Long QT syndrome diagnosed in two sisters with propionic acidemia: a case report
-
Ensar Duras
,
Ahmet İrdem
Abstract
Propionic acidemia (PA) is a rare autosomal recessive metabolic disorder caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylase (PCC). This disorder mostly progresses with episodes of metabolic acidosis. Cardiomyopathy is among the cardiac complications known to occur during metabolic decompensation episodes. However, several recent papers emphasized the association of PA and long QT syndrome (LQTS) which may lead to extremely serious and fatal consequences. In this report, we describe two sisters with PA who have prolonged QT duration that were incidentally detected in an outpatient setting. LQTS was verified by electrocardiogram, stress test and 24 h rhythm holter monitoring. By this report, we want to emphasize the importance of early diagnosis of LQTS in asymptomatic patients with PA to prevent fatal complications.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2017 Walter de Gruyter GmbH, Berlin/Boston
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- Original Articles
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- Do sufficient vitamin D levels at the end of summer in children and adolescents provide an assurance of vitamin D sufficiency at the end of winter? A cohort study
- Type 3 renal tubular acidosis associated with growth hormone deficiency
- Serum α-klotho levels are not informative for the evaluation of growth hormone secretion in short children
- Evaluation of neurodevelopment of children with congenital hypothyroidism by the Denver Developmental Screening Test
- Pediatric differentiated thyroid carcinoma: trends in practice and outcomes over 40 years at a single tertiary care institution
- Physical activity and bone mineral density at the femoral neck subregions in adolescents with Down syndrome
- A pilot study on the utility of reduced urine collection frequency protocols for the assessment of reproductive hormones in adolescent girls
- MODY in Ukraine: genes, clinical phenotypes and treatment
- A retrospective review of initial bisphosphonate infusion in an inpatient vs. outpatient setting for bisphosphonate naïve patients
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- Letter to the Editor
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- Delayed diagnosis of proopiomelanocortin (POMC) deficiency with type 1 diabetes in a 9-year-old girl and her infant sibling
