Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This report represents the Brompton Hospital experience of infants and neonates with critical pulmonary valve stenosis and aortic valve stenosis. There were 25 patients with critical pulmonary valve stenosis and 8 with critical aortic valve stenosis. Critical pulmonary stenosis: Among the 25 patients up to one year of age, 11 were girls and the commonest presenting symptom was cyanosis seen in 15, the commonest physical sign being a systolic ejection murmur with a single 2nd sound. A more detailed analysis of the symptoms, signs and findings at special investigation will be presented. The evolution of a satisfactory technique of operation will be indicated in these critically ill patients, and the late follow-up will be presented. Critical aortic stenosis: There were 8 patients in this group all of whom were male. Dyspnoea was the commonest presenting symptom with a systolic ejection murmur and hepatomegaly as the commonest signs. All patients in this group underwent open aortic valvotomy and/or valvuloplasty with 3 deaths. A late follow-up of the survivors will be presented. In summary, a series of 33 patients up to the age of one year with critical obstruction of either the pulmonary or aortic valves will be presented. (his is one of the larger series to be reported in this age group.
 ...
PMID:[Critical outflow valve obstruction under the age of one year (author's transl)]. 108 66

Geleophysic dysplasia is characterized by typical facies ("happy natured"), small hands and feet, short stature, hepatomegaly, and progressive cardiac disease. We describe five patients (two of whom are siblings) with this disorder and document its variable expressivity. The facies were strikingly similar with small nose, anteverted nostrils, broad nasal bridge, and long thin upper lip with flat and long philtrum. Behavior, development, and intelligence were normal. Growth delay was noticed during infancy, and the two patients who completed normal puberty had marked short stature (140 and 150 cm), with relatively lean body habitus. The hands and feet were small, with short, plump tubular bones and broad proximal phalanges, associated with marked limitation in motion of fingers and wrists. The liver was enlarged after the age of 3 years. Two patients had mild mitral and tricuspid valve stenosis and one had severe aortic stenosis. The most severely affected child died at 3 1/2 years of age of airway obstruction as a result of progressive tracheal narrowing. Lysosomal storage vacuoles were found in skin epithelial cells from three patients whose skin was examined, and in the tracheal mucosa, liver, cartilage and macrophages of the child who died. The basic defect of this autosomal recessive lysosomal storage disease remains to be determined.
 ...
PMID:Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. 201 43

The factors associated with survival in 40 neonates (age less than 28 days) with critical aortic stenosis undergoing either open (22 patients) or closed (18 patients) transventricular aortic valvotomy were reviewed. Significant adverse correlates with survival included evidence of poor perfusion preoperatively (low pH, greater than Grade 2/6 soft ejection systolic murmur) and marked congestive heart failure (hepatomegaly, cardiomegaly, elevated left atrial pressure). Congenital mitral stenosis (anulus less than 11 mm), a small aortic anulus (less than 6.5 mm), and failure to achieve an adequate aortic orifice (greater than 6 mm), at operation were identified as factors associated with increased mortality. Initial perioperative survival was better with closed aortic valvotomy. However, there was no significant difference in overall operative survival between closed (9/18, 50%) and open (8/22, 36%) aortic valvotomy (p = 0.26). The incidence of early reoperation (less than 1 year of age) was greater in perioperative survivors undergoing closed valvotomy (7/13, 54%) rather than open valvotomy (1/10, 10%) (p less than 0.05). In conclusion, long-term survival among patients with critical neonatal aortic valve stenosis remains disturbingly low (13/40, 32%) and has not significantly improved over the past 20 years.
 ...
PMID:Critical aortic stenosis. Survival and management. 365 53

