[Takotsubo Syndrome: experience in three institutions of Cordoba City]. / Síndrome de Takotsubo: experiencia en tres instituciones de la ciudad de Córdoba.

Takotsubo Syndrome is an acquired cardiomyopathy characterized by a transient left ventricular antero-apical asynergy or disynergy (apical ballooning), symptoms and electrocardiographic changes are suggestive of an acute coronary syndrome, moderate cardiac enzymatic release and absence of significant atherosclerotic lesions in coronary arteries. It predominantly affects postmenopausal women and it is frequently preceded by situations of physical or psychological stress. The physiopathology is not completely understood but there is consensus that it is triggered by a surge of catecholamines consequent to the aforementioned stress conditions. The study of 32 cases diagnosed at three medical institutions in Córdoba, Argentina, is reported. The mean age was 61 years, and 28 were female. All cases simulated acute coronary syndromes. Congestive heart failure developed in twelve cases (37.5%) and two patients (6.3%) developed cardiogenic shock. The left ventricular function normalized more rapidly than the electrocardiographic changes. The recurrence rate was 25%, the prognosis was benign considering that only one death occurred following a relapse. In general the findings are similar to previously published studies. Recent advances in the comprehension of the physiopathology of this cardiomyopathy gave way to the development of a rational therapeutic approach.

Síndrome de Takotsubo: experiencia en tres instituciones de la ciudad de Córdoba / Takotsubo Syndrome: experience in three institutions of Cordoba City

Takotsubo es una miocardiopatía adquirida que se caracteriza por la aparición transitoria de acinesia o discinesia antero-apical del ventrículo izquierdo, síntomas y cambios electrocardiográficos que simulan un síndrome coronario agudo, leve elevación de enzimas cardíacas y coronarias sin lesiones ateroscleróticas significativas. Afecta predominantemente a mujeres post menopáusicas y frecuentemente es precedido por situaciones de estrés físico o psicológico. La fisiopatología no ha sido completamente dilucidada pero existe consenso sobre el papel central de la descarga masiva de catecolaminas, secundaria a dichas situaciones de estrés, como mecanismo desencadenante. Se presentan 32 casos diagnosticados en tres instituciones de Córdoba. La edad promedio fue 61 años, el 28 (88%) fueron mujeres, y todos se presentaron simulando síndromes coronarios agudos. Doce pacientes (37.5%) evolucionaron con insuficiencia cardíaca y dos (6%) desarrollaron shock cardiogénico. La función ventricular se normalizó más rápidamente que los cambios electrocardiográficos. La tasa de recurrencia fue del 25%. El pronóstico fue benigno, ya que solo se produjo una muerte como consecuencia de una recidiva. Estos hallazgos son, en general, similares a los publicados en la literatura. También se analizaron recientes progresos sobre la fisiopatología de esta miocardiopatía que permitieron desarrollar un planteo racional de tratamiento.(AU)

Takotsubo Syndrome is an acquired cardiomyopathy characterized by a transient left ventricular antero-apical asynergy or disynergy (apical ballooning), symptoms and electrocardiographic changes are suggestive of an acute coronary syndrome, moderate cardiac enzymatic release and absence of significant atherosclerotic lesions in coronary arteries. It predominantly affects postmenopausal women and it is frequently preceded by situations of physical or psychological stress. The physiopathology is not completely understood but there is consensus that it is triggered by a surge of catecholamines consequent to the aforementioned stress conditions. The study of 32 cases diagnosed at three medical institutions in Córdoba, Argentina, is reported. The mean age was 61 years, and 28 were female. All cases simulated acute coronary syndromes. Congestive heart failure developed in twelve cases (37.5%) and two patients (6.3%) developed cardiogenic shock. The left ventricular function normalized more rapidly than the electrocardiographic changes. The recurrence rate was 25%, the prognosis was benign considering that only one death occurred following a relapse. In general the findings are similar to previously published studies. Recent advances in the comprehension of the physiopathology of this cardiomyopathy gave way to the development of a rational therapeutic approach.(AU)

