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PubMedDate not supplied

Autosomal recessive form of congenital cutis laxa: more than the clinical appearance.

Congenital cutis laxa is an uncommon disorder of generalized elastolysis. The clinical picture is characterized by inelastic, loose, hanging skin that gives the appearance of premature aging. The disease is inherited most commonly in a severe autosomal recessive form, or as a relatively benign, autosomal dominant form. There is often systemic organ involvement in patients with the autosomal recessive form. Cardiopulmonary abnormalities are common and mainly determine the prognosis and life expectancy. Pulmonary emphysema, cor pulmonale, and right-sided heart failure generally caused by pulmonary disease are often seen in infancy. Various cardiovascular abnormalities including aortic aneurysm, pulmonary artery multiple branch stenosis have been reported in patients with this form of congenital cutis laxa. We report a 10-month-old boy with the autosomal recessive form of congenital cutis laxa who had pulmonary valve stenosis. To the best of our knowledge, this is the first case of this association to be reported in the English language literature. We also emphasize the systemic complications that may be associated with congenital cutis laxa.

Cutis Laxa↗

PubMed2005

Efficacy of fetal echocardiography and an evaluation of indications.

UNLABELLED: Fetal echocardiography has been accepted as a prenatal noninvasive diagnostic tool of cardiovascular diseases in fetuses for more than three decades. There are limited data in Thailand. A retrospective study of prenatal, natal and postnatal data of pregnant women who had fetal echocardiography at Siriraj Hospital, Bangkok, Thailand, from January 1999 to July 2005 was conducted. In total, there were 117 pregnant women who had fetal echocardiography under standard indications. Median age of pregnant women was 30.2 (17.3-44.2) years old. Median gestational age at the first fetal echocardiography was 29 (17-40) weeks. Median number of time the women had fetal echocardiography was 1 (1-10). Indications for fetal echocardiography were; obstetricians suspected of fetal cardiovascular diseases, multiple anomalies, family history of congenital heart diseases, chromosome anomalies, hydrops fetalis, and other indications (53.8%, 12%, 11.1%, 8.5%, 8.5% and 6.0% respectively). There were 49 (41.8%) cases who had abnormal cardiovascular problems, i.e., structural heart diseases 26 cases, rhythm disturbance 15 cases, and cardiac masses 8 cases. Upon comparison with postnatal echocardiography and/or autopsy findings, fetal echocardiography had a sensitivity of 96.9%, specificity of 90.6%, and accuracy of 92.8%. There was various degrees of risk to have cardiovascular problems for each of the indication taking fetal echocardiography and postnatal data into consideration. Fetal echocardiography had an impact on the management in 57.3% of cases. CONCLUSION: Fetal echocardiography is a reliable prenatal diagnostic tool for cardiovascular problems with high accuracy and has an impact on the management at prenatal, natal and postnatal period. Different indications for fetal echocardiography have an effect on the relative risk of fetal cardiovascular diseases.

Adolescent↗

PubMed1994

Vagal dysfunction and impaired urinary sodium and water excretion in cirrhosis.

OBJECTIVE: To evaluate the possible role of vagal impairment in the disturbances of urinary sodium and water excretion observed in cirrhosis. METHODS: Standard cardiovascular reflex tests were used to assess Autonomic function in 11 cirrhotic patients, and the response to an acute intravenous water load was determined. Changes in plasma noradrenaline, antidiuretic hormone, renin, and atrial natriuretic peptide also were evaluated. RESULTS: Patients with vagal dysfunction were shown to have significantly impaired urinary sodium and water excretion, compared with those whose cardiovascular tests were normal (5-h urinary sodium excretion, 32.3 +/- 9.0 vs. 69.4 +/- 12.7 mmol, p < 0.05; % water load excreted at 5 h, 67.8 +/- 10.5 vs. 109.2 +/- 3.67%, p < 0.008). This was associated with higher circulating noradrenaline, renin, and antidiuretic hormone levels after the water load in the vagal dysfunction group. Urinary sodium excretion correlated with the heart rate variation on deep breathing (r = 0.74, p < 0.013) and the heart rate response to atropine (r = 0.75, p < 0.020); the % water load excreted correlated with the number of abnormal cardiovascular tests in each patient (rS = 0.67, p < 0.02). Although patients with vagal abnormalities had worse liver function, urinary sodium and water excretion correlated better with parasympathetic tests than with standard parameters of hepatic function. CONCLUSIONS: The presence of vagal impairment in cirrhosis appears to be associated with impaired urinary sodium and water excretion, as well as disturbances in circulating vasoactive hormones. These findings could be due to an afferent defect resulting in diminished inhibitory input from intrathoracic volume and arterial baroreceptors, although a confounding effect of worse hepatic function in patients with vagal impairment cannot be excluded.

