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Familal left ventricular hypertrabeculation (noncompaction) is myopathic
Josef Finsterer1, Claudia Stöllberger, Gerhardt Blazek
1Krankenanstalt Rudolfstiftung, Vienna, Danube University Krems, Austria. fifigs1@yahoo.de
International Journal of Cardiology
|July 27, 2011
Summary
Left-ventricular hypertrabeculation/noncompaction (LVHT) is familial in 27% of cases and often linked to neuromuscular disorders. Familial LVHT can vary among relatives and may present with other cardiac issues.
Area of Science:
- Cardiology
- Genetics
- Neurology
Background:
- Left-ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality with unknown causes.
- LVHT is frequently linked to arrhythmias, heart failure, embolism, and often associated with neuromuscular disorders (NMDs) or genetic syndromes.
- Familial occurrence of LVHT is occasionally observed.
Purpose of the Study:
- To investigate the prevalence of familial LVHT among first-degree relatives of index patients.
- To characterize cardiac abnormalities and associated conditions in familial LVHT cases.
Main Methods:
- Cardiological investigation of 25 first-degree relatives from 15 families with index patients diagnosed with LVHT.
- Analysis of LVHT prevalence, familial patterns, and co-occurrence with NMDs or other cardiac abnormalities.
Main Results:
- Familial LVHT was detected in 4 out of 15 families (27%).
- Among relatives with LVHT, 75% were diagnosed with a NMD.
- LVHT presentation varied among relatives in some families, and other cardiac abnormalities were noted in relatives without LVHT.
Conclusions:
- At least 27% of LVHT cases have a familial component.
- Familial LVHT is frequently associated with NMDs.
- Relatives of LVHT patients may exhibit varying cardiac abnormalities, including conditions other than LVHT.
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