Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects.
To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening.



We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major.



Of 129 patients with CARM, 67% had mild CARM, 33% severe CARM, and 17% were additionally diagnosed with CHD. CHDs were distributed equally in patients with mild or severe CARMs. Patients with multiple congenital abnormalities were more frequently diagnosed with CHD (n = 16, 36%) than patients without multiple congenital malformations (n = 5, 9%, P = .001). Patients with CARM diagnosed with CHD using pediatric cardiac echo screening were younger than 3 months of age at diagnosis. Earlier general pediatric examinations missed 7 (50%) children with mild and 4 (50%) with severe CHDs.



The severity of CARM could predict neither prevalence nor severity of CHD. More than one-half of CHDs were missed during the first physical examination. No new CHDs were found in patients older than 3 months of age at the time CARMs were diagnosed. We recommend screening all patients with CARM younger than 3 months of age for CHD at the time CARM is diagnosed. Preoperative echocardiography should be the rule in children younger than 3 months of age and with multiple congenital anomalies.
Department of Surgery, Division of Pediatric Surgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Jara E
JE
Jonker
Department of Pediatrics, Division of Pediatric Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Eryn T
ET
Liem
Department of Pediatrics, Division of Pediatric Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Nynke J
NJ
Elzenga
Department of Anesthesiology, Division of Pediatric Anesthesiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Bouwe
B
Molenbuur
Department of Surgery, Anorectal Physiology Laboratory, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Monika
M
Trzpis
Department of Surgery, Division of Pediatric Surgery, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands; Department of Surgery, Anorectal Physiology Laboratory, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. Electronic address: p.m.a.broens@umcg.nl.
Paul M A
PM
Broens
D000015:Abnormalities, Multiple / Q000453:epidemiology*; D000071056:Anorectal Malformations / Q000150:complications* / Q000453:epidemiology*; D002675:Child, Preschool; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications* / Q000453:epidemiology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015995:Prevalence; D012189:Retrospective Studies; D012720:Severity of Illness Index
anal atresia; anorectal malformation; congenital heart disease