Key result
Genetic testing reveals a TNNT2 variant causing LVSD in a 19-year-old following aortic coarctation correction.
Case Report (n=1)
A family history of cardiomyopathy should be carefully evaluated in patients with congenital heart disease presenting with left ventricular systolic dysfunction, even when hemodynamic causes seem likely.
Rare DCMP link in coarctation warrants surveillance vigilance; leaves open causality and prevalence in ACHD.
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.
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Caiazza et al. (2021) conducted a case report in Left ventricular systolic dysfunction and coarctation of the aorta (n=1). TNNT2 mutation (c.518G>A) was evaluated on Genetic diagnosis of left ventricular systolic dysfunction. Genetic testing revealed a heterozygous missense variant in TNNT2 as the cause of left ventricular systolic dysfunction in a 19-year-old with previous aortic coarctation correction.
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