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Published on: August 8, 2022
Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first case
Philippe Charron1, Delphine Héron, Marcela Gargiulo
1Département de Génétique, Cytogénétique et Embryologie, Hôpital Pitié-Salpêtrière, Paris, France. pcharron@infobiogen.fr
Insights
This case study details the first prenatal molecular diagnosis for hypertrophic cardiomyopathy (HCM), a genetic heart condition. The test confirmed a known MYH7 gene mutation, offering crucial information for the family.
Area of Science:
- Cardiovascular Genetics
- Medical Genetics
- Prenatal Diagnosis
Background:
- Hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death in young individuals.
- Advances in molecular genetics enable genetic testing for inherited cardiac conditions.
- Prenatal diagnosis for HCM presents complex ethical and clinical challenges due to variable disease expression.
Observation:
- A couple pursued prenatal molecular testing for HCM despite comprehensive genetic counseling.
- A known R403L mutation in the MYH7 gene was identified in the family, associated with a severe form of HCM.
- The decision was made to proceed with prenatal diagnosis based on the family's request.
Findings:
- This report documents the first instance of prenatal molecular diagnosis for hypertrophic cardiomyopathy.
- The MYH7 R403L mutation was confirmed prenatally, providing specific genetic information.
Implications:
- Prenatal diagnosis in HCM offers valuable genetic information but must be balanced against disease variability and predictive difficulties.
- This case highlights the feasibility and ethical considerations of prenatal genetic testing for HCM.
- Future management strategies for families with inherited HCM may benefit from such diagnostic approaches.
Abstract:
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease that may cause premature sudden death, especially in teenagers and young adults. The recent progress in the molecular genetics of the disease has made genetic testing sometimes available in clinical practice. We report the case of a couple who still requested prenatal molecular testing after detailed information had been given through a multidisciplinary consultation. Prenatal diagnosis in HCM is associated with complex medical and psychological implications, in addition to general ethical considerations, as the potential value of the diagnosis is counterbalanced by the highly variable expression of the disease and the difficulty in predicting its evolution. The R403L mutation in the MYH7 gene had been previously identified in this family, characterized by a malignant form of HCM. In the specific context of this case, we decided to agree to the request of the parents and performed the prenatal diagnosis. To the best of our knowledge, this is the first report of a prenatal molecular diagnosis performed in the context of HCM.
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