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Publications

Case Reports Journal Article Epublish

PubMed: 36890431 DOI: 10.1186/s12872-023-03169-z

Prenatal diagnosis of recurrent hypoplastic left heart syndrome associated with MYH6 variants: a case report.

BMC Cardiovasc Disord 23(1):116

Authors: B Najib, T Quibel, A Tessier, J Mortreux, P Bouvagnet, C Cohen, F Vialard, R Dard

Affiliations

  • Department of Obstetrics and Gynecology, Saint Joseph University, Beirut, 0000, Lebanon.
  • Department of Obstetrics and Antenatal Fetal Medicine, Centre Hospitalier Intercommunal de Poissy-Saint-Germain-en-Laye, 78300, Poissy, France.
  • Department of Genetics, Centre Hospitalier Intercommunal de Poissy-Saint-Germain-en-Laye, 78300, Poissy, France.
  • Service de Génétique, Laboratoire Eurofins Biomnis, 69007, Lyon, France.
  • RHuMA, UMR-BREED, INRA-ENVA-UVSQ, 78180, Montigny Le Bretonneux, France.
  • Department of Genetics, Centre Hospitalier Intercommunal de Poissy-Saint-Germain-en-Laye, 78300, Poissy, France.
  • RHuMA, UMR-BREED, INRA-ENVA-UVSQ, 78180, Montigny Le Bretonneux, France.

Abstract

BACKGROUND

Hypoplastic left heart syndrome (HLHS) is a rare but genetically complex and clinically and anatomically severe form of congenital heart disease (CHD).

CASE PRESENTATION

Here, we report on the use of rapid prenatal whole-exome sequencing for the prenatal diagnosis of a severe case of neonatal recurrent HLHS caused by heterozygous compound variants in the MYH6 gene inherited from the (healthy) parents. MYH6 is known to be highly polymorphic; a large number of rare and common variants have variable effects on protein levels. We postulated that two hypomorphic variants led to severe CHD when associated in trans; this was consistent with the autosomal recessive pattern of inheritance. In the literature, dominant transmission of MYH6-related CHD is more frequent and is probably linked to synergistic heterozygosity or the specific combination of a single, pathogenic variant with common MYH6 variants.

CONCLUSIONS

The present report illustrates the major contribution of whole-exome sequencing (WES) in the characterization of an unusually recurrent fetal disorder and considered the role of WES in the prenatal diagnosis of disorders that do not usually have a genetic etiology.

MeSH

Prenatal Diagnosis, Hypoplastic Left Heart Syndrome, Cardiovascular Diseases, Genes, Exome