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

Biomolecules. 2021 May 6;11(5):696. doi: 10.3390/biom11050696.

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 overlooked even when the clinical setting seems to suggest a predisposition to hemodynamic factors for LVSD.

Keywords: aortic coarctation; left ventricular systolic dysfunction; troponin T.

Publication types

  • Case Reports

MeSH terms

  • Aortic Coarctation / complications
  • Aortic Coarctation / surgery*
  • Genetic Predisposition to Disease
  • Humans
  • Magnetic Resonance Imaging, Cine
  • Male
  • Mutation, Missense*
  • Pedigree
  • Troponin T / genetics*
  • Ventricular Dysfunction, Left / diagnostic imaging*
  • Ventricular Dysfunction, Left / genetics
  • Young Adult

Substances

  • TNNT2 protein, human
  • Troponin T