AJMP2501 - CME/CMLE - Identification of novel TTN gene variant in a patient exhibiting severe dilated cardiomyopathy co-occurring with acute fibrinoid organizing pneumonia-Identification of novel TTN gene variant in a patient exhibiting severe dilated cardiomyopathy co-occurring with acute fibrinoid organizing pneumonia

Identification of novel TTN gene variant in a patient exhibiting severe dilated cardiomyopathy co-occurring with acute fibrinoid organizing pneumonia

Back to course

Pdf Summary

This report discusses a rare case involving a novel Titin (TTN) gene variant in a 24-year-old male patient who presented with severe dilated cardiomyopathy (DCM) and acute fibrinoid organizing pneumonia. The patient had a complex medical history, including substance abuse and psychiatric conditions such as bipolar disorder and autism, which affected his eligibility for heart transplantation. Despite intensive treatment, his cardiac function continued to deteriorate, leading to an autopsy.<br /><br />The autopsy findings indicated extreme cardiomegaly, biventricular hypertrophy, pericarditis, and organizing pneumonia, but the most significant discovery was a maternally inherited nonsense TTN gene variant. This variant, identified as NM_001267550.2:c.92603GA, was absent in the patient's sibling and existing medical literature, signifying its uniqueness and potential pathogenic role in his cardiac condition.<br /><br />The study underscores the importance of genetic testing in DCM cases, particularly given that a significant percentage of nonischemic DCM has a genetic basis, often going undetected due to underutilization of testing despite the multifaceted etiology involving new genetic variants and environmental factors.<br /><br />In addition to the cardiac findings, the patient had acute fibrinous organizing pneumonia, characterized by intra-alveolar fibrin deposition, though the link between the TTN variant and lung pathology remains unclear. This case prompts further investigation into the interplay between cardiomyopathy and pulmonary pathology.<br /><br />Overall, this case emphasizes the necessity for comprehensive genetic evaluation in DCM patients and proposes further research into the relationships between genetic abnormalities and complex cardiopulmonary diseases. The findings contribute to the understanding of TTN variants' role in cardiac pathology and suggest potential implications for genetic counseling, molecular diagnostics, and treatment strategies.

Keywords

Titin gene variant

dilated cardiomyopathy

organizing pneumonia

genetic testing

cardiomegaly

biventricular hypertrophy

nonsense TTN variant

genetic counseling

molecular diagnostics

cardiopulmonary diseases