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HGG Adv. 2021 Jul 08;2(3). doi: 10.1016/j.xhgg.2021.100037. Epub 2021 Jul 29.

Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease.

HGG advances

Polakit Teekakirikul, Wenjuan Zhu, George C Gabriel, Cullen B Young, Kylia Williams, Lisa J Martin, Jennifer C Hill, Tara Richards, Marie Billaud, Julie A Phillippi, Jianbin Wang, Yijen Wu, Tuantuan Tan, William Devine, Jiuann-Huey Lin, Abha S Bais, Jonathan Klonowski, Anne Moreau de Bellaing, Ankur Saini, Michael X Wang, Leonid Emerel, Nathan Salamacha, Samuel K Wyman, Carrie Lee, Hung Sing Li, Anastasia Miron, Jingyu Zhang, Jianhua Xing, Dennis M McNamara, Erik Fung, Paul Kirshbom, William Mahle, Lazaros K Kochilas, Yihua He, Vidu Garg, Peter White, Kim L McBride, D Woodrow Benson, Thomas G Gleason, Seema Mital, Cecilia W Lo

Affiliations

  1. Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
  2. Centre for Cardiovascular Genomics and Medicine, Division of Cardiology, and Division of Medical Sciences, Department of Medicine and Therapeutics, Chinese University of Hong Kong, Hong Kong SAR, China.
  3. Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, University of Cincinnati School of Medicine, Cincinnati, OH, USA.
  4. Department of Cardiothoracic Surgery and Department of Bioengineering, McGowan Institute for Regenerative Medicine, and Center for Vascular Remodeling and Regeneration, University of Pittsburgh, Pittsburgh, PA, USA.
  5. School of Life Sciences, Tsinghua University, Beijing, China.
  6. Department of Critical Care Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
  7. Department of Pediatric Cardiology, Necker-Sick Children Hospital and University of Paris Descartes, Paris, France.
  8. Division of Cardiology, Labatt Family Heart Centre, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
  9. Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
  10. Heart and Vascular Institute, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
  11. Laboratory for Heart Failure and Circulation Research, Li Ka Shing Institute of Health Sciences, Prince of Wales Hospital, CARE Programme, Lui Che Woo Institute of Innovative Medicine, and Gerald Choa Cardiac Research Centre, Chinese University of Hong Kong, Hong Kong SAR, China.
  12. Sanger Heart & Vascular Institute, Charlotte, NC, USA.
  13. Department of Pediatrics, Emory University School of Medicine and Children's Healthcare of Atlanta, Atlanta, GA, USA.
  14. Department of Ultrasound, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
  15. Center for Cardiovascular Research, The Heart Center, Nationwide Children's Hospital and Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.
  16. The Institute for Genomic Medicine, Center for Cardiovascular Research, Nationwide Children's Hospital and Department of Pediatrics, Ohio State University College of Medicine, Columbus, OH, USA.
  17. Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
  18. Division of Cardiac Surgery, Department of Surgery, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

PMID: 34888534 PMCID: PMC8653519 DOI: 10.1016/j.xhgg.2021.100037

Abstract

Bicuspid aortic valve (BAV) with ~1%-2% prevalence is the most common congenital heart defect (CHD). It frequently results in valve disease and aorta dilation and is a major cause of adult cardiac surgery. BAV is genetically linked to rare left-heart obstructions (left ventricular outflow tract obstructions [LVOTOs]), including hypoplastic left heart syndrome (HLHS) and coarctation of the aorta (CoA). Mouse and human studies indicate LVOTO is genetically heterogeneous with a complex genetic etiology. Homozygous mutation in the

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