Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two cases of cardiac glycogen storage disease type II are described: the first one, male aged 3 months, presented with generalized muscular hypotonia and decreased deep tendon reflexes; a 2/6 systolic murmur was audible at the left sternal border; chest X-ray and ECG were consistent with left ventricular hypertrophy; an echocardiogram disclosed an impressive and diffuse cardiac hypertrophy; the pump function appeared preserved and the estimated ejection fraction was about 70%. Pulsed wave Doppler demonstrated a normal envelope of mitral flow with E/A ratio = 1.27 in averaged 20 beats. The patient died suddenly at 6 months of age. The second patient was a female 4 months old with generalized muscular hypotonia. ECG and chest X-ray were consistent with left ventricular hypertrophy; 2D echocardiogram showed diffuse hypertrophy with estimated ejection fraction of 68% and an almost normal aspect of the mitral flow curve, with E/A ratio of 1.18. This child died at 13 months of age of cardiopulmonary insufficiency. In both cases the diagnosis was made by muscular biopsy and biochemical tests (alpha 1-4 glucosidase deficiency). We stress the fact that, despite the severe and diffuse hypertrophy, the pump function and the ventricular filling did not seem compromised.
Acta Cardiol 1991
PMID:Echocardiographic and pulsed Doppler features in glycogen storage disease type II of the heart (Pompe's disease). 182 99

Pompe's disease was diagnosed in a 23-day-old female infant with congestive cardiac failure and hypotonia. The cross-sectional echocardiographic features of this case are described. The possible implications of this extremely early presentation are discussed.
Int J Cardiol 1987 Sep
PMID:Very early presentation of Pompe's disease and its cross-sectional echocardiographic features. 330 16

The prognosis of patients with cardiomyopathy associated with hypocarnitinemia is uncertain. Cardiac hemodynamics, histologic findings and response to oral L-carnitine therapy were retrospectively evaluated in 11 children with cardiomyopathy associated with abnormal carnitine metabolism. Three had systemic carnitine deficiency, two familial hypocarnitinemia with neutropenia, three transient neonatal hypocarnitinemia and three a carnitine insufficiency syndrome. Six had a hypertrophic and five a dilated cardiomyopathy. Hypotonia was present in seven (64%). The cardiothoracic ratio was greater than 0.60 in eight (73%). The most frequent abnormality on the electrocardiogram was ST-T wave inversion in the left precordial leads with various degrees of left ventricular hypertrophy. Echocardiographically, two patients with hypertrophic cardiomyopathy had decreased left ventricular function and two patients with dilated cardiomyopathy had increased thickness of the left ventricular wall. Histologic evaluation (two autopsies and one endomyocardial biopsy) revealed striking lipid accumulation within hypertrophied myocytes. Six of eight patients on carnitine replacement therapy had improvement echocardiographically during a 3 month to 2 year follow-up period. In summary, both hypertrophic and dilated cardiomyopathy can result from abnormal carnitine metabolism. The determination of plasma carnitine concentrations and fatty acid metabolism by-products should be performed in all patients with either form of cardiomyopathy of unknown etiology because carnitine supplementation may lead to improvement.
J Am Coll Cardiol 1988 Jun
PMID:Cardiac manifestations in disorders of fat and carnitine metabolism in infancy. 336 6

Barth syndrome is an X-linked recessive disorder comprising dilated cardiomyopathy, muscular hypotonia, and cyclical neutropenia. Affected children usually die during infancy as a consequence of septicemia, cardiac failure, or both. We report a patient with Barth syndrome who underwent successful heart transplantation.
Pediatr Cardiol
PMID:Heart transplantation for Barth syndrome. 904 31

The cardiac features of a novel form of congenital muscular dystrophy (Salih CMD) are described in two adolescent siblings. The patients presented with severe hypotonia at birth, associated with delayed development. They could walk independently and managed to maintain walking after 13 years of age. Their muscle immunohistochemistry differed from that seen in Duchenne and Becher muscular dystrophy (DMD and BMD), severe childhood autosomal recessive muscular dystrophy (SCARMD) due to sarcoglycan deficiency (sarcoglycanopathies), and lamininalpha2 (merosin)-deficient CMD. However, both patients had associated cardiomyopathy. Electrocardiography (ECG) in Salih CMD was characterized by delayed atrioventricular (AV) conduction, left anterior fascicular block (left axis deviation), and left atrial enlargement without evidence of atrial dysarrhythmia. Echocardiography showed features of severe left ventricular dysfunction with estimated left ventricle ejection fraction (LVEF) of 25% at 16 years-of-age in the older patient. A year later, multigated aquisition MUGA scan showed LVEF of 21% and dilatation of the right ventricle. Echocardiography and MUGA scan were normal in the younger patient at 15 years-of-age. ECG, echocardiography, and MUGA scan are effective techniques for diagnosing and monitoring the cardiomyopathy in Salih CMD. They can also distinguish it from features seen in the other common forms of MD, including DMD, BMD, and sarcoglycanopathies.
Pediatr Cardiol
PMID:Distinguishing cardiac features of a novel form of congenital muscular dystrophy (Salih cmd). 1145 96