Atrial Natriuretic Factor↗

PubMed1989

Double aortic arch associated with esophageal atresia and tracheoesophageal fistula.

Esophageal atresia (EA) with tracheoesophageal fistula (TEF) is commonly associated with significant cardiovascular anomalies. Mortality is higher with cardiovascular abnormalities, especially those undiagnosed prior to surgical repair of the EA/TEF. Advances in cardiac imaging techniques, most notably echocardiography, have made noninvasive evaluation of the heart and great vessels easy to perform and reliable. Thus, the preoperative cardiovascular anatomy of these infants should be routinely assessed prior to surgical correction. A case of EA/TEF associated with an unsuspected double aortic arch is described. Although a wide variety of cardiovascular lesions have been associated with EA/TEF, coexistence of a double aortic arch has not been previously reported. Preoperative recognition of this anomaly would have altered the surgical approach, and perhaps reduced the postoperative morbidity and mortality.

Abnormalities, Multiple↗

PubMedDate not supplied

Preparticipation cardiovascular screening for US collegiate student-athletes.

CONTEXT: Sudden death in young competitive athletes due to unsuspected cardiovascular disease has heightened interest in preparticipation screening. OBJECTIVE: To assess screening practices for detecting potentially lethal cardiovascular diseases in college-aged student-athletes. DESIGN, SETTING, AND PARTICIPANTS: A total of 1110 National Collegiate Athletic Association member colleges and universities were surveyed between 1995 and 1997, with 879 (79%) responding to the questionnaire. MAIN OUTCOME MEASURES: Information on the administration and scope of the preparticipation screening process was obtained from the team physician or athletic director; preparticipation screening forms were evaluated for content and compared with 12 items recommended by the 1996 American Heart Association (AHA) consensus panel screening guidelines. RESULTS: Preparticipation screening was a requirement at 855 (97%) of 879 schools, was performed on campus at 713 schools (81 %), and was required annually by 446 schools (51 %). Team physicians were responsible for examinations at 603 (85%) of 713 schools with on-campus screening, although 135 of these schools (19%) also approved nurse practitioners and 244 schools (34%) allowed athletic trainers to perform examinations. Of the history and physical examination screening forms analyzed from 625 institutions, only 163 schools (26%) had forms that contained at least 9 of the recommended 12 AHA screening guidelines and were judged to be adequate, whereas 150 (24%) contained 4 or fewer of these parameters and were considered to be inadequate. Smaller Division III schools were more likely than larger Division I schools to have inadequate screening forms (30% vs 14%; P<.001). Relevant items that were omitted from more than 40% of the screening forms included history of exertional chest pain, dyspnea, or fatigue; familial heart disease or premature sudden death; and physical stigmata or family history of Marfan syndrome. CONCLUSION: The preparticipation screening process used by many US colleges and universities may have limited potential to detect (or raise the suspicion of) cardiovascular abnormalities capable of causing sudden death in competitive student-athletes.

Adolescent↗

PubMed1994

Possible role of imprinting in the Turner phenotype.