Síndrome de Takotsubo: experiencia en tres instituciones de la ciudad de Córdoba / Takotsubo Syndrome: experience in three institutions of Cordoba City

Takotsubo es una miocardiopatía adquirida que se caracteriza por la aparición transitoria de acinesia o discinesia antero-apical del ventrículo izquierdo, síntomas y cambios electrocardiográficos que simulan un síndrome coronario agudo, leve elevación de enzimas cardíacas y coronarias sin lesiones ateroscleróticas significativas. Afecta predominantemente a mujeres post menopáusicas y frecuentemente es precedido por situaciones de estrés físico o psicológico. La fisiopatología no ha sido completamente dilucidada pero existe consenso sobre el papel central de la descarga masiva de catecolaminas, secundaria a dichas situaciones de estrés, como mecanismo desencadenante. Se presentan 32 casos diagnosticados en tres instituciones de Córdoba. La edad promedio fue 61 años, el 28 (88%) fueron mujeres, y todos se presentaron simulando síndromes coronarios agudos. Doce pacientes (37.5%) evolucionaron con insuficiencia cardíaca y dos (6%) desarrollaron shock cardiogénico. La función ventricular se normalizó más rápidamente que los cambios electrocardiográficos. La tasa de recurrencia fue del 25%. El pronóstico fue benigno, ya que solo se produjo una muerte como consecuencia de una recidiva. Estos hallazgos son, en general, similares a los publicados en la literatura. También se analizaron recientes progresos sobre la fisiopatología de esta miocardiopatía que permitieron desarrollar un planteo racional de tratamiento.

Takotsubo Syndrome is an acquired cardiomyopathy characterized by a transient left ventricular antero-apical asynergy or disynergy (apical ballooning), symptoms and electrocardiographic changes are suggestive of an acute coronary syndrome, moderate cardiac enzymatic release and absence of significant atherosclerotic lesions in coronary arteries. It predominantly affects postmenopausal women and it is frequently preceded by situations of physical or psychological stress. The physiopathology is not completely understood but there is consensus that it is triggered by a surge of catecholamines consequent to the aforementioned stress conditions. The study of 32 cases diagnosed at three medical institutions in Córdoba, Argentina, is reported. The mean age was 61 years, and 28 were female. All cases simulated acute coronary syndromes. Congestive heart failure developed in twelve cases (37.5%) and two patients (6.3%) developed cardiogenic shock. The left ventricular function normalized more rapidly than the electrocardiographic changes. The recurrence rate was 25%, the prognosis was benign considering that only one death occurred following a relapse. In general the findings are similar to previously published studies. Recent advances in the comprehension of the physiopathology of this cardiomyopathy gave way to the development of a rational therapeutic approach.

Síndrome de Takotsubo: experiencia en tres instituciones de la ciudad de Córdoba. / [Takotsubo Syndrome: experience in three institutions of Cordoba City].

Takotsubo Syndrome is an acquired cardiomyopathy characterized by a transient left ventricular antero-apical asynergy or disynergy (apical ballooning), symptoms and electrocardiographic changes are suggestive of an acute coronary syndrome, moderate cardiac enzymatic release and absence of significant atherosclerotic lesions in coronary arteries. It predominantly affects postmenopausal women and it is frequently preceded by situations of physical or psychological stress. The physiopathology is not completely understood but there is consensus that it is triggered by a surge of catecholamines consequent to the aforementioned stress conditions. The study of 32 cases diagnosed at three medical institutions in Córdoba, Argentina, is reported. The mean age was 61 years, and 28 were female. All cases simulated acute coronary syndromes. Congestive heart failure developed in twelve cases (37.5

) and two patients (6.3

) developed cardiogenic shock. The left ventricular function normalized more rapidly than the electrocardiographic changes. The recurrence rate was 25

, the prognosis was benign considering that only one death occurred following a relapse. In general the findings are similar to previously published studies. Recent advances in the comprehension of the physiopathology of this cardiomyopathy gave way to the development of a rational therapeutic approach.

