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.