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Related Experiment Videos

Familial left ventricular hypertrabeculation in two blind brothers.

Josef Finsterer1, Claudia Stöllberger, Jaksch Michaela

  • 1Ludwig Boltzmann Institute for Research in Epilepsy and Neuromuscular Disorders, Vienna, Austria. josef.finsterer@nkr.magwien.gv.at

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology
|May 29, 2002
PubMed
Summary

Left ventricular hypertrabeculation (LVHT), previously considered rare, may be hereditary. This study found LVHT in two brothers with Leber's hereditary optic neuropathy, suggesting a genetic link.

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Area of Science:

  • Cardiology
  • Genetics
  • Ophthalmology

Background:

  • Left ventricular hypertrabeculation (LVHT) is a rare cardiac condition.
  • Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease affecting vision.
  • Wolff-Parkinson-White syndrome is a cardiac arrhythmia.

Observation:

  • A 49-year-old man with LHON (G3460A mutation) and hypertension presented with palpitations and Wolff-Parkinson-White syndrome.
  • Cardiac imaging revealed myocardial thickening and LVHT, which improved with pindolol treatment.
  • His 50-year-old brother, also with LHON and the same mutation, exhibited Wolff-Parkinson-White syndrome and myocardial thickening, but not LVHT.

Findings:

  • The index patient and his brother both carried the G3460A mtDNA mutation associated with LHON.

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  • LVHT was observed in the index patient and Wolff-Parkinson-White syndrome in both brothers.
  • The co-occurrence of LVHT and LHON in siblings suggests a potential hereditary connection.

    • Implications:

    • LVHT may have a hereditary component in certain cases, particularly when associated with mitochondrial diseases like LHON.
    • This finding challenges the notion of LVHT occurring solely sporadically.
    • Further research is warranted to explore the genetic basis of LVHT and its association with other inherited conditions.