Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects

Jonker, Jara E.; Liem, Eryn T.; Elzenga, Nynke J.; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M. A.

doi:10.1016/j.jpeds.2016.08.047

Cited by 12 publications

(5 citation statements)

References 15 publications

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“…This prevalence of congenital heart disease did not differ between the mild and the severe forms of CARM. 10 In a normal population, the prevalence of congenital heart disease is 0.8%. 11 Thus, in this study these patients are correctly diagnosed with CARMs.…”

Section: Discussionmentioning

confidence: 99%

Underdiagnosis of Mild Congenital Anorectal Malformations

Jonker

Trzpis

Broens

2017

The Journal of Pediatrics

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Section: Discussionmentioning

confidence: 99%

Underdiagnosis of Mild Congenital Anorectal Malformations

Jonker

Trzpis

Broens

2017

The Journal of Pediatrics

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“…47 Congenital heart disease is present in 17% of patients with cloaca, similar to the rate observed in the other types of ARMs. 48 The most frequent defects are ventricular septal defects, atrial septal defects, restrictive patent ductus arteriosus, and persistent foramen ovale. A small percentage of patients might present with more complex cardiopathies such as tetralogy of Fallot or primary pulmonary hypertension.…”

Section: Cardiac Anomaliesmentioning

confidence: 99%

“…A small percentage of patients might present with more complex cardiopathies such as tetralogy of Fallot or primary pulmonary hypertension. 48 For women with cardiac anomalies, individualized preconception counseling and pregnancy planning should be a vital component of their medical management, particularly if the heart defect is present in a patient with cloaca. Women with simple congenital heart defects generally tolerate pregnancy well.…”

Section: Cardiac Anomaliesmentioning

confidence: 99%

Obstetrical Outcomes in Adult Patients Born with Complex Anorectal Malformations and Cloacal Anomalies: A Literature Review

Vilanova-Sánchez

McCracken

Halleran

et al. 2019

Journal of Pediatric and Adolescent Gynecology

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a b s t r a c tPatients born with complex anorectal malformations often have associated M€ ullerian anomalies, which might affect fertility and obstetrical outcomes. Other vertebral-anorectal-tracheoesophageal-renal-limb associations, such as renal or cardiac anomalies, could also affect pregnancy intention, fertility rates, and recommendations about mode of delivery or obstetrical outcomes. Associated conditions present at birth, like hydrocolpos, could also potentially affect fertility. Depending on the complexity of the anomaly, primary reconstruction might include vaginoplasty, vaginal interposition, perineal body reconstruction, and extensive pelvic dissection. After the initial reconstruction, patients might have multiple additional surgeries for stoma reversal, bladder augmentation, and creation of conduits, all with potential for pelvic adhesions. Pregnancy intention, fertility rates, mode of delivery, and obstetrical outcomes data are limited in this patient population, making it challenging to counsel patients and their families. We sought to evaluate all available literature in an attempt to better counsel families. A PubMed literature search was undertaken to review this topic. Search terms of "cloaca," "anorectal malformation," "pregnancy," "cloacal exstrophy," "vaginal delivery," and "cesarean section" were used and citation lists from all identified articles were checked to ensure that all possible articles were included in the review. We also outline comorbidities from the fetal period to adulthood that might affect reproductive health. Of the articles on anorectal and cloacal anomalies, 13 reports were identified that covered obstetrical outcomes. They were in patients with previous anorectal malformation, cloaca, and cloacal exstrophy repair. Twenty-four pregnancies were reported in 16 patients. Two ectopic pregnancies, 5 spontaneous miscarriages, 1 triplet pregnancy, and 16 singleton pregnancies were reported with a total of 19 live births. Regarding the method of conception, 15/18 pregnancies occurred spontaneously and 3/18 were via assisted reproductive technology with in vitro fertilization. There were 19 live births, of which at least 8 were preterm. M€ ullerian anatomy was reported in 8 of 13 articles. Only 2 patients underwent vaginal delivery (1 patient with repaired cloaca malformation had an operative vaginal delivery and 1 patient with repaired imperforate anus with rectovaginal fistula had a normal spontaneous vaginal delivery). The remaining patients all underwent a cesarean section. There were no reported cases of maternal mortality, and maternal morbidity was limited to recurrent urinary tract infections and worsening chronic kidney disease. There is a paucity of information regarding obstetrical outcomes in adult anorectal and cloaca patients. However, patients with previous cloacal repairs have achieved pregnancy spontaneously, as well as with in vitro fertilization. Patients with repaired cloacal malformations are at increased risk of preterm birth and cesarean delivery. Most p...

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“…In addition to Down syndrome and VACTERL, ARM is also known to be associated with congenital heart disease (CHD). However, the reported prevalence of CHD among ARM patients is highly variable, ranging from as low as 9% to as high as 50% (4)(5)(6)(7)(8)(9)(10)(11)(12). Furthermore, there is a con icting report on the most common cardiac lesion in ARM patients, with ventricular septal defect (8, 13), atrial septal defect (4,12), and tetralogy of Fallot (6) described as frequent lesions.…”

Section: Introductionmentioning

confidence: 99%

Survival and factors associated with mortality among infants with anorectal malformation: a population-based study from a middle-income country

Mat Bah,

Zahari,

Kasim

et al. 2023

Eur J Pediatr

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Limited data on the survival of anorectal malformation (ARM) patients from lower-and-middle income countries is available. This retrospective population-based study from the State of Johor, Malaysia, determines the incidence, mortality rate, and survival of ARM patients and factors associated with mortality. Kaplan-Meier survival analysis was used to estimate the survival of ARM patients at 1-, 5-and 10-years. In addition, multivariate cox-regression analysis was used to analyze mortality-related factors. There were 175 ARM patients among 803850 live births, giving an overall ARM incidence of 2.2 (95% con dence interval [CI], 1.9 to 2.5) per 10,000 live births. The male-to-female ratio was 1.5: 1. There was 122 (69%) non-isolated ARM, of which 41 were Down syndrome and 34 had VACTERL. Seventy-three (41.7%) had CHD, with 38 severe and 35 non-severe CHD. Overall, 33 (18.9%) patients died, with a median age of death of 5.7 months (Interquartile range 25 days to 11.2 months). The overall estimated 1-, 5-and 10-year survival rate for ARM patients was 82.3% (95% CI, 76.0% -88.6%), 77.3% (95% CI, 70.4% -84.2%), and 77.3% (95% CI, 70.4%-84.2%), respectively. Univariate analysis shows that non-isolated ARM, VACTREL association, and severe CHD were associated with mortality. However, only severe CHD is the independent factor associated with mortality, with a hazard ratio of 4.03 (95% CI: 1.93-8.42). Conclusion: CHD is common among ARM patients, and one in ve ARM patients had a severe cardiac defect, signi cantly affecting their survival. What Is KnownVACTREL association and congenital heart disease is common in patient with anorectal malformation Low birth weight and prematurity are associated with a lower rate of survival What is new: Congenital heart disease is common in ARM patients in a middle-income country Severe congenital heart disease plays a signi cant role in the survival of patients with an anorectal malformation in lower-and middle-income countries.

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Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects

Cited by 12 publications

References 15 publications

Underdiagnosis of Mild Congenital Anorectal Malformations

Underdiagnosis of Mild Congenital Anorectal Malformations

Obstetrical Outcomes in Adult Patients Born with Complex Anorectal Malformations and Cloacal Anomalies: A Literature Review

Survival and factors associated with mortality among infants with anorectal malformation: a population-based study from a middle-income country

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