Clinical findings in 32 patients with 22qll.2 microdeletion attended in the city of Córdoba, Argentina.

The 22q11.2 microdeletion is the most common deletion syndrome, with a prevalence of 1/4000-1/6000 among newborn infants and a wide phenotypic variability. The diagnosis of the 22q11.2 microdeletion is made through cytogenetics or fuorescence in situ hybridization (FISH). The objectives of this article were to describe the clinical features of 32 patients with 22q11.2 microdeletion and the fndings of other chromosomal abnormalities and genetic syndromes in phenotypically similar patients. This series was made up of 268 patients with clinical criteria supporting the diagnostic suspicion attended at the Hospital de Niños and Hospital Privado, of Córdoba, between March 1st, 2004 and August 31st, 2011. The following parameters were analyzed: age at the time of the diagnosis, sex, clinical manifestations, and mortality. Thirty-two patients (19 males and 13 females) had a positive result for this deletion. The diagnosis was made mostly in their frst months and years of life (age range: 7 days old-31 years old). The clinical manifestations were: congenital heart diseases (22/32), thymic hypoplasia-agenesis/ recurrent infections (10/32), velopalatal insuffciency (8/32). Five patients died; four due to a complication associated with their cardiovascular disease and one due to multiple organ failure. The clinical manifestations of the syndrome were varied.

Clinical fndings in 32 patients with 22qll.2 microdeletion attended in the city of Córdoba, Argentina / Hallazgos clínicos en 32 pacientes con microdeleción 22q11.2 asistidos en la ciudad de Córdoba, Argentina

The 22q11.2 microdeletion is the most common deletion syndrome, with a prevalence of 1/4000-1/6000 among newborn infants and a wide phenotypic variability. The diagnosis of the 22q11.2 microdeletion is made through cytogenetics or fuorescence in situ hybridization (FISH). The objectives of this article were to describe the clinical features of 32 patients with 22q11.2 microdeletion and the fndings of other chromosomal abnormalities and genetic syndromes in phenotypically similar patients. This series was made up of 268 patients with clinical criteria supporting the diagnostic suspicion attended at the Hospital de Niños and Hospital Privado, of Córdoba, between March 1st, 2004 and August 31st, 2011. The following parameters were analyzed: age at the time of the diagnosis, sex, clinical manifestations, and mortality. Thirty-two patients (19 males and 13 females) had a positive result for this deletion. The diagnosis was made mostly in their frst months and years of life (age range: 7 days old-31 years old). The clinical manifestations were: congenital heart diseases (22/32), thymic hypoplasia-agenesis/ recurrent infections (10/32), velopalatal insuffciency (8/32). Five patients died; four due to a complication associated with their cardiovascular disease and one due to multiple organ failure. The clinical manifestations of the syndrome were varied.(AU)

La microdeleción 22q11.2 es la más frecuente, afecta a 1/4000 a 1/6000 recién nacidos y tiene amplia variabilidad fenotípica. El diagnóstico se realiza por citogenética o hibridación in situ fuorescente (FISH). Los objetivos del presente trabajo fueron describir las características clínicas de 32 pacientes con microdeleción 22q11.2, y los hallazgos de otras anomalías cromosómicas y síndromes genéticos en pacientes fenotípicamente similares. La serie estuvo compuesta por 268 pacientes que tenían criterios clínicos de sospecha diagnóstica asistidos en los hospitales de Niños y Privado de Córdoba, desde el 1 de marzo de 2004 hasta el 31 de agosto de 2011. Se analizaron: edad en el momento del diagnóstico, sexo, manifestaciones clínicas y mortalidad. Resultaron positivos para esta deleción, 32 pacientes (19 varones y 13 mujeres). El diagnóstico se realizó mayoritariamente en los primeros meses y años de vida (rango etario: 7 días a 31 años). Clínica: cardiopatías congénitas (22/32), hipoplasia-agenesia-tímica/ infecciones recurrentes (10/32); hipotonía velopalatina (8/32). Cinco murieron, cuatro por complicación de su patología cardiovascular y uno por falla multisistémica. La expresividad clínica de la enfermedad fue variable.(AU)

