Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy

Myocardial thickening and isolated left ventricular abnormal trabeculation (ILVAT) have not been described in patients with Leber's hereditary optic n europathy (LHON) before. Wolff-Parkinson-White syndrome, myocardial thicken ing and ILVAT were found by electrocardiogram, echocardiography and cardiac magnetic resonance imaging in a 48 year old man with bilateral, severely r educed visual acuity since age 24 years, palpitations since age 43 years an d lower limb muscle cramps since age 47 gears. Because ILVAT is frequently associated with respiratory chain disorders, neurological investigations we re initiated, revealing the primary LHON mutation G3460A in lymphocytic mit ochondrial DNA. On the basis of the clinical and genetic data, LHON was dia gnosed in the index patient, but also in the patient's brother who showed I LVAT as well. Wolff-Parkinson-White syndrome, myocardial thickening and ILV AT may be rare manifestations of LHON.