We have attempted to investigate the role of imprinting in the phenotype of Turner's syndrome. Sixty-three patients were investigated for parental origin of the retained normal X chromosome; 43 were found to retain the maternal X (XM) and 20 the paternal (XP). The relationship between a child's pretreatment height centile and parental height centiles was examined in 36 patients. No significant correlation was found between child and parental height centiles for XP or child and paternal height centiles for XM (p > 0.05) but a strong correlation was found between child's height centile and maternal height centile (p < 0.01) for XM. Using pooled data from this and other studies there was no significant correlation with renal anomalies but a strong correlation between cardiovascular abnormalities and XM (0.01 > p > 0.001) and neck webbing and XM (p < 0.05). We conclude that imprinting may play a part in the Turner's syndrome phenotype, especially with respect to pretreatment height, cardiovascular anomalies, and neck webbing.

Female↗

PubMed1992

The effects of acute and chronic cocaine use on the heart.

It is clear that cocaine has cardiotoxic effects. Acute doses of cocaine suppress myocardial contractility, reduce coronary caliber and coronary blood flow, induce electrical abnormalities in the heart, and in conscious preparations increase heart rate and blood pressure. These effects will decrease myocardial oxygen supply and may increase demand (if heart rate and blood pressure rise). Thus, myocardial ischemia and/or infarction may occur, the latter leading to large areas of confluent necrosis. Increased platelet aggregability may contribute to ischemia and/or infarction. Young patients who present with acute myocardial infarction, especially without other risk factors, should be questioned regarding use of cocaine. As recently pointed out by Cregler, cocaine is a new and sometimes unrecognized risk factor for heart disease. Acute depression of LV function by cocaine may lead to the presence of a transient cardiomyopathic presentation. Chronic cocaine use can lead to the above problems as well as to acceleration of atherosclerosis. Direct toxic effects on the myocardium have been suggested, including scattered foci of myocyte necrosis (and in some but not all studies, contraction band necrosis), myocarditis, and foci of myocyte fibrosis. These abnormalities may lead to cases of cardiomyopathy. Left ventricular hypertrophy associated with chronic cocaine recently has been described. Arrhythmias and sudden death may be observed in acute or chronic use of cocaine. Miscellaneous cardiovascular abnormalities include ruptured aorta and endocarditis. Most of the cardiac toxicity with cocaine can be traced to two basic mechanisms: one is its ability to block sodium channels, leading to a local anesthetic or membrane-stabilizing effect; the second is its ability to block reuptake of catecholamines in the presynaptic neurons in the central and peripheral nervous system, resulting in increased sympathetic output and increased catecholamines. Other potential mechanisms of cocaine cardiotoxicity include a possible direct calcium effect leading to contraction of vessels and contraction bands in myocytes, hypersensitivity, and increased platelet aggregation (which may be related to increased catecholamine). The correct therapy for cocaine cardiotoxicity is not known. Calcium blockers, alpha-blockers, nitrates, and thrombolytic therapy show some promise for acute toxicity. Beta-Blockade is controversial and may worsen coronary blood flow. In patients who develop cardiomyopathy, the usual therapy for this entity is appropriate.

Adrenergic beta-Antagonists↗

PubMed1999

[Sudden death of clinically unknown origin. An overview of postmortem examinations in Japan].

To elucidate the possible causes of sudden unexpected deaths (SUD) in Japan, we over-viewed autopsy findings described in the Annual of the Pathological Autopsy Cases in Japan, Vol. 35-37, 1992-1994. A total of 313 cases of SUD of clinically unknown origin (age > = 5 year) were found among the 95,142 autopsy cases listed in the above compilation. The direct causes of death, if identified, were described with their incidences. When the direct cause was undetermined, the most dominant pathological finding was listed. The difference in age between identified and unidentified groups was also studied. In 225 (72%) out of 313 SUD, direct causes of death were clarified as follows: cardiovascular diseases in 140 (acute myocardial infarction in 75), pulmonary diseases in 32, cerebrovascular diseases in 17, and gastrointestinal or hepatic disease in 17 cases. Even among 88 cases whose direct causes of death were unclear, 55 had cardiovascular abnormalities including myocardial hypertrophy and ischemic changes. No life-threatening abnormalities were found in 23 SUD cases, most of whom were men in their forties or younger. This study indicates that autopsy is helpful to reveal the cause of SUD. It also suggests cardiovascular diseases are the leading causes of SUD of clinically unknown origin.

