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PubMed2001

Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene.

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by cyst formation in the kidney, liver, and pancreas and is associated often with cardiovascular abnormalities such as hypertension, mitral valve prolapse, and intracranial aneurysms. It is caused by mutations in PKD1 or PKD2, encoding polycystin-1 and -2, which together form a cell surface nonselective cation ion channel. Pkd2-/- mice have cysts in the kidney and pancreas and defects in cardiac septation, whereas Pkd1(del34) -/- and Pkd1(L) -/- mice have cysts but no cardiac abnormalities, although vascular fragility was reported in the latter. Here we describe mice carrying a targeted mutation in Pkd1 (Pkd1(del17-21betageo)), which defines its expression pattern by using a lacZ reporter gene and may identify novel functions for polycystin-1. Although Pkd1(del17-21betageo) +/- adult mice develop renal and hepatic cysts, Pkd1(del17-21betageo) -/- embryos die at embryonic days 13.5-14.5 from a primary cardiovascular defect that includes double outflow right ventricle, disorganized myocardium, and abnormal atrio-ventricular septation. Skeletal development is also severely compromised. These abnormalities correlate with the major sites of Pkd1 expression. During nephrogenesis, Pkd1 is expressed in maturing tubular epithelial cells from embryonic day 15.5. This expression coincides with the onset of cyst formation in Pkd1(del34) -/-, Pkd1(L) -/-, and Pkd2-/- mice, supporting the hypothesis that polycystin-1 and polycystin-2 interact in vivo and that their failure to do so leads to abnormalities in tubule morphology and function.

Animals↗
PubMed1986

Variable relationship between peripheral somatic and autonomic neuropathy in patients with different syndromes of diabetic polyneuropathy.

The relationship between abnormal peripheral nerve electrophysiology and abnormal cardiovascular autonomic function has been studied in four groups of diabetic subjects, comparable with regard to age, duration, and type of diabetes. Thirty-three had no symptoms of neuropathy, 28 had newly developed painful neuropathy, 24 had chronic painful neuropathy, and 21 had painless neuropathy with associated recurrent foot ulcers. In all three symptomatic groups, electrophysiology and autonomic function were more abnormal than in asymptomatic diabetic subjects. There was a significant overall relationship between peripheral nerve (electrophysiologic) and autonomic (cardiovascular reflex) dysfunction. However, when considered by groups, the degree of cardiovascular reflex abnormality was similar in the three symptomatic groups, whereas electrophysiology was appreciably worse in the foot ulcer group than in patients with painful neuropathy. Thus, patients with painful neuropathy had a higher ratio of autonomic (small fiber) abnormality to electrophysiologic (large fiber) abnormality. By contrast, foot ulceration was associated with the worst electrophysiologic (large fiber) abnormality. Heavier alcohol consumption and more severe retinopathy were also related to foot ulceration. In diabetic subjects with symmetrical sensory neuropathy, the relationship between large fiber and small fiber damage is not uniform. We conclude that there may be different etiologic influences on large and small fiber neuropathy in diabetic subjects and that the predominant type of fiber damage may determine the form of the presenting clinical syndrome.

Adult↗
PubMed2006

A deficiency in the region homologous to human 17q21.33-q23.2 causes heart defects in mice.

Several constitutional chromosomal rearrangements occur on human chromosome 17. Patients who carry constitutional deletions of 17q21.3-q24 exhibit distinct phenotypic features. Within the deletion interval, there is a genomic segment that is bounded by the myeloperoxidase and homeobox B1 genes. This genomic segment is syntenically conserved on mouse chromosome 11 and is bounded by the mouse homologs of the same genes (Mpo and HoxB1). To attain functional information about this syntenic segment in mice, we have generated a 6.9-Mb deletion [Df(11)18], the reciprocal duplication [Dp(11)18] between Mpo and Chad (the chondroadherin gene), and a 1.8-Mb deletion between Chad and HoxB1. Phenotypic analyses of the mutant mouse lines showed that the Dp(11)18/Dp(11)18 genotype was responsible for embryonic or adolescent lethality, whereas the Df(11)18/+ genotype was responsible for heart defects. The cardiovascular phenotype of the Df(11)18/+ fetuses was similar to those of patients who carried the deletions of 17q21.3-q24. Since heart defects were not detectable in Df(11)18/Dp(11)18 mice, the haplo-insufficiency of one or more genes located between Mpo and Chad may be responsible for the abnormal cardiovascular phenotype. Therefore, we have identified a new dosage-sensitive genomic region that may be critical for normal heart development in both mice and humans.

