Fallot's tetralogy. Partial atrioventricular canal and left-sided anomalies were more common in patients without Down syndrome. Down syndrome is associated with a simpler type of atrioventricular canal when compared with patients with a normal chromosome configuration.
(AJDC. 1990;144:1120-1122)
'"The atrioventricular canal (AVC) is a common congenital heart malforma¬ tion in patients with Down syndrome (DS).1 This cardiac malformation, either isolated or associated with other con¬ genital heart disease, occurs also in pa¬ tients without DS.2,3 A large number of clinical,4,6 anatomic,2'3,6"16 and surgical re¬ ports16"18 have described the cardiac mal-
Accepted for publication April 9,1990. From the Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesu' Hospital and
Research Institute, Rome (Drs Marino, Vairo, Corno, Nava, Guccione, and Marcelletti); and the Department of Pediatric Cardiology, Monaldi Hospital, Naples (Dr Calabr\l=o'\),Italy. Dr Corno is now with San Raffaele Hospital, Milan, Italy. Reprint requests to Dipartimento Medico-Chirurgico di Cardiologia Pediatrica, Ospedale Bambino Gesu', Piazza Sant'Onofrio, 4 00165 Rome, Italy
(Dr Marino).
formations associated with the AVC, but few investigators have correlated the types of these associated anomalies with the presence of DS2"5; we could not discern a complete profile of AVC in patients with DS from a review of pub¬ lished reports. Therefore, we investi¬ gated the differences between patients with and without DS who had AVC. We attempted to classify the structure of the major cardiac malformation and of the associated anomalies. We had previ¬ ously reported similar discrimination for ventricular septal defect.19 The sur¬ gical results for repair of AVC defects has been similarly analyzed.20
SUBJECTS AND METHODS
records, two-dimensional echocardiographic studies, and cardiac cathThe clinical
eterization and angiocardiographic results for 220 patients with AVC were reviewed. Only patients with situs solitus of the atria were considered; patients with atrial isomerism (splenic syndrome) were excluded, and situs inversus was not found in our series. All patients had chromosomal analysis per¬ formed. The definitive cardiac diagnosis was established by a combination of two-dimen¬ sional echocardiographic and angiocardio¬ graphic data using the same method and by the same interpreters (B.M. and U.V.). The diagnoses were confirmed by surgical inspec¬ tion or by autopsy in 208 cases. The basic structure of AVC was classified in two types: partial AVC (ie, ostium primum atrial septal defect with cleft of the anterior leaflet of the mitral valve) and complete AVC (ie, ostium primum atrial septal defect confluent with an inlet ventricular septal defect with common atrioventricular valve).3"8'11 To categorize the associated cardiac anomalies, we analyzed (1) systemic and pulmonary venous connec¬ tions and atrial structure; (2) the atrioven¬ tricular valves and the ventricular septum;
(3) ventricular dominance; (4) systemic and pulmonary outflow tracts and the great ar¬ teries; and (5) the conotruncal structure. The type of AVC (partial or complete) and the associated cardiac anomalies were compared
between the two groups (with or without DS). The retrospective analysis of the cardi¬ ac studies and the classification of the AVC types and of the associated anomalies were performed without knowing the karyotype of the patients. Statistical analysis was per¬ formed by 2 test, and significance was ac¬ cepted at P
Syndrome
Prevalence of Associated Cardiac Malformations With Patients Without Down Syndrome
Compared
Bruno Marino, MD; Ugo Vairo, MD; Antonio Corno, MD; Simonetta Nava, MD; Paolo Guccione, MD; Raffaele Calabr\l=o'\,MD; Carlo Marcelletti, MD \s=b\ The atrioventricular canal is the "classic" congenital heart anomaly in Down syndrome. We may learn more of the nature of this disorder by careful study of the anatomic characteristics of the cardiac lesions and by comparing these lesions in patients with and patients without Down syndrome. We reviewed the clinical characteristics (echocardiographic and angiocardiographic) of 220 patients with atrioventricular canal and compared the prevalence of anatomic types and associated cardiac malformations in children with (105) and without (115) Down syndrome. In patients with Down syndrome, the complete form of atrioventricular canal was prevalent, with a high frequency of associated Fallot's tetralogy. Partial atrioventricular canal and left-sided anomalies were more common in patients without Down syndrome. Down syndrome is associated with a simpler type of atrioventricular canal when compared with patients with a normal chromosome configuration.
(AJDC. 1990;144:1120-1122)
'"The atrioventricular canal (AVC) is a common congenital heart malforma¬ tion in patients with Down syndrome (DS).1 This cardiac malformation, either isolated or associated with other con¬ genital heart disease, occurs also in pa¬ tients without DS.2,3 A large number of clinical,4,6 anatomic,2'3,6"16 and surgical re¬ ports16"18 have described the cardiac mal-
Accepted for publication April 9,1990. From the Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesu' Hospital and
Research Institute, Rome (Drs Marino, Vairo, Corno, Nava, Guccione, and Marcelletti); and the Department of Pediatric Cardiology, Monaldi Hospital, Naples (Dr Calabr\l=o'\),Italy. Dr Corno is now with San Raffaele Hospital, Milan, Italy. Reprint requests to Dipartimento Medico-Chirurgico di Cardiologia Pediatrica, Ospedale Bambino Gesu', Piazza Sant'Onofrio, 4 00165 Rome, Italy
(Dr Marino).
formations associated with the AVC, but few investigators have correlated the types of these associated anomalies with the presence of DS2"5; we could not discern a complete profile of AVC in patients with DS from a review of pub¬ lished reports. Therefore, we investi¬ gated the differences between patients with and without DS who had AVC. We attempted to classify the structure of the major cardiac malformation and of the associated anomalies. We had previ¬ ously reported similar discrimination for ventricular septal defect.19 The sur¬ gical results for repair of AVC defects has been similarly analyzed.20
SUBJECTS AND METHODS
records, two-dimensional echocardiographic studies, and cardiac cathThe clinical
eterization and angiocardiographic results for 220 patients with AVC were reviewed. Only patients with situs solitus of the atria were considered; patients with atrial isomerism (splenic syndrome) were excluded, and situs inversus was not found in our series. All patients had chromosomal analysis per¬ formed. The definitive cardiac diagnosis was established by a combination of two-dimen¬ sional echocardiographic and angiocardio¬ graphic data using the same method and by the same interpreters (B.M. and U.V.). The diagnoses were confirmed by surgical inspec¬ tion or by autopsy in 208 cases. The basic structure of AVC was classified in two types: partial AVC (ie, ostium primum atrial septal defect with cleft of the anterior leaflet of the mitral valve) and complete AVC (ie, ostium primum atrial septal defect confluent with an inlet ventricular septal defect with common atrioventricular valve).3"8'11 To categorize the associated cardiac anomalies, we analyzed (1) systemic and pulmonary venous connec¬ tions and atrial structure; (2) the atrioven¬ tricular valves and the ventricular septum;
(3) ventricular dominance; (4) systemic and pulmonary outflow tracts and the great ar¬ teries; and (5) the conotruncal structure. The type of AVC (partial or complete) and the associated cardiac anomalies were compared
between the two groups (with or without DS). The retrospective analysis of the cardi¬ ac studies and the classification of the AVC types and of the associated anomalies were performed without knowing the karyotype of the patients. Statistical analysis was per¬ formed by 2 test, and significance was ac¬ cepted at P
