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,
Santo Dellegrottaglie,
Paolo Calabrò,
Berardo Sarubbi,
Anwar Baban,
Giulia Frisso,
Maria Giovanna Russo,
Giuseppe Limongelli
Affiliations
Martina Caiazza
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, Italy
Michele Lioncino
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, Italy
Emanuele Monda
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, Italy
Francesco Di Fraia
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, Italy
Federica Verrillo
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, Italy
Roberta Pacileo
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, Italy
Federica Amodio
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, Italy
Marta Rubino
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, Italy
Annapaola Cirillo
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, Italy
Adelaide Fusco
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, Italy
Emanuele Romeo
Adult Congenital Heart Disease Unit, Department of Cardiology, Monaldi Hospital, 80131 Naples, Italy
Alessandra Scatteia
Division of Cardiology “Villa dei Fiori” Hospital, Acerra, 80011 Naples, Italy
Santo Dellegrottaglie
Division of Cardiology “Villa dei Fiori” Hospital, Acerra, 80011 Naples, Italy
Paolo Calabrò
Division of Clinical Cardiology, A.O.R.N. “Sant’Anna e San Sebastiano”, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, 80131 Napoli, Italy
Berardo Sarubbi
Adult Congenital Heart Disease Unit, Department of Cardiology, Monaldi Hospital, 80131 Naples, Italy
Anwar Baban
Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children’s Hospital and Research Institute, 00165 Rome, Italy
Giulia Frisso
Department of Molecular Medicine and Medical Biotechnology, Federico II University of Naples, CEINGE Scarl-Advanced Biotechnologies, 80131 Naples, Italy
Maria Giovanna Russo
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, Italy
Giuseppe Limongelli
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania “Luigi Vanvitelli”, Monaldi Hospital, 80131 Naples, Italy
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.
