Background: Elevated troponin T (cTnT) and/or troponin I (cTnI) can be ascribed to multiple causes, mostly resulting from cardiac tissue damage and in lesser numbers resulting from non-cardiac related causes. The presence of macrotroponins is easily overlooked, with potentially negative consequences.
Case Summary: This case report presents a case study of a 12-year-old child known to have MYH7 gene-associated hypertrophic cardiomyopathy with acute chest pain combined with an unexpected high cTnT and cTnI.
We report a 19-month-old patient with cardiomyopathy as the first presenting feature of primary COQ10 deficiency-6. This case expands the phenotypic spectrum of this disorder. Furthermore, it shows that genetic testing for primary COQ10 deficiency should be considered in patients with pediatric-onset cardiomyopathy as it can guide treatment options.
View Article and Find Full Text PDF