Classical screening tests (maximal electroshock, MES, and threshold pentylenetetrazol, PTZ) employ non-epileptic rodents and identify antiepileptic drugs (AEDs) with mechanisms of action associated with significant CNS side effects. Thus MES identifies drugs acting on Na+ channels that produce cerebellar toxicity. It may be possible to produce novel AEDs more selectively targeted at voltage-sensitive (VS) ion channels. There is little specific evidence for the likely success of this strategy with subunit selective agents targeted at the different VS Na+ channels. Drugs targeted at specific VS Ca++ channels (T, N, P/Q types) may be useful in generalised seizures. There are many as yet unexplored possibilities relating to K+ channels. GABA related drugs acting on PTZ clonic seizures tend to induce sedation and muscle hypotonia. Studies in mice, particularly with knock-in mutations, but also with subunit selective agents acting via the GABA(A) benzodiazepine site, suggest that it is possible to produce agents which do or do not induce particular side effects (sedative, hypnotic, anxiolytic, muscle relaxant, amnesia, anaesthesia). Whether these findings transfer to man has yet to be established. Acquired epilepsy in rodents (e.g. kindling or spontaneous seizures following chemically- or electrically-induced status epilepticus) or acquired epilepsy in man (following prolonged febrile seizures or traumatic brain injury) is associated with multiple changes in the function and subunit composition of ion channels and receptor molecules. Optimal screening of novel AEDs, both for efficacy and side effects, requires models with receptor and ion channel changes similar to those in the target human syndrome.
 ...
PMID:Do preclinical seizure models preselect certain adverse effects of antiepileptic drugs. 1215 Nov 15

Malonyl-CoA decarboxylase deficiency is an inborn error of metabolism that may cause hypotonia and a fatal cardiomyopathy in infancy. Newborn metabolic screening programs do not include this disorder, although there is a possibility that presymptomatic treatment may attenuate the development of cardiomyopathy. We report a case of malonyl-CoA decarboxylase deficiency in a 5-month-old boy who presented with cardiomyopathy and hypotonia. Retrospective analysis of the newborn screening test showed an elevation in the concentration of malonylcarnitine at age 3 days. Unfortunately, this perturbation was missed because the screening test did not routinely measure malonylcarnitine in the newborn blood. Our experience confirms the possibility of screening for malonyl-CoA decarboxylase deficiency with tandem mass spectrometry. This finding should enable studies to determine if presymptomatic treatment could change the outcome in this often fatal disorder.
Pediatr Cardiol
PMID:Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening. 1607 22

We report an infant with hypoplastic left heart syndrome consisting of mitral valvar atresia, aortic valvar atresia, hypoplasia of the aortic arch and coarctation of the aorta, who demonstrated respiratory failure and global hypotonia, and who was eventually diagnosed with spinal muscular atrophy.
Cardiol Young 2006 Feb
PMID:An infant with hypoplastic left heart syndrome and spinal muscular atrophy. 1645 82

This year marks 40 years since the technique was designed of measuring and monitoring the basic haemodynamic parameters in humans by means of impedance cardiography (ICG), also known as "impedance plethysmography of the chest", "electrical bioimpedance of the chest" or "reocardiography". The method makes it possible to denote stroke volume and cardiac output. It also enables the factors to be assessed that influence the following: preload (measurement of thoracic fluid content), afterload (measurement of systemic vascular resistance), the systemic vascular resistance index, contractibility (measurement of the acceleration index), the velocity index, the pre-ejection period, left ventricular ejection time, systolic time ratio and heart rate. Advances in hardware and software, including digital signal tooling and new algorithms, have certainly improved the quality of the results obtained. The accuracy and repeatability of the results have been confirmed in comparative studies with results obtained through invasive methods and echocardiography. Not only are haemodynamic changes monitored by means of ICG in intensive care units, in operating theatres and at haemodialysis stations, but repeated measurements also provide haemodynamic information during the treatment of patients with hypertension and heart failure and pregnant women with cardiological problems and gestosis. A single ICG investigation makes a great contribution to the basic information available about the circulatory system, which is helpful in the initial evaluation of patients in a severe general condition (for example in the admission room), and also makes it possible to make a swift diagnosis of the cause of complaints such as dyspnoea and hypotonia. A particular application of ICG is the assessment of haemodynamic parameters during the programming of atrioventricular and CRT pacemakers. Besides these uses, ICG is a valuable investigative tool. It is defect-free and does not have pulmonary artery pressure monitoring limitations. Moreover, it is not as time-consuming as echocardiography and the examination can be performed by trained technicians or nurses. (Cardiol J 2007; 14: 115-126).
Cardiol J 2007
PMID:Impedance cardiography: A valuable method of evaluating haemodynamic parameters. 1865 47

We report the case of a 43-day-old boy with branchio-oculo-facial syndrome (BOFS) and congenital heart defect. On clinical examination, he presented growth retardation, epicanthal folds, small palpebral fissures, telecanthus, broadened nasal bridge, lip pseudocleft, micrognathia, dysplastic and posteriorly-rotated ears, branchial clefts, short and webbed neck, supernumerary nipple, hypotonia and decreased deep tendon reflexes. Echocardiography showed the presence of a type-A complete atrioventricular septal defect and patent ductus arteriosus. This description strengthens the possibility of congenital heart defects being part of the spectrum of anomalies seen in BOFS.
Arq Bras Cardiol 2009 Feb
PMID:Branchio-oculo-facial syndrome (BOFS) and congenital heart defects. 1936 Feb 35


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