Autopsy↗

PubMed2002

Cardiac disease in diabetic patients with renal disease.

Patients with diabetes represent an increasing proportion of end-stage renal disease (ESRD) patients. Cardiovascular risk, already formidable among patients on dialysis, is significantly higher among those who also have diabetes. Diabetic ESRD patients are not only at higher risk of ischaemic events, but are also subject to haemodynamic overload, because of anaemia, hypertension, and arteriovenous dialysis connections. Mortality rates are also significantly higher in these patients. Hypertension and anaemia stand out as opportunities for intervention in these patients. Anaemia per se is associated with an increased risk of cardiovascular abnormalities, including left ventricular hypertrophy, and with an increased risk of mortality. The interplay of multiple risk factors in diabetic patients with ESRD demands a multidisciplinary approach for the early identification and management of cardiovascular risk factors--hypercholsterolaemia, hypertension, blood glucose and anaemia--in order to optimise outcomes in these patients.

Adult↗

PubMed1986

Magnetic resonance imaging of vascular rings.

This case report illustrates the ability of magnetic resonance imaging (MRI) to define the abnormal aortic anatomy associated with a vascular ring malformation. After a brief review of the clinical and pathologic aspects of vascular rings, the unique characteristics of MRI that make it particularly well suited for cardiovascular imaging are discussed. A comparison between MRI and other currently used imaging modalities emphasizes their differences and indicates some of the advantages of MRI of the cardiovascular system. We recommend MRI as the technique of choice for patients suspected of having a vascular ring and predict that MRI will play an important role in the diagnosis of cardiovascular abnormalities in the future.

Aorta, Thoracic↗

PubMed1985

Respiratory and psychiatric abnormalities in chronic symptomatic hyperventilation.

Many physicians believe that the hyperventilation syndrome is invariably associated with anxiety or undiagnosed organic disease such as asthma and pulmonary embolus, or both. Twenty one patients referred by specialist physicians with unexplained somatic symptoms and unequivocal chronic hypocapnia (resting end tidal Pco2 less than or equal to 4 kPa (30 mm Hg) on repeated occasions during prolonged measurement) were investigated. All but one complained of inability to take a satisfying breath. Standard lung function test results and chest radiographs were normal in all patients, but histamine challenge showed bronchial hyper-reactivity in two of 20 patients tested, and skin tests to common allergens were positive in three of 18. Ventilation-perfusion scanning was abnormal in a further three of 15 patients studied, with unmatched perfusion defects in two and isolated ventilation defects in one. None of the 21 had thyrotoxicosis, severe coronary heart disease, or other relevant cardiovascular abnormalities. Ten of the 21 patients were neurotic and suffered from chronic psychiatric disturbance characterised by anxiety, panic, and phobic symptoms. The remainder had no detectable psychiatric disorders but reported proportionately more somatic than anxiety symptoms. Severe hyperventilation can occur in the absence of formal psychiatric or detectable respiratory or other organic abnormalities. Asthma and pulmonary embolus must be specifically excluded.

Adult↗

PubMed1994

Circulatory and metabolic effects of anemia in hyperinsulinemic ovine fetuses.

Infants born to women with poorly controlled diabetes mellitus have an increased incidence of perinatal asphyxia, cardiovascular abnormalities, elevated catecholamines, and sudden fetal death. Although hyperinsulinemic fetuses of diabetic women often exhibit polycythemia, they may also develop anemia because of pregnancy- and/or delivery-related complications. Experimental fetal hyperinsulinemia results in cardiovascular changes and a surge in catecholamines. We hypothesized that reductions in fetal O2 availability via anemic hypoxia limits O2 transport and compromises the hemodynamically and metabolically stressed but compensated hyperinsulinemic fetus. Chronically catheterized fetuses receiving insulin (n = 9) or placebo (n = 5) for 48 h were rendered anemic by an isovolemic exchange transfusion. In the hyperinsulinemic state, anemic-hypoxia augmented the insulin-mediated surge in norepinephrine concentration and increases in blood flow to brain, heart, and adrenal glands. Insulin-related increase in the combined ventricular output was sustained during anemia. O2 delivery to the fetus decreased, extraction increased, and O2 uptake did not change. Regional O2 delivery to the brain, kidney, gastrointestinal tract, muscle, fat, pancreas, spleen, and carcass decreased. Hyperinsulinemic ovine fetus exposed to anemic hypoxia demonstrated an accentuated surge in norepinephrine, a sustained increase in the combined ventricular output, preservation of systemic O2 uptake, and compromised regional O2 delivery to certain vascular regions. We conclude that the hyperinsulinemic fetus was able to compensate for anemic hypoxia by increased or sustained regional vascular perfusion.

