Congenital heart defects genetic architecture in a small cohort: an integrated approach to prioritizing variants - Takeaways - MDSpire

Congenital heart defects genetic architecture in a small cohort: an integrated approach to prioritizing variants

  • By

  • Anna V. Korobeinikova

  • Ekaterina S. Petriaikina

  • Dmitry I. Tychinin

  • Vladimir S. Yudin

  • Naida I. Bulaeva

  • Sayaly M. Gyulmamedova

  • Georgy A. Khugaev

  • Tatiana V. Sukhacheva

  • Ekaterina A. Snigir

  • Sergey I. Mitrofanov

  • Antonina M. Rumyantseva

  • Dmitry V. Svetlichnyy

  • Sergey M. Yudin

  • Elena Z. Golukhova

  • Veronika I. Skvortsova

  • July 6, 2026

  • 0 min

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  • 1

    Congenital heart defects (CHD) are common structural anomalies affecting about 1% of newborns and are significant causes of infant morbidity and mortality.

  • 2

    Whole-genome sequencing of 50 patients with CHD revealed novel genetic variants and associations specific to different CHD subtypes.

  • 3

    The study identified specific genetic associations, including JARID2 with patent ductus arteriosus and CREBBP with atrioventricular septal defects.

  • 4

    Current genomic annotation databases have limited capacity to discriminate genetic risks for CHD, necessitating subtype-specific assessments.

  • 5

    The findings highlight the polygenic nature of CHD and the need for larger cohorts to enhance understanding and clinical application of genetic insights.

Original Source(s)

Congenital heart defects genetic architecture in a small cohort: an integrated approach to prioritizing variants

  • by Anna V. Korobeinikova, Ekaterina S. Petriaikina, Dmitry I. Tychinin, Vladimir S. Yudin, Naida I. Bulaeva, Sayaly M. Gyulmamedova, Georgy A. Khugaev, Tatiana V. Sukhacheva, Ekaterina A. Snigir, Sergey I. Mitrofanov, Antonina M. Rumyantseva, Dmitry V. Svetlichnyy, Sergey M. Yudin, Elena Z. Golukhova, Veronika I. Skvortsova

  • July 6, 2026

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