Clinical fndings in 32 patients with 22qll.2 microdeletion attended in the city of Córdoba, Argentina / Hallazgos clínicos en 32 pacientes con microdeleción 22q11.2 asistidos en la ciudad de Córdoba, Argentina

The 22q11.2 microdeletion is the most common deletion syndrome, with a prevalence of 1/4000-1/6000 among newborn infants and a wide phenotypic variability. The diagnosis of the 22q11.2 microdeletion is made through cytogenetics or fuorescence in situ hybridization (FISH). The objectives of this article were to describe the clinical features of 32 patients with 22q11.2 microdeletion and the fndings of other chromosomal abnormalities and genetic syndromes in phenotypically similar patients. This series was made up of 268 patients with clinical criteria supporting the diagnostic suspicion attended at the Hospital de Niños and Hospital Privado, of Córdoba, between March 1st, 2004 and August 31st, 2011. The following parameters were analyzed: age at the time of the diagnosis, sex, clinical manifestations, and mortality. Thirty-two patients (19 males and 13 females) had a positive result for this deletion. The diagnosis was made mostly in their frst months and years of life (age range: 7 days old-31 years old). The clinical manifestations were: congenital heart diseases (22/32), thymic hypoplasia-agenesis/ recurrent infections (10/32), velopalatal insuffciency (8/32). Five patients died; four due to a complication associated with their cardiovascular disease and one due to multiple organ failure. The clinical manifestations of the syndrome were varied.

La microdeleción 22q11.2 es la más frecuente, afecta a 1/4000 a 1/6000 recién nacidos y tiene amplia variabilidad fenotípica. El diagnóstico se realiza por citogenética o hibridación in situ fuorescente (FISH). Los objetivos del presente trabajo fueron describir las características clínicas de 32 pacientes con microdeleción 22q11.2, y los hallazgos de otras anomalías cromosómicas y síndromes genéticos en pacientes fenotípicamente similares. La serie estuvo compuesta por 268 pacientes que tenían criterios clínicos de sospecha diagnóstica asistidos en los hospitales de Niños y Privado de Córdoba, desde el 1 de marzo de 2004 hasta el 31 de agosto de 2011. Se analizaron: edad en el momento del diagnóstico, sexo, manifestaciones clínicas y mortalidad. Resultaron positivos para esta deleción, 32 pacientes (19 varones y 13 mujeres). El diagnóstico se realizó mayoritariamente en los primeros meses y años de vida (rango etario: 7 días a 31 años). Clínica: cardiopatías congénitas (22/32), hipoplasia-agenesia-tímica/ infecciones recurrentes (10/32); hipotonía velopalatina (8/32). Cinco murieron, cuatro por complicación de su patología cardiovascular y uno por falla multisistémica. La expresividad clínica de la enfermedad fue variable.

Clinical findings in 32 patients with 22qll.2 microdeletion attended in the city of Córdoba, Argentina. / Clinical findings in 32 patients with 22qll.2 microdeletion attended in the city of Córdoba, Argentina.

The 22q11.2 microdeletion is the most common deletion syndrome, with a prevalence of 1/4000-1/6000 among newborn infants and a wide phenotypic variability. The diagnosis of the 22q11.2 microdeletion is made through cytogenetics or fuorescence in situ hybridization (FISH). The objectives of this article were to describe the clinical features of 32 patients with 22q11.2 microdeletion and the fndings of other chromosomal abnormalities and genetic syndromes in phenotypically similar patients. This series was made up of 268 patients with clinical criteria supporting the diagnostic suspicion attended at the Hospital de Niños and Hospital Privado, of Córdoba, between March 1st, 2004 and August 31st, 2011. The following parameters were analyzed: age at the time of the diagnosis, sex, clinical manifestations, and mortality. Thirty-two patients (19 males and 13 females) had a positive result for this deletion. The diagnosis was made mostly in their frst months and years of life (age range: 7 days old-31 years old). The clinical manifestations were: congenital heart diseases (22/32), thymic hypoplasia-agenesis/ recurrent infections (10/32), velopalatal insuffciency (8/32). Five patients died; four due to a complication associated with their cardiovascular disease and one due to multiple organ failure. The clinical manifestations of the syndrome were varied.

