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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
Insights
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.
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.
- 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.
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.