Conclusion and Results (Outcome and Follow-up):
During his hospitalization, the patient’s condition remained critical, necessitating prolonged intubation, mechanical ventilation, and hemodialysis for acute renal failure. His overall hemodynamic status remained tenuous, and a neurology evaluation, including EEG, was consistent with brain death. The family ultimately requested the withdrawal of life support in 2022.
Genetic and metabolic profiling performed on the patient (collection date: 2022) revealed a significant finding. A heterozygous c.67279C>T (p. Arg22427Ter) pathogenic variant in the TTN (NM_001267550.1) gene was detected in the patient’s sample, suggesting a genetic predisposition associated with the TTN gene.
This case presents a complex clinical scenario of a young adult with psychiatric illness, substance abuse, familial dilated cardiomyopathy, and a tragic course marked by acute respiratory failure, cardiac arrest, and severe cardiogenic shock. The discovery of a TTN gene pathogenic variant in the patient underscores the importance of considering genetic factors in cases of unexplained cardiomyopathy, especially in the context of a family history of cardiac disease. Genetic counseling and further genetic testing for at-risk family members are recommended to better understand and manage the genetic predisposition identified in this case.