Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic Coarctation

Martina Caiazza, Michele Lioncino, Emanuele Monda, Francesco Di Fraia, Federica Verrillo, Roberta Pacileo, Federica Amodio, Marta Rubino, Annapaola Cirillo, Adelaide Fusco, Emanuele Romeo, Alessandra Scatteia (+7 others)
2021 Biomolecules  
Coarctation of the aorta is a leading cause of morbidity and mortality among adults with congenital heart disease (ACHD). Lifelong surveillance is mandatory to screen for possible long-term cardiovascular events. Left ventricular systolic dysfunction has been reported in association with recoarctation, and association with dilated cardiomyopathy (DCMP) is very rare. Herein, we report the case of a 19-year-old boy with coarctation of the aorta who complained of mild exertional dyspnea. Cardiac
more » ... gnetic resonance revealed a moderately dilated, hypokinetic left ventricle (LV), with mildly reduced EF (45%), and residual isthmic coarctation was excluded. Genetic tests revealed a heterozygous missense variant in TNNT2 (NM_001001430.2): c.518G>A (p. Arg173Gln). This case highlights the role of careful history taking: a family history of cardiomyopathy should not be overlooked even when the clinical setting seems to suggest a predisposition to hemodynamic factors for LVSD.
doi:10.3390/biom11050696 pmid:34066613 fatcat:qqxshpqjhbbgplz6imypt46clm