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Hypertrophic cardiomyopathy and planned in vitro fertilization

Genetic testing and clinical evaluation

Hypertrophe Kardiomyopathie und geplante In-vitro-Fertilisation

Genetische Untersuchung und klinische Evaluierung

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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.

Zusammenfassung

Die hypertrophe Kardiomyopathie (HCM) wird oft an Nachkommen der Betroffenen weitergegeben. Anhand einer Kasuistik wird die Rolle des genetischen Screening erläutert. Eine 39-Jährige mit plötzlichem Herztod in der Familienanamnese hatte bei Kinderwunsch medizinischen Rat gesucht. Sie wurde elektro- und echokardiographisch untersucht, zusätzlich wurde genomische DNA isoliert und der direkten Sequenzierung zugeführt. So erfolgte ein Screening für etliche der häufigsten HCM-assoziierten Gene. Identifiziert wurde dabei eine pathogene heterozyote Mutation, c.700 g > a p.Arg186Gln in TNNI3, die in 200 Kontrollchromosomen nicht nachgewiesen worden war. Ferner wurde eine mutationsspezifische Untersuchung bei vier Familienmitgliedern durchgeführt, die entsprechende Mutation lag nicht vor. Ein genetisches Screening von Familienmitgliedern scheint bei bekannter Mutation kosteneffektiv zu sein, es bietet Informationen zum Betroffenen und kann das weitere Management der Familie und ihrer Nachkommen ermöglichen.

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Acknowledgements

This work was supported in part by the National Basic Research Program of China [973 Program: 2007CB512002 and 2008CB517305], the National Natural Science Foundation of China [30760076 and 81070148], and the Jiangxi Scientific Foundation [2007BS02346]. The authors would like to thank Dr. AJ Marian (Center for Cardiovascular Genetics, University of Texas Health Science Center, TX, USA) for his useful comments on this manuscript and his helpful suggestions to improve this article.

Conflict of interest

The corresponding author states that there are no conflicts of interest.

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Authors and Affiliations

  1. The Cardiology Department, The Second Affiliated Hospital of NanChang University, Jiangxi 330006, Jiangxi, China

    J. Zhu Hu, J. Xiang Li,  K. Hong & J. Xin Hu

  2. Heart Rhythm Management Center, UZ Brussel-VUB, Brussels, Belgium

    P. Brugada & X. Shu Cheng

  3. Cardiovascular Genetics Center, UdG-IdIBGi, University of Girona, Girona, Spain

    J. Zhu Hu, J. Xiang Li & R. Brugada

Authors
  1. J. Zhu Hu
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  2. J. Xiang Li
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  3. K. Hong
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  4. J. Xin Hu
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  5. P. Brugada
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  6. X. Shu Cheng
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  7. R. Brugada
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Corresponding author

Correspondence to K. Hong.

Additional information

Co-first authors: the first two authors contributed equally to the paper.

Authors’ contributions

JZH carried out the molecular genetic studies and participated in the sequence alignment; JXL collected patients’ samples and made the diagnosis; KH designed the experimental protocol, analysis of sequences and drafted the manuscript; JXH performed the clinical study, including angiography and ICD implantation; PB helped draft the manuscript and discussion for results; XSC performed the clinical diagnosis and coordination; RB participated in the design and helped draft the manuscript.

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Zhu Hu, J., Xiang Li, J., Hong, K. et al. Hypertrophic cardiomyopathy and planned in vitro fertilization. Herz 37, 447–452 (2012). https://doi.org/10.1007/s00059-011-3564-y

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  • DOI: https://doi.org/10.1007/s00059-011-3564-y

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