Anemia↗

PubMed1993

Cardiorespiratory responses to incremental exercise in patients with asbestos-related pleural thickening and normal or slightly abnormal lung function.

An increasing number of patients with asbestos exposure are being identified with pleural thickening (PT) alone, with little or no impairment in standard tests of lung function despite their frequent complaint of dyspnea. We have employed incremental cardiorespiratory exercise testing to evaluate the types and mechanisms of impairment in 23 such patients. All had normal lung fields on radiographic examinations and normal (group 1, n = 12) or minimally reduced (group 2A slight restriction, n = 5, group 2B, slight obstruction, n = 6), lung function. Excessive ventilation was common in all groups, but especially in group 2B. Abnormal dead space ventilation (VD/VT) was more frequent in groups 2A (4/5) and 2B (4/6) than in group 1 (3/12). It was associated with O2 desaturation in three patients in groups 2A and B. Cardiovascular abnormalities were rare (1/23). Excessive ventilation and dead space provide a basis for the symptom of dyspnea in these patients.

Adult↗

PubMed1980

The spectrum of cardiac defects in the Ehlers-Danlos syndrome, types I and III.

Nineteen patients with types I and III Ehlers-Danlos syndrome were hospitalized at our institution between 1973 and 1978. Chest roentgenogram, electrocardiogram, and echocardiogram were done; 11 patients underwent cardiac catheterization. Thirty-five cardiac or great vessel abnormalities were detected. Fifteen patients had nitral valve prolapse; six also had tricuspid valve prolapse. Dilatation of the aortic root or extasia of the sinuses of Valsalva, or both, occurred in six patients. Dilatation of the pulmonary artery and annulus caused pulmonary regurgitation in one patient. Congenital heart defects included bicuspid aortic valve (two), pulmonary valvular stenosis (one), ventricular septal defect (two), and an atrial septal defect (one). The apparent high prevalence of cardiovascular abnormalities in hospitalized patients with types I and III Ehlers-Danlos syndrome necessitates a careful cardiovascular evaluation. Conversely, Ehlers-Danlos syndrome types I and III should be excluded in patients with mitral or tricuspid valve prolapse, great vessel dilatation, and congenital heart defects.

Adolescent↗

PubMed2006

Monozygotic twins with Marfan's syndrome and ascending aortic aneurysm.

Marfan's syndrome is a hereditary connective tissue disease, in which cardiovascular abnormalities (especially aortic root dilatation) are the most important cause of morbidity and mortality. In this report, we describe two 24-year-old twins, with a history of surgery for lens subluxation and severe cardiovascular manifestations secondary to Marfan's syndrome. One of the twins suffered a type A aortic dissection, which required replacement of the ascending aorta, and the other twin had an aneurysmal dilatation of the ascending aorta (46mm) and was prescribed medical treatment with atenolol and periodic controls to detect the presence of a critical diameter (50mm) that would indicate the need for prophylactic surgery.

Adult↗

PubMed1998

Echocardiographic evidence for a direct effect of GH/IGF-I hypersecretion on cardiac mass and function in young acromegalics.

