Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 12 infants and children with hypertrophic cardiomyopathy (HCM), seen during a 5-year period, the incidence of the idiopathic or primary form was similar to that secondary to systemic disease. Five of the six patients with secondary HCM are reported. Pompe's disease, Friedreich's ataxia, and Noonan's syndrome were seen in one each. There were two patients with lentiginosis. The diagnosis of HCM and of the metabolic disorder was made simultaneously in the patient with Pompe's disease. In two patients, one with Friedreich's ataxia and the other with lentiginosis, the diagnosis of HCM preceded the manifestations of the associated disorder. The other two patients were referred to rule out heart disease. The diagnosis of HCM in infancy and childhood should be considered with the possibility of being a secondary form, and patients with known associations with HCM should be referred for early diagnosis of heart conditions.
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PMID:Secondary hypertrophic cardiomyopathy in infancy and childhood. 623 68

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