Article
The molecular landscape of hypertrophic cardiomyopathy across disease stages and genotypes.
Science translational medicine - 16 Sept 2026
Adami Eleonora, Kim Yuri, Zheng Sean L, Shvetsov Nikolay, Losert Corinna, Maatz Henrike, Barish Syndi, Venturini Gabriela, Anguita Natalia López, Shi Qi, Neyazi Meraj, Beyer Martin, Wei Eric Q, Adam Amanda, Suresh Abhilash, Reichart Daniel, Lindberg Eric, Brown Kemar J, Strohmenger Viktoria, Saul David, Gärtner Anna, Lee Michael, Mach Lukas, Robertus Jan Lukas, Gorham Joshua M, Haas Jan, Liebig Laura A, Lippert Christoph, Meder Benjamin, Myronova Anna, Patone Giannino, Barnett Sam N, Ware James S, de Robertis Fabio, Pantazis Antonis, Gummert Jan, Viveiros Anissa, Chen Huachen, Ruiz-Orera Jorge, Frey Norbert, McDonough Barbara A, Mitchell Richard N, Padera Robert F, Day Sharlene M, Ho Carolyn Y, Lakdawala Neal K, Milting Hendrik, Heinig Matthias, Oudit Gavin Y, Noseda Michela, Seidman Jonathan G, Hübner Norbert, Seidman Christine E
Abstract excerpt
Hypertrophic cardiomyopathy (HCM) is marked by asymmetric cardiac wall thickening, hypercontractility, diastolic dysfunction, and fibrosis. Pathogenic sarcomere gene variants cause HCM, but comparable abnormalities occur in patients with unexplained disease, albeit with fewer adverse events. To investigate stage- and genotype-specific disease mechanisms, we performed single-nucleus RNA sequencing of cardiac...
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