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    Mitochondrial DNA mutation “m.3243A>G”—Heterogeneous clinical picture for cardiologists (“m.3243A>G”: A phenotypic chameleon)

    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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