Holt-Oram syndrome revisited. Two patients in the same family

Holt-Oram syndrome was first described in 1960 as an association of familial heart disease and musculoskeletal abnormalities. The most important findings include atrial septal defects, atrioventricular conduction abnormalities, vascular hypoplasia, and upper limb musculoskeletal deformities. We report two patients with this syndrome in the same family and discuss the variability of the musculoskeletal abnormalities and their association with the cardiac morphologic defects. Both patients in this study had associated eosinophilia, which has not been reported in the literature.

Absence of the aortic valve associated with hypoplastic left-sided heart syndrome

In this report we describe the twelveth case in the literature of absence of the aortic valve cusps, associated with hypoplastic left-sided heart syndrome in a neonate. Clinical and hemodynamic conditions in our patient resemble the classical features of this syndrome except for a greater development of the ascending aorta and the left ventricular cavity, due to aortic insufficiency. A patch was unsuccessfully inserted at the aortic annulus to exclude the left ventricle from the circulation. In addition the Norwood operation was performed.

Safety and efficacy of angioplasty with intracoronary stenting in patients with unstable coronary syndromes. Comparison with stable coronary syndromes

OBJECTIVE: To assess safety and efficacy of coronary angioplasty with stent implantation in unstable coronary syndromes. METHODS: Retrospective analysis of in-hospital and late evolution of 74 patients with unstable coronary syndromes (unstable angina or infarction without elevation of the ST segment) undergoing coronary angioplasty with stent placement. These 74 patients were compared with 31 patients with stable coronary syndromes (stable angina or stable silent ischemia) undergoing the same procedure. RESULTS: No death and no need for revascularization of the culprit artery occurred in the in-hospital phase. The incidences of acute non-Q-wave myocardial infarction were 1.4% and 3.2% (p=0.6) in the unstable and stable coronary syndrome groups, respectively. In the late follow-up (11.2±7.5 months), the incidences of these events combined were 5.7% in the unstable coronary syndrome group and 6.9% (p=0.8) in the stable coronary syndrome group. In the multivariate analysis, the only variable with a tendency to significance as an event predictor was diabetes mellitus (p=0.07; OR=5.2; 95% CI=0.9-29.9). CONCLUSION: The in-hospital and late evolutions of patients with unstable coronary syndrome undergoing angioplasty with intracoronary stent implantation are similar to those of the stable coronary syndrome group, suggesting that this procedure is safe and efficacious when performed in unstable coronary syndrome patients.

Arrhythmogenic cardiomyopathy of the right ventricle. Predictive value of QT interval dispersion to assess arrhythmogenic risk and sudden death

OBJECTIVE: To determine in arrhythmogenic right ventricular cardiomyopathy the value of QT interval dispersion for identifying the induction of sustained ventricular tachycardia in the electrophysiological study or the risk of sudden cardiac death. METHODS: We assessed QT interval dispersion in the 12-lead electrocardiogram of 26 patients with arrhythmogenic right ventricular cardiomyopathy. We analyzed its association with sustained ventricular tachycardia and sudden cardiac death, and in 16 controls similar in age and sex. RESULTS: (mean ± SD). QT interval dispersion: patients = 53.8±14.1ms; control group = 35.0±10.6ms, p=0.001. Patients with induction of ventricular tachycardia: 52.5±13.8ms; without induction of ventricular tachycardia: 57.5±12.8ms, p=0.420. In a mean follow-up period of 41±11 months, five sudden cardiac deaths occurred. QT interval dispersion in this group was 62.0±17.8, and in the others it was 51.9±12.8ms, p=0.852. Using a cutoff > or = 60ms to define an increase in the degree of the QT interval dispersion, we were able to identify patients at risk of sudden cardiac death with a sensitivity of 60%, a specificity of 57%, and positive and negative predictive values of 25% and 85%, respectively. CONCLUSION: Patients with arrhythmogenic right ventricular cardiomyopathy have a significant increase in the degree of QT interval dispersion when compared with the healthy population. However it, did not identify patients with induction of ventricular tachycardia in the electrophysiological study, showing a very low predictive value for defining the risk of sudden cardiac death in the population studied.

Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)

Total generalized lipodystrophy (Berardinelli--Seip Syndrome) is a rare hereditary disease characterized by insulin-resistant diabetes mellitus and a small quantity of adipose tissue and is of unknown origin. Common cardiovascular alterations related to this syndrome are cardiac hypertrophy and arterial hypertension. This article reports a case of Berardinelli--Seip syndrome and reviews the literature with special emphasis on the cardiovascular manifestations of this syndrome.

Cantrell Syndrome. Case report of an adult

Cantrell syndrome is characterized by defects that involve the diaphragm, abdominal wall, pericardium, heart, and lower region of the sternum. It is a rare entity, usually diagnosed at birth and accompanied by high mortality due to the complexity and gravity of the anomalies. In this report, we present a 32-year-old male patient, who was diagnosed in infancy but who reached adult age asymptomatic.

Cardiac findings in 31 patients with Noonan's syndrome

OBJECTIVE: To evaluate cardiac findings in 31 Noonan syndrome patients. METHODS: Thirty-one (18 males and 13 females)patients from 26 families affected with Noonan's syndrome were evaluated from the cardiac point of view with electrocardiography and echodopplercardiography. RESULTS: Twenty patients had some type of cardiac abnormality. The most frequent was pulmonary valve stenosis followed by hypertrophic myocardiopathy, commonly associated with valve defects. Upper deviation of the QRS axis was observed in 80% of these patients. CONCLUSION: In view of the high frequency and diversity of cardiac abnormalities present in Noonan syndrome, cardiac evaluation with electrocardiography and echocardiography should be performed in all patients diagnostically suspected of having this disease.

Trends in death from circulatory diseases in Brazil between 1979 and 1996

OBJECTIVE: To analyze the trends in mortality due to circulatory diseases in men and women aged > or = 30 years in Brazil from 1979 to 1996. METHODS: We analyzed population count data obtained from the IBGE Foundation and mortality data obtained from the System of Information on Mortality of the DATASUS of the Ministry of Health. RESULTS: Circulatory diseases, ischemic heart disease, and cerebrovascular disease were the major causes of death in men and women in Brazil. The standardized age coefficient for circulatory disease in men aged > or = 30 years ranged from 620 to 506 deaths/100,000 inhabitants and in women from 483 to 383 deaths/100,000 inhabitants for the years 1979 and 1996, respectively. In men, the mean coefficient for the period was 586.25 deaths with a significant trend towards a decrease (P<0.001) and a decline of 8.25 deaths/year. In women, the mean coefficient for the period was 439.58 deaths, a significant trend towards a decrease (P<0.001) and a rate of decline of 7.53 deaths/year. The same significant trend towards a decrease in death (P<0.001) was observed for ischemic heart disease and cerebrovascular disease. Risk of death from these causes was always higher for men of any age group (P<0.001). Cerebrovascular disease was the primary cause of death in women. CONCLUSION: Although circulatory diseases have been the major cause of mortality in men and women in the Brazilian population, with a greater participation by cerebrovascular diseases, a trend towards a decrease in the risk of death from these causes is being observed.

Uhl's anomaly. Differential diagnosis and indication for cardiac transplantation in an infant

We report the case of an 8-month-old female infant with Uhl's anomaly, who underwent successful cardiac transplantation. The clinical findings, complementary laboratory tests, anatomic findings, and differential diagnosis of the anomaly are discussed.

