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Purpose of Review <p>Titin-related cardiomyopathy (TTN CMP) is the most prevalent genetic cause of dilated cardiomyopathy (DCM), yet its clinical variability and incomplete penetrance challenge risk stratification and therapeutic management. This review aims to summarize recent insights into the genetic, molecular, and clinical aspects of TTN-CMP, emphasizing its heterogeneity and the implications for diagnosis, prognosis, and treatment.</p> Recent Findings <p><i>TTN</i> truncating variants (<i>TTN</i>tv) are associated with DCM but are also present in asymptomatic individuals, complicating their interpretation. Emerging evidence suggests that both haploinsufficiency and toxic gain-of-function mechanisms may underlie disease expression, influenced by variant location and expression. Patient-derived iPSC models and advanced imaging studies have elucidated pathophysiological mechanisms and highlighted promising therapeutic targets. Clinically, TTN-CMP shows relatively high rates of left ventricular reverse remodeling and variable arrhythmic burden, with male sex and environmental stressors influencing outcomes.</p> Summary <p>TTN-CMP spans a broad phenotypic spectrum, ranging from asymptomatic carriers to end-stage heart failure. While standard heart failure therapies are often effective, precision management remains limited. Improved clinical, genetics and molecular understanding, together with novel experimental models, provide promising new tools for precise disease assessment and targeted therapeutic interventions.</p>

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Titin Cardiomyopathy, Emerging Evidence: More Than A Big Heart

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年12月2日

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  • Federico Angriman,
  • Francesca Bortolotti,
  • Maria Perotto,
  • Rebecca Artioli,
  • Cinzia Radesich,
  • Alessia Paldino,
  • Chiara Collesi,
  • Serena Zacchigna,
  • Gianfranco Sinagra,
  • Matteo Dal Ferro

摘要

Purpose of Review

Titin-related cardiomyopathy (TTN CMP) is the most prevalent genetic cause of dilated cardiomyopathy (DCM), yet its clinical variability and incomplete penetrance challenge risk stratification and therapeutic management. This review aims to summarize recent insights into the genetic, molecular, and clinical aspects of TTN-CMP, emphasizing its heterogeneity and the implications for diagnosis, prognosis, and treatment.

Recent Findings

TTN truncating variants (TTNtv) are associated with DCM but are also present in asymptomatic individuals, complicating their interpretation. Emerging evidence suggests that both haploinsufficiency and toxic gain-of-function mechanisms may underlie disease expression, influenced by variant location and expression. Patient-derived iPSC models and advanced imaging studies have elucidated pathophysiological mechanisms and highlighted promising therapeutic targets. Clinically, TTN-CMP shows relatively high rates of left ventricular reverse remodeling and variable arrhythmic burden, with male sex and environmental stressors influencing outcomes.

Summary

TTN-CMP spans a broad phenotypic spectrum, ranging from asymptomatic carriers to end-stage heart failure. While standard heart failure therapies are often effective, precision management remains limited. Improved clinical, genetics and molecular understanding, together with novel experimental models, provide promising new tools for precise disease assessment and targeted therapeutic interventions.