Animals↗
PubMedDate not supplied

Thromboembolic infarcts occurring after mild traumatic brain injury in a paediatric patient with Noonan's syndrome.

Noonan's syndrome is a genetic concurrence of multiple morphological abnormalities typified by short stature, webbed neck, cardiovascular abnormalities, and characteristic facies. Numerous neurological conditions have also been associated with Noonan's syndrome, including cerebrovascular pathology. This paper describes the case of a 15-year-old female on our paediatric rehabilitation service who, in a motor vehicle accident, suffered a mild traumatic brain injury (TBI) which was followed by multiple thromboembolic infarcts of the posterior circulation. Full work-up resulted in the diagnosis of Noonan's syndrome and the demonstration of significant posterior circulation congenital anomalies. Traumatic vasculopathy, superimposed on the developmentally hypoplastic posterior vessels, was suggested as an aetiology of this patient's stroke. A review of the limited literature associating thromboembolic infarcts with antecedent TBI, and linking Noonan's syndrome to various neurological problems, is discussed. This paediatric rehabilitation case represents a fascinating new association between thromboembolic infarcts and TBI in the setting of a previously undiagnosed genetic syndrome.

Adolescent↗
PubMed2004

[Multiple brain infarctions in a young patient with Buerger's disease. A case report of cerebral thromboangiitis obliterans].

We report a 46-year-old woman with Buerger's disease who presented vascular dementia. In her early thirties, she began to feel cold sensation and pain in the lower extremities and later developed Raynaud's phenomenon in the upper extremities. The diagnosis of Buerger's disease was established on the basis of angiographic findings which showed the obstruction of peripheral vessels in both anterior tibial arteries. She was admitted to our hospital because of a transient attack of left brachial monoparesis and two episodes of epileptic seizure with progressive cognitive impairment for preceding five years. Neurological examination revealed acalculia, constructional apraxia, recent memory disturbance, and hyperreflexia of the left limbs without motor disturbance. Brain MRI revealed multiple infarctions mainly located in the border zone territories of the major cerebral arteries. Conventional angiography failed to detect abnormalities of cerebral vessels. She had no cardiovascular abnormality or coagulopathy. Cerebrovascular complications, so-called cerebral thoromboangiitis obliterans (CTAO), occur approximately in 2% of patients with Buerger's disease. CTAO has two types. Type 1 is associated with large artery changes and type 2 is associated with medium and small artery changes. Patients with type 2 CTAO usually have multiple infarcts in the cerebral arterial border zones and may develop progressive cognitive decline without motor deficit. Her clinical features are compatible with type 2 CTAO. While CTAO is a relatively rare manifestation of Buerger's disease, it should be suspected in cases of Buerger's disease in association with cognitive impairment of unknown onset.

Cerebral Infarction↗
PubMed2003

What cardiovascular defect does my prenatal mouse mutant have, and why?

