Biomolecules · 2021
Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic Coarctation.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Caiazza Martina, Lioncino Michele, Monda Emanuele, Di Fraia Francesco, Verrillo Federica, Pacileo Roberta, Amodio Federica, Rubino Marta, Cirillo Annapaola, Fusco Adelaide, Romeo Emanuele, Scatteia Alessandra, Dellegrottaglie Santo, Calabrò Paolo, Sarubbi Berardo, Baban Anwar, Frisso Giulia, Russo Maria Giovanna, Limongelli Giuseppe
Аннотация
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 magnetic 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.