Article
A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities.
International journal of molecular sciences - 10 Jul 2024
Bukaeva Anna, Myasnikov Roman, Kulikova Olga, Meshkov Alexey, Kiseleva Anna, Petukhova Anna, Zotova Evgenia, Sparber Peter, Ershova Alexandra, Sotnikova Evgeniia, Kudryavtseva Maria, Zharikova Anastasia, Koretskiy Sergey, Mershina Elena, Ramensky Vasily, Zaicenoka Marija, Vyatkin Yuri, Muraveva Alisa, Abisheva Alexandra, Nikityuk Tatiana, Sinitsyn Valentin, Divashuk Mikhail, Dadali Elena, Pokrovskaya Maria, Drapkina Oxana
Abstract excerpt
A genetic diagnosis of primary cardiomyopathies can be a long-unmet need in patients with complex phenotypes. We investigated a three-generation family with cardiomyopathy and various extracardiac abnormalities that had long sought a precise diagnosis. The 41-year-old proband had hypertrophic cardiomyopathy (HCM), left ventricular noncompaction, myocardial fibrosis, arrhythmias, and a short stature. His sister...
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