Stenting of aortic coarctation: acute, intermediate, and long-term results of a prospective multi-institutional registry--Congenital Cardiovascular Interventional Study Consortium (CCISC).

INTRODUCTION: Since the 1980s, stent implantation has evolved as an important therapeutic strategy for coarctation of the aorta. However, available data is frequently flawed by short follow-up, lack of adequate follow-up imaging, and retrospective nature of data collection. METHODS: Data was prospectively collected using a multicenter registry congenital cardiovascular interventional study consortium (CCISC). Between 2000 and 2009, 302 patients from 34 centers with a median weight of 58 kg underwent stent implantation for coarctation. Eligible patients (44%) completed intermediate follow-up (3-18 months) with integrated imaging (cath, CT, MRI), whereas 21% completed long-term follow-up (>18-60 months). Procedural success was defined as UL/LL systolic gradient of less than 20 mm Hg, lack of significant recurrent obstruction, and freedom from unplanned repeat intervention. RESULTS: Acute procedural success was 96%. Cumulative intermediate success was 86%, and cumulative long-term success was 77%. Unplanned repeat interventions were required in 4%, and aortic wall complications were seen in 1% of patients (dissection n = 1 and aneurysm n = 3). Other adverse events (n = 15) occurred mainly acutely and included technical complications such as stent malposition (n = 9). At long-term follow-up, 23% of patients continued to have systolic blood pressure above the 95th centile, 9% had an upper-to-lower limb blood pressure gradient in excess of 20 mm Hg, and 32% were taking antihypertensive medication. CONCLUSIONS: This study documented acute, intermediate, and long-term outcome data comparable or superior with other surgical or interventional series. However, even with successful initial stent therapy, patients continue to require long-term follow-up and have associated long-term morbidity, relating to aortic wall complications, systemic hypertension, recurrent obstruction as well as need for repeat intervention.

Utilización del "balón con cuchillas" para ampliación de comunicación interauricular restrictiva en lactantes menores de 6 meses: resultados inmediatos y a mediano plazo / Blade Balloon Septostomy to Enlarge a Restrictive Atrial Septal Defect in Infants under 6 Months: Immediate and Medium-Term Outcomes

Los pacientes con cardiopatías congénitas complejas requieren con cierta frecuencia una comunicación interauricular no restrictiva para mantener una saturación de oxígeno arterial y un gasto cardíaco adecuados. En este trabajo se describen seis pacientes menores de 6 meses con cardiopatías congénitas cianóticas graves, en los cuales se realizó dilatación de una comunicación interauricular restrictiva utilizando un balón con cuchillas. Se presentan los resultados inmediatos y a mediano plazo. En todos los pacientes se logró un incremento importante y duradero del tamaño del defecto interauricular y una mejoría clínica sostenida posprocedimiento. Se resalta la utilización de la ecocardiografía intraprocedimiento para guiar y evaluar los resultados. Consideramos que, utilizada con cautela en casos seleccionados, la ampliación de una CIA restrictiva con balón con cuchillas en lactantes menores de 6 meses es una alternativa segura y eficaz, con resultados satisfactorios. La monitorización ecocardiográfica es muy importante para el éxito del procedimiento.