OBJECTIVE: The interpretation of echocardiographic abnormalities in acromegalic patients is complicated by non-specific age-related diseases, many of which are commoner in acromegaly. We have therefore investigated the cause-effect relationship between GH/IGF-I hypersecretion and precocious cardiovascular abnormalities in a series of young acromegalic patients. DESIGN: An open prospective study. PATIENTS: 20 acromegalic patients aged under 30 years, with normal blood pressure and glucose tolerance, and 20 age-matched control subjects. MEASUREMENTS: Cardiac morphological parameters and indices of systolic and diastolic function at rest were studied by Doppler echocardiography. RESULTS: Left ventricular mass (LVM) and LVM index (LVMi) were higher in acromegalics than in control subjects (215.0 +/- 15.4 g vs 140.8 +/- 8.5 g, P = 0.0002 and 109.8 +/- 5.9 g/m2 vs 82.1 +/- 3.7 g/m2, P = 0.0008, respectively), reaching values of left ventricular hypertrophy in 4 patients (20%). Both ejection fraction and fractional shortening were normal (66.4 +/- 2.1% vs 62.2 +/- 1.9% and 37.5 +/- 1.5% vs 35.8 +/- 1.3%, respectively), indicating normal left ventricular systolic function. Abnormalities of left and right diastolic ventricular filling were found, which consisted of an increased isovolumic relaxation time (99.2 +/- 2.7 ms vs 89.0 +/- 2.7 ms, P = 0.01) and impaired mitral and tricuspidal flow velocity curves. CONCLUSIONS: An increase in cardiac mass and subclinical biventricular diastolic dysfunction were observed in young acromegalic patients. These findings argue for a direct cause-effect relationship between GH/IGF-I hypersecretion and myocardial abnormalities, and indicate that careful cardiological evaluation is mandatory in all acromegalics, whatever their age.

Acromegaly↗

PubMed1998

Noninvasive, in utero imaging of mouse embryonic heart development with 40-MHz echocardiography.

BACKGROUND: The increasing number of transgenic and targeted mutant mice with embryonic cardiac defects has resulted in the need for noninvasive techniques to examine cardiac structure and function in early mouse embryos. We report the first use of a novel 40-MHz ultrasound imaging system in the study of mouse cardiac development in utero. METHODS AND RESULTS: Transabdominal scans of mouse embryos staged between 8.5 and 13.5 days of gestation (E8.5 to E13.5) were obtained in anesthetized mice. Atrial and ventricular contractions could be discerned from E9.5, and changes in cardiac morphology were observed from E9.5 to E13.5. Hyperechoic streaming patterns delineated flow through the umbilical, vitelline, and other major blood vessels. Diastolic and systolic ventricular areas were determined by planimetry of the epicardial borders, and fractional area change was measured as an index of contractile function. Significant increases in ventricular size were documented at each stage between E10.5 and E13.5, and the ability to perform serial imaging studies over 3 days of embryonic development is described. Finally, the detection of vascular cell adhesion molecule 1 (VCAM-1) homozygous null mutant embryos demonstrates the first example of noninvasive, in utero analysis of cardiac structure and function in a targeted mouse mutant. CONCLUSIONS: We used 40-MHz echocardiography to identify key elements of the early mouse embryonic cardiovascular system and for noninvasive dimensional analysis of developing cardiac ventricles. The ability to perform serial measurements and to detect mutant embryos with cardiac defects highlights the usefulness of the technique for investigating normal and abnormal cardiovascular development.

Animals↗

PubMed1997

[Office hypertension--early stage of hypertension. Epidemiology, causes and consequences].

The prevalence of office hypertension is approximately 20-25% of all untreated "hypertensives" identified in the doctor's office, i.e. in Germany some 3 million patients. During the following years a considerable proportion (50-75%) of patients with office hypertension will develop established hypertension. Office or white coat hypertension seems to represent a frequent prehypertensive state. Compared to normotensive controls patients with office hypertension exhibit abnormal regulation of systolic and diastolic blood pressure with a steeper early morning rise and a deeper nocturnal fall leading to a greater blood pressure amplitude (amplitude hypertension). Furthermore patients with office hypertension have functional cardiovascular abnormalities. The hemodynamic, functional and biochemical findings indicate abnormal baroreceptor sensitivity and increased sympathetic tone during the day. Office hypertension cannot be considered to be an innocent blood pressure variant. The identification of patients with office hypertension is of diagnostic, prognostic and therapeutic significance.

Adolescent↗