Since the advent of mouse targeted mutations, gene traps, an escalating use of a variety of complex transgenic manipulations, and large-scale chemical mutagenesis projects yielding many mutants with cardiovascular defects, it has become increasingly evident that defects within the heart and vascular system are largely responsible for the observed in utero lethality of the embryo and early fetus. If a transgenically altered embryo survives implantation but fails to be born, it usually indicates that there is some form of lethal cardiovascular defect present. A number of embryonic organ and body systems, including the central nervous system, gut, lungs, urogenital system, and musculoskeletal system appear to have little or no survival value in utero (Copp, 1995). Cardiovascular abnormalities include the failure to establish an adequate yolk-sac vascular circulation, which results in early lethality (E8.5-10.5); poor cardiac function (E9.0-birth); failure to undergo correct looping and chamber formation of the primitive heart tube (E9.0-11.0); improper septation, including division of the common ventricle and atria and the establishment of a divided outflow tract (E11.0-13.0); inadequate establishment of the cardiac conduction system (E12.0-birth); and the failure of the in utero cardiovascular system to adapt to adult life (birth) and close the interatrial and aorta-pulmonary trunk shunts that are required for normal fetal life. Importantly, the developmental timing of lethality is usually a good indicator of both the type of the cardiovascular defect present and may also suggest the possible underlying cause/s. The purpose of this review is both to review the literature and to provide a beginner's guide for analysing cardiovascular defects in mouse mutants.

Animals↗
PubMed1999

Nitric oxide, salt sensitivity, and cardiorenal injury in hypertension.

A connection between salt sensitivity and hypertension seems certain, but a number of issues remain unresolved, e.g., the mechanisms involved in salt sensitivity, its role in pathogenesis and/or maintenance of hypertension, and its ability to predict cardiorenal risk. The role of nitric oxide (NO) has been studied extensively. Evidence shows that NO, along with the vasoactive substances angiotensin II and endothelin-1, is important in modulating vascular tone. In addition, imbalances among these substances may participate in the abnormal cardiovascular and renal remodeling that occurs in hypertension. What causes such imbalances remains unclear. Animal studies show that in salt-sensitive subjects, the activity of NO synthase (NOS) fails to upregulate in response to increases in blood pressure, but that such activity upregulates rapidly in similar circumstances in non-salt-sensitive subjects. Human studies of essential hypertensives have shown an association between salt sensitivity and a number of conditions, including impaired endothelium-dependent relaxation mediated by NO, insulin resistance, microalbuminuria, and ventricular hypertrophy and cardiovascular events. These findings have intriguing implications in regard to whether, in hypertension, salt sensitivity might be a marker of increased cardiovascular and renal risk that is linked to abnormalities in the bioactivity of NO.

Adaptation, Physiological↗
PubMed1987

Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases.

We have observed two types of paucity of interlobular bile ducts (PILBD) in children with chronic cholestasis: the syndromic type, which is more frequent (80 cases), and the nonsyndromic type (31 cases). Study of patients with syndromic PILBD has enabled us to recognize five major features: peculiar facies (95%), chronic cholestasis (91%), posterior embryotoxon (88%), butterfly-like vertebral arch defects (87%), and peripheral pulmonary artery hypoplasia or stenosis, either isolated or associated with complex cardiovascular abnormalities (85%). By observing these major features, it is possible to differentiate the "complete" syndrome, in which all five features are present (26 cases), from the "partial" syndrome, in which only four (42 cases) or three (12 cases) major features are present. Other less frequent features were observed in patients with complete or partial syndrome: growth retardation (50%), mental retardation (16%), renal disturbances, other vascular malformations, bone abnormalities, high-pitched voice, and delayed puberty. Death occurred in 21 (26%) patients with syndromic PILBD. Therapy consisted of supplementation of medium-chain triglycerides and fat-soluble vitamins and administration of cholestyramine or phenobarbital. An autosomal dominant mode of transmission, with variable penetrance, seems likely.

Bile Ducts, Intrahepatic↗
PubMed1988

Sauna bather's circulation.

Cutaneous circulation increases greatly in sauna in order to prevent body heating. Blood pressure tends to fall but this is prevented by increased cardiac output by means of faster heart rate and by decreased blood flow to the visceral organs. Cooling in cold air, shower, water or rolling in snow causes rapid cutaneous vasoconstriction, which leads to elevation of arterial blood pressure and increase of central venous blood volume. The effects of both heat and cold are mediated via the sympathetic nervous system. The circulatory responses to sauna are related to the intensity and duration of the heat exposure. An ordinary sauna bath increases cardiac workload about as much as moderate or vigorous walking. Habituation to sauna decreases the sympathetic stimulation and cardiovascular responses. Sudden cooling, for example diving in cold water, causes a severe transitory volume load and pressure load to the heart and increases the possibility of cardiac arrhythmias. The risk of cardiovascular complications in correctly practiced sauna bathing is very small and it is confined to subjects predisposed to the risk because of manifest or latent cardiovascular abnormalities.