A nonrestrictive atrial septal defect is mandatory in order to maintain adequate arterial oxygen saturation and cardiac output in patients with complex congenital heart defects. We describe six patients under 6 months with severe cyanotic congenital heart defects in whom blade balloon septostomy was performed to enlarge a restrictive atrial septal defect. Immediate and medium-term outcomes are presented. The procedure was successful in all patients, producing a larger and long-lasting atrial septal defect and sustained clinical improvement. The use of intraprocedure echocardiography to guide and evaluate the results is highlighted. We consider that balloon septostomy is a safe and effective option to enlarge a restrictive ASD in carefully selected cases in infants less than 6 months old, with satisfactory outcomes. Echocardiography guidance is very important to warrant success of the procedure.

Cardiovascular findings, and clinical course, in patients with Williams syndrome.

AIMS: We investigated the incidence and outcome of cardiac malformations in 53 patients with Williams syndrome. METHODS AND RESULTS: The mean age, and period of follow-up, were 3.6 and 5.3 years, with standard deviations of 4.0 and 5.6 years, respectively. Of the patients, 45 (85%) had cardiovascular anomalies, often combined. Males presented earlier than females, at the ages of 2.1 years, with standard deviation of 2.8 years, as opposed to 4.5 years, with standard deviation of 4.2 years (p < 0.01). Supravalvar aortic stenosis occurred in 32 patients (71%), pulmonary arterial stenosis in 17 (38%), and mitral valvar prolapse in 12 (27%), 9 of these having regurgitant valves. Pulmonary valvar stenosis, ventricular septal defect, coarctation of the aorta, persistent patency of the arterial duct, hypertrophic cardiomyopathy, and subaortic stenosis all occurred less frequently. In 21 patients (47%), 24 surgical or catheter interventions had been made, most often for repair of supravalvar aortic stenosis, undertaken on 16 occasions with just one recurrence, and in 4 along with surgery to the mitral valve. Other lesions requiring intervention were pulmonary valvar stenosis, pulmonary arterial stenosis, coarctation of the aorta, and subaortic stenosis. We lost 3 patients (7%), with severe supravalvar aortic stenosis and moderate or severe mitral regurgitation, 2 early and one late after surgery. CONCLUSION: The most frequent cardiovascular anomalies in Williams syndrome were supravalvar aortic stenosis, pulmonary arterial stenosis, and mitral valvar prolapse, which occurred more frequently in our patients than previously observed. Patients with left ventricular pressure and volume overload were at greater risk.

Clinical features of hypertrophic cardiomyopathy in the young.

BACKGROUND: We analysed the experience with hypertrophic cardiomyopathy in two paediatric centres to establish the differences from older patients. METHODS: Out of 45 young patients seen from 1974 to 1999, we included 38. Criterions for exclusion were secondary forms, or association with severe congenital cardiac disease which could alter the outcome. RESULTS: The patients presented at the age of 5.7 years, and were followed for 7.0 years. The 34 patients referred because of a murmur or cardiomegaly were older than the four with heart failure, presenting at 6.2 as opposed to 2.1 years of age, p = 0.08. Of the patients, 29 (76%) had primary cardiomyopathy, while 9 (24%) had secondary forms associated with Noonan's and LEOPARD syndromes. Familial tendency was ascertained in 7 patients (18%). The septal thickness in mm/m2 at presentation was greater in patients under 2 years than in older children (29 vs 18, p = 0.02). Obstructive hypertrophic cardiomyopathy was found in 17 patients (45%), with six of these having mild associated congenital cardiac defects. Nine had symptomatic arrhythmias. Overall, treatment was medical in 31, with DDD pacing used in 5, and surgery, radiofrequency ablation, and transplantation in one patient each. Total mortality was 24%, at a rate of 4.3% per year. Four patients died in heart failure and 5 had sudden death. Those in failure were significantly younger (p = 0.01). CONCLUSIONS: Hypertrophic cardiomyopathy in the young is characterized by referral for murmur or heart failure; frequent secondary forms; the obstructive variant being as common as the non-obstructive form; a mortality rate similar to that for adults attending tertiary centres; and less frequent familial forms than in older populations.