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)

The case of surgical treatment of a 44-years old female with a double atrio-ventricular accessory pathway and mitral stenosis was described. Fast ventricular rates due to conduction through the accessory pathways during atrial fibrillation in course of mitral stenosis caused severe heart failure, occasionally with deep hypotonia. Combined treatment with prajmaline and propafenone blocked conduction through accessory pathways. The ventricular rate slowed from approx. 200/min to 150/min. Addition of digoxin slowed the ventricular rate down to approx 80-100/min. There were no signs of preexcitation. Treatment with diuretics and vasodilators was continued. The state of patient improved. Echocardiographic and hemodynamic evaluation revealed: mitral stenosis (orifice - 75 mm2) with moderate regurgitation, small aortic and tricuspid regurgitation. The coronary arteries were normal. On the base of the ECG recordings during atrial fibrillation both accessory pathways were localized on lateral and posterior parts of the left free wall. The patient was operated on. Both atrio-ventricular by-pass tracts were dissected using Sealy's method in Cox modification and then mitral valve prosthesis Medtronic-Hall 27 mm was implanted. Prajmaline and propafenone were discontinued and preexcitation did not recovered. The sinus rhythm was restored by electroversion. The patient had no overt heart failure on discharge from the Institute.
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PMID:[Dissection of the accessory conduction pathways with simultaneous mitral valve surgery]. 227 77

We describe a combination of multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs in a 4.5-year-old male. Craniofacial anomalies included: a high forehead, elongated face, bitemporal sparseness of hair, broad eyebrows, blepharophimosis, bilateral microphthalmia and microcornea, severe optic nerve hypoplasia, epicanthic folds, telecanthus, broad nasal bridge, puffy cheeks, microstomia, cleft palate, enamel hypoplasia, micrognathia, microtia with stenotic ear canals and posteriorly angulated ears. Head circumference was on the 10th centile and a CT scan showed dilated lateral ventricles. Intracranial pressure was not increased. Other abnormalities included: short stature, loose skin, hypotonia, pectus excavatum, inguinal and umbilical hernias, severe scoliosis, hypoplastic scrotum, long fingers and overlapping toes. Echocardiography showed tricuspid regurgitation. Chromosomes were apparently normal. Differentiation from "Michelin tire baby syndrome" and amniotic band sequence is discussed.
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PMID:New syndrome?: MCA/MR syndrome with multiple circumferential skin creases. 905 67

A case of neonatal Marfan syndrome is presented. The patient was noted to have cardiomegaly and tricuspid regurgitation on antenatal ultrasound scan. She was born with long, slender fingers and toes, an aged appearance and non-paralytic hypotonia. Echocardiogram revealed a dilated right atrium, right ventricle, dysplastic tricuspid valve and severe tricuspid regurgitation. She subsequently died of severe heart failure. Post-mortem examination showed the pathological features of lobar emphysema and cystic medial necrosis of the aorta. These features supported the diagnosis of neonatal Marfan syndrome. Nucleotide sequencing showed substitution of G by A at codon 1032 in exon 25 located in the long arm of chromosome 15. This resulted in the substitution of a cysteine by a tyrosine. A de novo mutation is suggested by the absence of affected family members.
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PMID:Neonatal Marfan syndrome: a case report. 1040 62