Author

K. Aalto-Setälä

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Open access Sep 2026

Patient-Derived hiPSC-Cardiomyocytes and Engineered Heart Tissues Reveal Distinct Functional Phenotypes in Inherited Cardiomyopathies

Background Hypertrophic and dilated cardiomyopathies (HCM and DCM) are the most common inherited cardiomyopathies. However, genotype-specific molecular and functional cardiomyocyte phenotypes and responses to neurohormonal stimulation remain incompletely understood. Here, we investigated whether patient-derived HCM and...

S. Pohjavaara, Q. Majid, L. Huttunen et al. · bioRxiv · 0 citations

Review Open access Aug 2026

Expanding the cardiac phenotype of homozygous PPA2 variants: insights from a large Finnish family

Cardiomyopathies in children associate with significant morbidity and mortality. PPA2 deficiency is a rare mitochondrial disorder linked to sudden cardiac death in children and adolescents. Most reported cases are post-mortem, with limited data on surviving individuals. To expand the phenotypic understanding of...

K. Heliö, Aurelia Ahokas, Sonja Sulkava et al. · Orphanet Journal of Rare Dis... · 0 citations