Hypertrophic cardiomyopathy and planned in vitro fertilization. Genetic testing and clinical evaluation

Herz. 2012 Jun;37(4):447-52. doi: 10.1007/s00059-011-3564-y.

Abstract

Hypertrophic cardiomyopathy (HCM) is often transmitted to the offspring of affected individuals. This case report describes the role of genetic screening in a 39-year-old woman with a family history of sudden cardiac death. The patient wished to become pregnant and was seeking medical consultation. In addition to electro- and echocardiograms, genomic DNA was isolated and direct sequencing was employed to screen the patient for some of the most common genes that cause HCM. A pathogenic heterozygous mutation c.700 g > a p.Arg186Gln in TNNI3 was identified, which was not found in 200 normal control chromosomes. Mutation-specific genetic testing was also performed in four family members, and the same mutation was absent. Genetic screening appears cost effective in familiar members with a known mutation, provides important information about the affected individual, and can facilitate the future management of family members and offspring.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cardiomyopathy, Hypertrophic, Familial / diagnosis*
  • Cardiomyopathy, Hypertrophic, Familial / genetics*
  • Female
  • Fertilization in Vitro*
  • Genetic Counseling*
  • Genetic Predisposition to Disease / genetics*
  • Genetic Predisposition to Disease / prevention & control
  • Genetic Testing*
  • Humans
  • Risk Assessment
  • Young Adult