Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY Birth Defects Research Pub Date : 2024-07-08 DOI:10.1002/bdr2.2382

Carolina Putotto, Marco Masci, Monia Magliozzi, Antonio Novelli, Bruno Marino, Maria Cristina Digilio, Alessandra Toscano

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Abstract

Background

A peculiar subgroup of patients with partial or complete atrioventricular canal defect exhibits a spectrum of left-sided obstructions including right ventricular dominance and aortic coarctation. The association of atrioventricular canal defect with left-sided obstructions is found in several genetic syndromes; however, the molecular basis of nonsyndromic atrioventricular canal defect with aortic coarctation is still poorly understood. Although some candidate genes for nonsyndromic atrioventricular canal defect are known, a complex oligogenic inheritance determined in some cases by the co-occurrence of multiple variants has also been hypothesized.

Case Report

We describe a nonsyndromic infant with mesocardia with viscero-atrial situs solitus, partial atrioventricular canal defect, mild right ventricular dominance, and coarctation of the aorta. Next generation sequencing genetic testing revealed variants in two genes, GDF1 and NOTCH1, previously reported in association with atrioventricular canal defect and left-sided obstructive lesions, respectively.

Conclusion

The present report could support the hypothesis that the co-occurrence of cumulative variants may be considered as genetic predisposing risk factor for specific congenital heart defects.

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与GDF1和NOTCH1基因变异相关的部分房室管缺损和主动脉闭锁：病例报告。

背景：部分或完全性房室管缺损患者中的一个特殊亚群表现出一系列左侧梗阻，包括右室优势和主动脉瓣闭锁。房室管缺损与左侧梗阻的关联在几种遗传综合征中都有发现；然而，非综合征性房室管缺损伴主动脉瓣闭锁的分子基础仍不甚明了。虽然非综合征房室管缺损的一些候选基因已经知道，但也有人假设在某些病例中，多种变异基因的共同出现决定了复杂的寡基因遗传：病例报告：我们描述了一名非综合征婴儿，他患有间质性心肌炎伴内脏-心房坐位、部分房室管缺损、轻度右室优势和主动脉共动脉症。下一代测序基因检测发现了两个基因的变异，即GDF1和NOTCH1，以前曾有报道称这两个基因分别与房室管缺损和左侧梗阻性病变有关：本报告支持这样的假设，即累积变异的共同出现可被视为特定先天性心脏缺陷的遗传易感风险因素。

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来源期刊

Birth Defects Research Medicine-Embryology

CiteScore

3.60

自引率

9.50%

发文量

153

期刊介绍： The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.