Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first case

Prenatal Diagnosis
Philippe CharronM Komajda

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.

Citations

Sep 9, 2010·European Heart Journal·Philippe CharronUNKNOWN European Society of Cardiology Working Group on Myocardial and Pericardial Diseases
Jul 20, 2011·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Jodie InglesChristopher Semsarian
Nov 28, 2009·Pathologie-biologie·P RichardB Hainque
Jan 31, 2015·Cardiovascular Research·Carolyn Y HoYigal Pinto
Dec 4, 2016·Lancet·Josef VeselkaPhilippe Charron
Feb 16, 2005·Current Opinion in Cardiology·Anji T Yetman, Brian W McCrindle
Dec 20, 2005·Expert Review of Molecular Diagnostics·Philippe Charron, Michel Komajda
Apr 14, 2005·Prenatal Diagnosis
Aug 21, 2021·Circulation. Genomic and Precision Medicine·Andrew P LandstromUNKNOWN American Heart Association Council on Genomic and Precision Medicine; Council on Lifelong Congenital Heart Disease and Heart

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