An Increased Incidence of Total Anomalous Pulmonary Venous Connection among Hispanics in Southern Nevada

Evans, William N.; Acherman, Ruben J.; Ciccolo, Michael L.; Castillo, William; Restrepo, Humberto

doi:10.1111/chd.12199

Cited by 5 publications

(4 citation statements)

References 39 publications

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“…There was no statically significant difference in the overall prevalence of CCHD for Hispanics versus non-Hispanics other than isolated total anomalous pulmonary venous return (TAPVR). Similar to our previous publication, 13 the prevalence of isolated TAPVR was 0.24/1,000 live births in Hispanics versus 0.05/1,000 live birth prevalence in non-Hispanics ( P = .01).…”

Section: Resultssupporting

confidence: 89%

Detecting Critical Congenital Heart Disease in Nevada

Evans

Acherman

Ciccolo

et al. 2019

World J Pediatr Congenit Heart Surg

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Background: We reviewed data on patients born with critical congenital heart disease in the state of Nevada and analyzed detection via prenatal diagnosis versus newborn pulse oximetry screening, location of birth, and gestational age at birth. Methods: We inquired our databases and electronic health records for all patients with critical congenital heart disease born in Nevada between January 2016 and May 2019. Results: We identified 218 live born patients. Of the 218, average gestational age was 38 weeks (±2.2 weeks). Of the 218, 171 (78%) were prenatally diagnosed, 37 (17%) were diagnosed by immediate postnatal signs and symptoms, 8 (4%) had false-negative pulse oximetry screens that resulted in post-hospital discharge presentations, and 2 (1%) had positive pulse oximetry screens. The eight post-hospital discharge presentations included four in extremis, two with extreme cyanosis, and two dying at home. Of the 171 prenatally diagnosed patients, 157 (92%) were born at the Nevada hospital with the congenital cardiac unit. Conclusion: To the best of our knowledge, our results represent the highest statewide, general population prenatal detection of critical congenital heart disease in the United States. Our high prenatal detection rate led to the majority of patients being born at the Nevada facility with the congenital heart unit, limiting intrastate neonatal transports. On average, patients were born at term. Further, in Nevada, state-mandated, universal pulse oximetry screening resulted in more false-negative results than positive results

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Section: Resultssupporting

confidence: 89%

Detecting Critical Congenital Heart Disease in Nevada

Evans

Acherman

Ciccolo

et al. 2019

World J Pediatr Congenit Heart Surg

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“…1,2 Patients with scimitar syndrome and multiple congenital anomalies can be challenging to manage due to their multiple organ system pathologies.Although some forms of CHD have been linked to various genetic syndromes, the mechanisms that contribute to scimitar syndrome remains elusive. [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.…”

mentioning

confidence: 99%

“…[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. We also use the results of clinically based genetic testing to identify genes and pathways whose alteration may lead to scimitar syndrome development.…”

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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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“…The most frequent type of CHD described in the literature is ventricular septal defects (Table 1). However, TACVP is one of the most common complex forms of CHD in the Mexican population (Evans et al, 2015); therefore, we cannot rule out a potential predisposition to this type of CHD due to the patient's ethnicity. We propose that patients with these clinical characteristics, including TACVP, and family history consistent with an X-linked inheritance pattern, should be evaluated for GBBB.…”

Section: Discussionmentioning

confidence: 94%

Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant

Perea‐Cabrera,

Granados‐Riveron,

Segura‐Stanford

et al. 2023

Molec Gen & Gen Med

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BackgroundOpitz GBBB syndrome (GBBB) is an X‐linked disease characterized by midline defects, including congenital heart defects. We present our diagnostic approach to the identification of GBBB in a consanguineous family in which two males siblings were concordant for a total anomalous connection of pulmonary veins and minor facial dysmorphias.MethodsTargeted exome sequencing analysis of a 380‐gene panel associated with cardiovascular disease was performed on the propositus. Interpretative analysis of the exome results was conducted, and 3D models of the protein changes were generated.ResultsWe identified a NM_000381.4:c.608G>A;p.(Arg203Gln) change in MID1, affecting the conformation of the B‐box 2 domain of the protein, with a zinc finger structure and associated protein interactions. This clinical phenotype is consistent with GBBB; however, the type of congenital heart disease observed in this case has not been previously reported.ConclusionA new likely pathogenic variant on MID1 c.608G>A was found to be associated with Opitz GBBB syndrome.

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An Increased Incidence of Total Anomalous Pulmonary Venous Connection among Hispanics in Southern Nevada

Abstract: We found a significantly higher incidence of isolated total anomalous pulmonary venous connection in Hispanics vs. non-Hispanics.

Cited by 5 publications

References 39 publications

Detecting Critical Congenital Heart Disease in Nevada

Detecting Critical Congenital Heart Disease in Nevada

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

Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant

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