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. 2025 Feb 26;12(5):101575.
doi: 10.1016/j.gendis.2025.101575. eCollection 2025 Sep.

Clinical impact of the TPM1 p.Tyr221Cys variant causing hypertrophic cardiomyopathy

Alessio Marinelli  1   2 , Giuliana Longo  3 , Vincenzo Cirigliano  3 , Esther Campopiano  1 , Clementina Dugo  1 , Luca Ghiselli  1 , Andrea Chiampan  1 , Gianluca Ferri  1 , Alessandro Costa  1 , Stefano Bonapace  1 , Laura Lanzoni  1 , Giulio Molon  1
Affiliations

Clinical impact of the TPM1 p.Tyr221Cys variant causing hypertrophic cardiomyopathy

Alessio Marinelli et al. Genes Dis. .
No abstract available

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Conflict of interest statement

The authors have no conflicts to disclose.

Figures

Figure 1
Figure 1
The TPM1 p. Tyr221Cys variant causing hypertrophic cardiomyopathy. (A) Steady-state free precession sequences show hypertrophic interventricular septum, especially at the basal and mid-level of the left ventricle (A1, A2); Late gadolinium enhancement characterized by a patchy distribution is identified in the hypertrophic segments (A3, A4). (B) Abnormal electrocardiogram. (C) Proband family tree. Blue elements are the patients affected by HCM and carriers of the TPM1 variant. The green elements are the brothers of the proband who do not carry the mutation and are disease-free. White elements are the people on whom no genetic data are available. The mother of the proband died suddenly at 49 years old, and the maternal grandmother at 44 years old. (D) Cardiac sarcomere with the major HCM disease-causing proteins/genes.
See this image and copyright information in PMC

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