A de novo TNNI3K variant aggravates the pathogenicity of DMD-associated early-onset cardiomyopathy: a case report

We present a rare case of a compound genetic variant that induces severe and very-early-onset heart failure in DMD patients. The compound variant attenuates the interactions between <i>DMD</i> and <i>TNNI3K</i>, leading to functional collapse of the myofilaments. This finding emphasizes the importance of comprehensive genetic analysis in DMD patients. Identification of additional variants can significantly aggravate the pathological process and disease prognosis, and such patients always require swift and careful clinical management to obtain desirable outcomes.