Katharina Niedermayr1, Gerhard Pölzl2, Sabine Scholl‐Bürgi1, Christine Fauth3, Ulrich Schweigmann1, Edda Haberlandt1, Ursula Albrecht1, Manuela Zlamy1, Wolfgang Sperl4, Johannes A. Mayr4, Daniela Karall1
Congenital Heart Disease, Vol.13, No.5, pp. 671-677, 2018, DOI:10.1111/chd.12634
Abstract Objective: In general, a mitochondrial disorder is diagnosed on the basis of symptom
combinations and confirmed by genetic findings. However, patients carrying the
m.3243A>G mutation in the mitochondrial tRNA leucine 1 (MT‐TL1) do not always
meet all the proposed criteria for the most frequently encountered mitochondrial
syndrome “MELAS,” an acronym for Mitochondrial Encephalomyopathy, Lactic
Acidosis, and at least one Stroke‐like episode. We here present various phenotypic
characteristics of the mitochondrial mutation m.3243A>G with particular focus on
cardiac manifestations.
Methods and Results: We followed nine patients (1 month to 68 years old; median
42 years; four female and five male) from… More >
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