Blood Circulation↗
PubMed2002

Cardiac structural involvement in mucopolysaccharidoses.

Mucopolysaccharidoses (MPS) are lysosomal storage disorders due to impaired glycosaminoglycan degradation. Cardiac involvement is present in most patients with MPS although its clinical impact is still undetermined. Cardiovascular abnormalities were evaluated in 39 patients with MPS aged 4-22 years. Valvular lesions and different forms of cardiac involvement were detected. The most common lesion was thickening of the mitral valve with regurgitation or stenosis, regardless of the MPS type. Mitral valve thickening was observed in 23 patients, aortic valve thickening in 11 patients and congestive heart failure in only 1 patient with MPS III. The most severe changes were registered for MPS types I and II. Complete cardiological investigation should be routinely warranted in every patient inflicted with MPS.

Adolescent↗
PubMed1993

Kawasaki disease.

Kawasaki disease is an acute vasculitis of young children that is complicated by the development of myocarditis and coronary artery abnormalities. Recent studies indicate that the prevalence of cardiovascular abnormalities can be significantly reduced by treating patients during the first 10 days of illness with high-dose intravenous gammaglobulin, particularly at a dose of 2 g/kg. Thus, early recognition and prompt treatment of this illness is critical for a successful outcome. This process would undoubtedly be facilitated if the etiologic agent or toxin that causes Kawasaki disease were known. In this regard, studies of the past year strongly suggest that a superantigen plays an important role in stimulating the massive immune activation associated with this illness. These observations may provide an important new direction for investigations into the etiology and pathogenesis of Kawasaki disease.

Humans↗
PubMed2001

Valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature.

Fetal Valproate Syndrome (FVS) results from prenatal exposure to valproic acid (VPA). It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies, and central nervous system dysfunction. In this study, two siblings who were exposed to monotherapy with VPA are described with documentation of long-term follow up. Both children had craniofacial findings, multiple systemic and orthopedic abnormalities, an overgrowth pattern, and developmental deficits. The literature from 1978-2000 is reviewed. A total of 69 cases that were solely exposed to VPA with adequate phenotypic description were identified. The clinical manifestations of FVS encompass a wide spectrum of abnormalities including consistent facial phenotype, multiple systemic and orthopedic involvement, central nervous system dysfunction, and altered physical growth. The facial appearance is characterized by a small broad nose, small ears, flat philtrum, a long upper lip with shallow philtrum, and micro/retrognathia. In this review, 62% of the patients had musculoskeletal abnormalities, 30% had minor skin defects, 26% had cardiovascular abnormalities, 22% had genital abnormalities, and 16% had pulmonary abnormalities. Less frequently encountered abnormalities included brain, eye, kidney, and hearing defects. Neural tube defects were seen in 3% of the sample. Twelve percent of affected children died in infancy and 29% of surviving patients had developmental deficits/mental retardation. Although 15% of patients had growth retardation, an overgrowth pattern was seen in 9%. The data from this comprehensive review especially the developmental outcome should be added to the teratogenic risk, that arises in association with the use of VPA during pregnancy.

Abnormalities, Drug-Induced↗
PubMed2005

Hurler's disease.

Hurler's disease, also known as mucopolysaccharidoses 1H, an autosomal recessive disease due to enzyme alpha-iduronidase deficiency has generally a spectrum of findings involving the eye, skeletal abnormality, organomegaly, joint stiffness, hernia, mental retardation and cardiovascular abnormalities. The two cases presented here are related to each other as brother of 9 years age and sister of 7 years of age with their parents had consanguineous marriage. On ocular examination in both the cases there was dense bilateral corneal opacities. Glycosaminoglycan's level was found to be 4 mg/mmol cr in the first case and 5 mg/mmol cr in the second case. In the first case no ocular treatment was planned and in the second case penetrating keratoplasty was the choice of management.