From 1963 through 1991, 1037 patients underwent reoperative valvular procedures. The 478 patients having reoperations for either failed bioprosthetic (n = 212) or mechanical (n = 266) valves were evaluated. There were 210 male (44%) and 268 female (56%) patients. The mean age at reoperation of the patients in the bioprosthesis group was 59.7 years and and that in the mechanical valve group was 56.1 years (p = 0.0006). The mean interval to the time of reoperation was 84.7 months in the mechanical valve group and 74 months in the bioprosthesis group. There was no difference between the two groups in the functional class at reoperation. More severe mitral valve stenosis and incompetence, more severe aortic valve stenosis, and higher right ventricular and pulmonary arterial pressures were noted in the bioprosthesis group than in the mechanical valve group. Hemolysis (p = 0.05) was more prevalent in the patients with mechanical valves than in the ones with bioprostheses. A longer aortic occlusion time (p = 0.0001) and longer cardiopulmonary bypass time (p = 0.0001) were required for the reoperations in the bioprosthesis group. The operative mortality was 13.2% for the bioprosthesis patients and 12.4% for the mechanical valve patients. The risk factors for hospital death included the cross-clamp time (p = 0.0001), the functional class (p = 0.00001), the presence of ascites (p = 0.02), hepatomegaly (p = 0.002), and decreasing ejection fraction (p = 0.05). We conclude that mechanical valve failures do not produce catastrophic events resulting in poor reoperative results.
 ...
PMID:Perioperative events in patients with failed mechanical and bioprosthetic valves. 764 11

The incidence of heart failure in octogenarians is high and its diagnosis not always easy. In many cases it is made by excess or by omission. Obtaining a history is often difficult. Signs may be masked, false or indicative of another disease process. Dyspnea, edema of the lower limbs and crepitations are relatively non-specific. Jugular distension, tender hepatomegaly and a diastolic gallop are much more valuable. Diagnosis of the underlying etiology also raises problems. While hypertension is commonplace and easy to identify, ischemic heart disease is common and often missed. Tight aortic stenosis must be identified since its treatment is surgical. Hypertrophic cardiomyopathy is often an echocardiographic discovery. Post-embolic chronic cor pulmonale, or secondary to chronic obstructive lung disease, must always be considered in the presence of right heart failure without hypertension or chest pain. Appropriate treatment is dependent upon accurate diagnosis.
 ...
PMID:[Difficulties in the diagnosis of cardiac insufficiency in octogenarians]. 782 52

Congenital aortic stenosis accounts for about 5% of cardiac malformations recognized in childhood. It belongs to the category of acyanotic congenital heart disease. These lesions produce a load on the heart because of left ventricular outflow tract obstruction. Severe aortic stenosis in the newborn period (critical aortic stenosis) presents with signs of left sided heart failure (pulmonary edema, poor perfusion), right sided heart failure (hepatomegaly, peripheral edema) and may progress rapidly to total circulatory collapse. We present a case of an infant with critical aortic stenosis presenting with cyanosis, who was entirely dependent on ductal patency for systemic output. When oxygen was given, the ductus started to close, with a worsening of the left sided output and subsequent acidosis. With the right to left shunt across the ductus, the baby was cyanotic and dependent on prostaglandin to keep the ductus open. There was minimal flow across the aortic valve because of the stenosis and extremely poor left ventricular function prior to surgery. After relief of the aortic valvular obstruction, there was finally good antegrade flow across the aortic valve, terminating cyanosis.
 ...
PMID:One day old infant with acyanotic congenital heart disease: critical aortic stenosis. 1056 81

Left ventricular hypertrophy (LVH) is primarily or secondarily caused by a cardiovascular or systemic disease. The pattern of LVH is distinctive in hypertrophic or metabolic cardiomyopathy and differs from that seen in LVH caused by hypertension or aortic stenosis. A 42-year-old Japanese man had LVH similar to that with hypertrophic cardiomyopathy. The patient was diagnosed with glycogen storage disease type IIIa (GSD-IIIa). Echocardiography showed that he had severe LVH, and concomitant hepatomegaly and hypoglycemia, which led to measurement of glycogen debranching enzyme (GDE) activity; it was undetectable. Sequence analysis of the AGL gene encoding GDE showed a novel nonsense mutation: a C-to-T transition at codon 285 in exon 8, resulting in substitution of the arginine codon by the stop codon (R285X). The patient was homozygous for the mutation. Cardiomyopathy in this patient was caused by a nonsense mutation in the AGL gene. Five other Japanese GSD-IIIa patients over 30 years of age have all presented with cardiomyopathy, as well as hepatomegaly and hypoglycemia. Patients with LVH associated with hepatomegaly and hypoglycemia should undergo biochemical and genetic analyses for GSD-IIIa.
 ...
PMID:A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene. 1789 67