Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic Coarctation.
aortic coarctation
left ventricular systolic dysfunction
troponin T
Journal
Biomolecules
ISSN: 2218-273X
Titre abrégé: Biomolecules
Pays: Switzerland
ID NLM: 101596414
Informations de publication
Date de publication:
06 05 2021
06 05 2021
Historique:
received:
17
04
2021
revised:
01
05
2021
accepted:
01
05
2021
entrez:
2
6
2021
pubmed:
3
6
2021
medline:
23
9
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34066613
pii: biom11050696
doi: 10.3390/biom11050696
pmc: PMC8148585
pii:
doi:
Substances chimiques
TNNT2 protein, human
0
Troponin T
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
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