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Cardiac Care for Female Carriers of Duchenne

#apaperaday special: Cardiac Care for Female Carriers of Duchenne

Today’s pick in #apaperaday “Women and Duchenne” special is a letter to the editor by Wang et al in the journal of cardiac failure. 10.1016/j.cardfail.2022.03.359 The letter is short but makes an important point. It reflects on an earlier publication in the journal on the importance of cardiac care and monitoring for Duchenne patients.

A Parallel Need for Cardiovascular Care for Female Carriers of Duchenne and Becker Muscular Dystrophy

Authors here stress to ALSO include female carriers in the monitoring practice. 2/3 mothers with a Duchenne son will be a carrier. Carriers of the dystrophin mutation have 7-16% chance of developing dilated cardiomyopathy. Research has shown that up to 48% of female carriers have fibrosis in their hearts.

Guidelines prescribe checking for heart function in carriers starting in adulthood. This involves a physical examination, ECG and imaging every 3-5 years and more frequent if results dictated this.

Authors stress however that this does not happen in reality. In their institute (Penn Medicine Center) they have now launched a dedicated clinic to focus on long term care and monitoring of female carriers.

As the #WDAD2022 theme is Women and Duchenne, I thought it was important to stress this point. Two out of three mothers with a son with Duchenne is at risk of developing dilated cardiomyopathy. Once this is identified, action can be taken (intervention with drugs and careful monitoring).