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Neuromuscular disorders in left ventricular hypertrabeculation/noncompaction
Josef Finsterer1, Claudia Stöllberger, Giovanni Fazio
1Krankenanstalt Rudolfstiftung, Krankenanstalt Rudolfstiftung, Vienna, Austria. fifigs1@yahoo.de
Insights
Left ventricular hypertrabeculation/noncompaction (LVHT) frequently co-occurs with neuromuscular disorders (NMDs). Further research into this association is crucial for understanding LVHT
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Left ventricular hypertrabeculation/noncompaction (LVHT) is often linked to hereditary cardiac/skeletal muscle diseases or chromosomal abnormalities.
- A significant proportion of LVHT patients (over two-thirds) also exhibit neuromuscular disorders (NMDs).
Purpose of the Study:
- To explore the association between left ventricular hypertrabeculation/noncompaction and neuromuscular disorders.
- To highlight the need for interdisciplinary investigation into the pathogenetic relationship between LVHT and NMDs.
Main Methods:
- Review of existing studies on LVHT and NMD co-occurrence.
- Analysis of frequently and occasionally associated NMDs with LVHT.
- Discussion of the potential causal link and pathomechanic associations.
Main Results:
- Common NMDs associated with LVHT include Barth syndrome, mitochondrial disorders, zaspopathy, and myotonic dystrophies.
- Less common associations include dystrobrevinopathy, laminopathies, dystrophinopathies, and others.
- Acquired LVHT predominantly occurs in patients with NMDs, suggesting a strong pathogenetic link.
Conclusions:
- A likely causal relationship exists between NMDs and LVHT, though the precise mechanisms are unclear.
- Integrated patient management involving neurologists and cardiologists, alongside family studies, is essential.
- Further investigation is needed to fully elucidate the pathogenesis, clinical course, and prognosis of LVHT in the context of NMDs.
Abstract:
Left ventricular hypertrabeculation / noncompaction (LVHT) is in the majority of the cases associated with hereditary cardiac or skeletal muscle disease or with chromosomal abnormalities. Depending on the study more than two thirds of the LVHT patients also present with a neuromuscular disorder (NMD). NMDs most frequently associated with LVHT are the Barth syndrome, mitochondrial disorders, zaspopathy, and myotonic dystrophies. NMDs only occasionally presenting with LVHT are the dystrobrevinopathy, laminopathies, dystrophinopathies, myoadenylat-deaminase deficiency, hereditary inclusion body myositis and the hereditary neuropathy CMT1A. A causal relation between NMDs and LVHT is likely, although the exact relationship and pathomechanic association remains elusive. The close pathogenetic relation is supported by the fact that the phenomenon of acquired LVHT occurs predominantly in NMDs. Consequent referral of LVHT patients to the neurologist, consequent referral of NMD patients to the cardiologist, and family investigations may help and to elucidate unsolved issues concerning the pathogenesis, course and prognosis of LVHT.
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