title: Familial left ventricular hypertrabeculation in two blind brothers.
abstract: So far, left ventricular hypertrabeculation (LVHT) has been described to occur only sporadically. In a 49-year-old man with Leber's hereditary optic neuropathy (LHON) due to the primary LHON mutation G3460A, arterial hypertension was reported since 2000 and palpitations since 1995. ECG revealed Wolff-Parkinson-White syndrome. Transthoracic echocardiography and cardiac MRI showed myocardial thickening and LVHT. Pindolol markedly improved the cardiac abnormalities. Surprisingly, LVHT was also found in the 50-year-old brother of the index patient who also had LHON and also carried the G3460A mtDNA mutation. This brother also had Wolff-Parkinson-White syndrome and myocardial thickening, but without hypertension. It is concluded that LVHT, previously described to occur only sporadically, may be hereditary in single cases.
authors.affiliation: Ludwig Boltzmann Institute for Research in Epilepsy and Neuromuscular Disorders, Vienna, Austria. josef.finsterer@nkr.magwien.gv.at
authors.forename: Josef
authors.initials: J
authors.lastname: Finsterer
authors.forename: Claudia
authors.initials: C
authors.lastname: Stöllberger
authors.forename: Jaksch
authors.initials: J
authors.lastname: Michaela
mesh_terms: D005192:Family Health; D020022:Genetic Predisposition to Disease; D006352:Heart Ventricles / Q000002:abnormalities*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications / Q000235:genetics / Q000473:pathology; D012801:Sibling Relations; D018487:Ventricular Dysfunction, Left / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D019987:Persons with Visual Disabilities