Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.5.1.4 (deaminase)
 5,113 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This review focuses on recent advances in the association between left ventricular hypertrabeculation/noncompaction (LVHT), a form of unclassified cardiomyopathy, and neuromuscular disorders (NMD). So far, LVHT has been found in single patients with dystrophinopathy, dystrobrevinopathy, laminopathy, zaspopathy, myotonic dystrophy, infantile glycogenosis type II (Pompe's disease), myoadenylate-deaminase deficiency, mitochondriopathy, Barth syndrome, Friedreich ataxia, and Charcot-Marie-Tooth disease. Most frequently LVHT is found in patients with Barth syndrome and mitochondrial disorders. The prevalence of LVHT in NMD patients is not known. On the contrary, NMD can be detected in up to four fifths of the patients with LVHT. Because LVHT is associated with an increased risk of rhythm abnormalities and heart failure, it is essential to detect LVHT as soon as possible. Because of adequate therapeutic options, all patients with NMD should undergo a comprehensive cardiological examination as soon as their neurological diagnosis is established. In reverse, all patients with LVHT should undergo a comprehensive neurological investigation following the detection of LVHT.
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PMID:Neuromuscular implications in left ventricular hypertrabeculation/noncompaction. 1636 74

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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PMID:Neuromuscular disorders in left ventricular hypertrabeculation/noncompaction. 2063 53