Vascular disease modeling using induced pluripotent stem cells: Focus in Hutchinson-Gilford Progeria Syndrome

Transparency document related to this article can be found online at http://dx.doi.org/10.1016/j.bbrc.2015.10.014

Cardiovascular assessment of patients with Ullrich-Turner's Syndrome on Doppler echocardiography and magnetic resonance imaging

OBJECTIVE: To assess the cardiovascular features of Ullrich-Turner's syndrome using echocardiography and magnetic resonance imaging, and to correlate them with the phenotype and karyotype of the patients. The diagnostic concordance between the 2 methods was also assessed. METHODS: Fifteen patients with the syndrome were assessed by echocardiography and magnetic resonance imaging (cardiac chambers, valves, and aorta). Their ages ranged from 10 to 28 (mean of 16.7) years. The karyotype was analyzed in 11 or 25 metaphases of peripheral blood lymphocytes, or both. RESULTS: The most common phenotypic changes were short stature and spontaneous absence of puberal development (100%); 1 patient had a cardiac murmur. The karyotypes detected were as follows: 45,X (n=7), mosaics (n=5), and deletions (n=3). No echocardiographic changes were observed. In regard to magnetic resonance imaging, coarctation and dilation of the aorta were found in 1 patient, and isolated dilation of the aorta was found in 4 patients. CONCLUSION: The frequencies of coarctation and dilation of the aorta detected on magnetic resonance imaging were similar to those reported in the literature (5.5% to 20%, and 6.3% to 29%, respectively). This confirmed the adjuvant role of magnetic resonance imaging to Doppler echocardiography for diagnosing cardiovascular alterations in patients with Ullrich-Turner's syndrome.

Mother's stress, mood and emotional involvement with the infant: 3 months before and 3 months after childbirth

Adverse effects of maternal anxiety and depression are well documented, namely on the foetus/child behaviour and development, but not as much attention has been given to the mother's emotional involvement with the offspring. To study mother's prenatal and postpartum stress, mood and emotional involvement with the infant, the State-Trait Anxiety Inventory, the Edinburgh Postnatal Depression Scale and the Mother-to-Infant Bonding Scale were filled in and cortisol levels were measured, 3 months before and 3 months after childbirth, in a sample of 91 Portuguese women. From pregnancy to the postpartum period, mother's cortisol levels, anxiety and emotional involvement toward the child decrease. No significant change was observed regarding mother's depression. Mother's depression predicted a worse emotional involvement before childbirth, while mother's anxiety predicted a worse emotional involvement with the infant after childbirth. Additionally, pregnant women with a worse emotional involvement with the offspring are at risk of poorer emotional involvement with the infant and higher anxiety and depression at 3 months postpartum. It should be given more attention to mother's poor emotional involvement with the offspring during pregnancy, as it interferes with her emotional involvement with the infant and her psychological adjustment 3 months after childbirth.

Mother-to-infant emotional involvement at birth

Objectives. To study mother-to-infant emotional involvement at birth, namely factors (socio-demographics, previous life events, type of delivery, pain at childbirth, support from partner, infant characteristics, early experiences with the newborn, and mother’s mood) that interfere with the mother’s positive, negative and not clear emotions toward the newborn. Methods. The Bonding Scale (an extended Portuguese version of the ‘New Mother-to-Infant Bonding Scale’) and the Edinburgh Postnatal Depression Scale were administrated during the first after delivery days to 315 mothers recruited at Ju´lio Dinis Maternity Hospital (MJD, Porto, Portugal). Results. A worse emotional involvement with the newborn was observed when the mother was unemployed, unmarried, had less than grade 9, previous obstetrical/psychological problems or was depressed, as well as when the infant was female, had neonatal problems or was admitted in the intensive care unit. Lower total bonding results were significantly predicted when the mother was depressed and had a lower educational level; being depressed, unemployed and single predicted more negative emotions toward the infant as well. No significant differences in the mother-to-infant emotional involvement were obtained for events related to childbirth, such as type of delivery, pain and partner support, or early experiences with the newborn; these events do not predict mother’s bonding results either. Conclusion. The study results support the need for screening and supporting depressed, unemployed and single mothers, in order to prevent bonding difficulties with the newborn at birth.