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 over-looked even when the clinical setting seems to suggest a predisposition to hemodynamic factors for LVSD.
Troponin t mutation as a cause of left ventricular systolic dysfunction in a young patient with previous surgical correction of aortic coarctation / Caiazza, M., Lioncino, M., Monda, E., Di Fraia, F., Verrillo, F., Pacileo, R., Amodio, F., Rubino, M., Cirillo, A., Fusco, A., Romeo, E., Scatteia, A., Dellegrottaglie, S., Calabro, P., Sarubbi, B., Baban, A., Frisso, G., Russo, M.G., Limongelli, G.. - In: BIOMOLECULES. - ISSN 2218-273X. - 11:5(2021), pp. 696-699. [10.3390/biom11050696]
Troponin t mutation as a cause of left ventricular systolic dysfunction in a young patient with previous surgical correction of aortic coarctation
Sarubbi B.;Frisso G.;
2021
Abstract
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 over-looked even when the clinical setting seems to suggest a predisposition to hemodynamic factors for LVSD.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
