Imperforate anus associated with anomalous pulmonary venous return in scimitar syndrome. Case report from a tertiary hospital in Ethiopia

Aklilu, Tamirat Moges; Adhana, Messele Chanie; Aboye, Azmeraw Gissila

doi:10.1186/s12887-019-1643-z

Cited by 6 publications

(4 citation statements)

References 10 publications

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“…[3][4][5][6][7][8][9] Studies have demonstrated an association between scimitar syndrome and extracardiac anomalies including congenital diaphragmatic hernia, imperforate anus, and variants of VACTERL association. [10][11][12][13][14] Although pathogenic variants in specific genes can clearly cause CHDs, the genetic factors contributing to most cases of scimitar syndrome remain unidentified. [3][4][5][6][7][8][9] In this study, we sought to determine the frequency and efficacy of genetic testing in patients with scimitar syndrome from a single institution.…”

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confidence: 99%

The frequency and efficacy of genetic testing in individuals with scimitar syndrome

et al. 2021

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Background: Scimitar syndrome is a rare CHD composed of partial anomalous pulmonary venous connection from the right lung, via a scimitar vein, to the inferior vena cava rather than the left atrium. Genetic conditions associated with scimitar syndrome have not been well investigated at present. Methods: Our study included patients with scimitar syndrome diagnosed at Texas Children’s Hospital from January 1987 to July 2020. Medical records were evaluated to determine if genetic testing was performed, including chromosomal microarray analysis or whole-exome sequencing. Copy number variants identified as pathogenic/likely pathogenic and variants of unknown significance were collected. Analyses of cardiac and extracardiac findings were performed via chart review. Results: Ninety-eight patients were identified with scimitar syndrome, 89 of which met inclusion criteria. A chromosome analysis or chromosomal microarray analysis was performed in 18 patients (20%). Whole-exome sequencing was performed in six patients following negative chromosomal microarray analysis testing. A molecular genetic diagnosis was made in 7 of 18 cases (39% of those tested). Ninety-six per cent of the cohort had some type of extracardiac finding, with 43% having asthma and 20% having a gastrointestinal pathology. Of the seven patients with positive genetic testing, all had extracardiac anomalies with all but one having gastrointestinal findings and 30% having congenital diaphragmatic hernia. Conclusions: Genetic testing revealed an underlying diagnosis in roughly 40% of those tested. Given the relatively high prevalence of pathogenic variants, we recommend chromosomal microarray analysis and whole-exome sequencing for patients with scimitar syndrome and extracardiac defects.

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confidence: 99%

The frequency and efficacy of genetic testing in individuals with scimitar syndrome

et al. 2021

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“…However, other unusual presentations like congenital hydrocephalus, heart block, and imperforate anus associated with infantile scimitar have been reported in the literature. 15, 16…”

Section: Discussionmentioning

confidence: 99%

Congenital Pulmonary Venolobar Syndrome: Neurodevelopmental Follow-up

Abuzaid

James

Amer³

et al. 2021

Indian Journal of Clinical Cardiology

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Congenital pulmonary venolobar syndrome or infantile scimitar syndrome is a rare congenital cardiopulmonary anomaly and has variable presentation, especially in the neonatal period. It is characterized by partial or total anomalous pulmonary venous return from the right lung along with pulmonary hypoplasia. The infantile form is associated with significant mortality and has a worse prognosis due to severe respiratory insufficiency, cardiac failure, and pulmonary infections. We report an infantile scimitar syndrome diagnosed within few hours of life, which has been followed up for 4 years for the presence of intact survival and without neurodevelopmental disorder in the domains of motor, cognition, communication, personal-social, vision, and hearing.

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“…Embolization of the aortopulmonary collaterals can also be done by detachable coils [11]. During our literature search, we came across other case reports of scimitar syndrome associated with other congenital defects such as VACTERL, H-type tracheoesophageal fistula [5,12], and imperforated anus [13]. We also came across case reports showing features of failure to thrive due to recurrent chest infections, leading to immediate repair of the defect.…”

Section: Discussionmentioning

confidence: 99%

Scimitar syndrome – Uncommon variant with common presentation

Dave¹,

Parikh²,

Vasoya³

2020

IJCR

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S cimitar syndrome is a complex association of cardiovascular and bronchopulmonary abnormalities, with the main feature of partial or total anomalous pulmonary venous drainage of the right lung to the systemic circulation [1]. It is characterized by partial anomalous pulmonary venous drainage of the right lung causing left-to-right shunt along with the right lung hypoplasia, dextraposition of the heart [2], and pulmonary hypertension due to aortopulmonary collaterals [3]. When visualized on imaging, it resembles a backsword with a curved blade, also known as scimitar in Middle East [4]. In infants, it can present as recurrent lung infection and can develop complications such as pulmonary arterial hypertension and congestive cardiac failure [5], while in adults, it usually remains asymptomatic [6]. It can be associated with other congenital heart defects such as single ventricular defect causing congestive cardiac failure [7] or atrial septal defects [8]. The surgical treatment includes rightsided pneumonectomy [9] or, a tunnel connecting the scimitar vein, and the left atrium can be made by Dacron graft through intra-atrial baffle technique [10]. CASE REPORT A 9-month-old male baby presented to the pediatric outpatient clinic with complaints of fever with cough, cold, and decreased oral intake for 5 days. His vitals demonstrated low-grade fever of 98.2°F with a pulse rate of 110/min, and respiratory rate of 36/ min. On physical examination, he looked pale and crepitations were heard over his chest. Therefore, he was admitted and commenced on IV antibiotics and nebulization. The laboratory findings showed anemia (6.70 g/dl), leukocytosis with counts of 13,200/mm 3 , and elevated C-reactive protein (CRP) levels of 23.40 mg/dl. The chest X-ray showed diffuse changes of bronchitis. His further laboratory investigations are mentioned in Table 1. His clinical condition improved over a period of time and there was a decrease in the count and CRP levels. His oral intake also improved gradually and thus was discharged after 3 days with the prescription of oral antibiotics. Following this, he had four bouts of respiratory tract infections with similar complaints and was treated on an outpatient basis. He underwent a 32 slice computed tomography (CT) scan with IV contrast which demonstrated non-visualization of the right main pulmonary artery and smaller right lung. The 2D echocardiography confirmed the hypoplastic right pulmonary artery with a small left-to-right patent ductus arteriosus shunt. The aortopulmonary collaterals were noted supplying to the right lung in the absence of the right pulmonary artery. These findings were in accordance with the scimitar syndrome variant with preferential blood flow to the left lung causing mild pulmonary artery hypertension.

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Imperforate anus associated with anomalous pulmonary venous return in scimitar syndrome. Case report from a tertiary hospital in Ethiopia

Cited by 6 publications

References 10 publications

The frequency and efficacy of genetic testing in individuals with scimitar syndrome

The frequency and efficacy of genetic testing in individuals with scimitar syndrome

Congenital Pulmonary Venolobar Syndrome: Neurodevelopmental Follow-up

Scimitar syndrome – Uncommon variant with common presentation

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