Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy.

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.

Unexpected high troponin T and I values in a child with hypertrophic cardiomyopathy and acute chest pain: a case report.

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. A cardiac cause was deemed unlikely after additional investigation, as these showed no abnormalities. After consulting a laboratory specialist, it could be concluded that the high cTnT and cTnI were a result of macrotroponin complexes, a protein complex consisting of circulating protein and endogenous autoantibodies against that protein, resulting in elevated values with misguiding and uncertain clinical significance. Discussion: Awareness of the existence of macrotroponins could have prevented costly diagnostics and prolonged hospital admission with grave psychological impact, especially in children.