Child↗
PubMed1995

Cardiovascular manifestations of pediatric HIV infection.

Infection with human immunodeficiency virus (HIV) has become a major pediatric health concern in the United States and around the world. Pediatric HIV infection is a multisystem illness that presents an ongoing challenge to practicing nurses. Most clinical cardiovascular diseases in children with HIV have been underreported, and often are clinically occult. The preclinical detection of cardiovascular abnormalities results in early therapeutic interventions and reduces cardiovascular morbidity and mortality. Cardiovascular involvement is important in the natural history and prognosis of HIV infection.

Adolescent↗
PubMed1997

Evidence of functional and structural cardiac abnormalities in cirrhotic patients with and without ascites.

Cirrhosis is associated with cardiovascular abnormalities. Scanty information is available as to whether these include left ventricle diastolic dysfunction and wall thickness increase. To this aim in 27 cirrhotic patients with tense ascites, 17 cirrhotic patients with previous episodes of ascites (not actual), and 11 controls we investigated by echocardiography and echocolor Doppler left ventricle diastolic function (E wave, A wave, E/A ratio, deceleration time of E wave), systolic function (ejection fraction), and wall thickness (left ventricle posterior wall thickness + interventricular septum thickness) along with neurohumoral variables. All measurements (supine position) were repeated after total paracentesis (10.7 +/- 0.6 L of ascites) in ascitic patients. Both in patients with and without ascites E/A ratio was reduced as compared with controls (0.93 +/- 0.07 and 0.97 +/- 0.06 vs. 1.18 +/- 0.08, P < .05) while left ventricle wall thickness was increased (18.6 +/- 0.6 and 20.1 +/- 0.8 vs. 17.2 +/- 0.7, P < .05 and P < .01, respectively), irrespective of the postviral or alcoholic cause of liver disease. In all cirrhotics both right and left atrial and right ventricle diameters were significantly greater. Ejection fraction was slightly but significantly (P < .01) reduced in ascitic patients. Paracentesis induced a reduction of the highly increased basal plasma renin activity, aldosterone, norepinephrine (P < .01), and epinephrine (P < .05) and improved diastolic function (E/A, P < .05). Systolic function was unaffected. Thus, irrespective of ascites and cause, advanced cirrhosis is associated with left ventricle diastolic dysfunction and wall thickness increase. We can speculate that neurohumoral overactivity, known to stimulate cardiac tissue growth, may challenge the heart, promoting fibrosis and exerting a further hindrance to ventricular relaxation in patients with cirrhosis experiencing episodes of ascites.

Aged↗
PubMed2006

Fetal abnormalities leading to termination of singleton pregnancy: the 7-year experience of a single medical center.

OBJECTIVE: To assess the distribution of fetal indications leading to termination of pregnancy (TOP) in our institute. METHODS: All pregnant women with singleton pregnancies who underwent TOP due to fetal abnormalities in our institute between January, 1998 and December, 2004 were divided between early TOP (<23 weeks' gestation) and late TOP (> or =23 weeks' gestation). RESULTS: There were 328 (71%) and 134 (29%) early and late TOPs, respectively. The TOPs were performed at a mean gestational age of 20.1 +/- 4.8 weeks. The groups varied significantly in the indications for TOP (p = 0.04), which were primarily structural abnormalities (mostly CNS) followed by chromosomal/genetic defects. Fetal structural abnormalities were more common in the late TOP group (62.7% vs 54.2%) while chromosomal-genetic defects were more common in the early TOP group (40% vs 29.1%, respectively). Fetal infection (mostly cytomegalovirus) was similar ( approximately 4%) for both groups. The early TOP group had significantly more hydrops, gastrointestinal, face and neck abnormalities, while the late TOP group had significantly more cardiovascular abnormalities (p < 0.01). CONCLUSIONS: The impact of early chromosomal/genetic screening contributes to early TOPs, while midgestation anomaly and cardiac scanning significantly contribute to late TOPs. Fetal infection contributes equally to both categories of TOPs.

Abortion, Eugenic↗