Acquired infundibular pulmonary stenosis associated with a congenital membranous ventricular septal defect (Gasul phenomenon) in a dog and discussion regarding causes of infundibular stenosis.

An aclinical Havanese dog was diagnosed with a membranous restrictive ventricular septal defect. The patient was represented later in their natural history due to the development of syncope. At that time the patient was diagnosed with acquired pulmonary infundibular stenosis. Balloon dilation of the stenosis was performed successfully twice over the patient's lifetime. The patient died suddenly approximately 14 months after the second balloon dilation. A discussion regarding primary infundibular pulmonary stenosis versus causes of acquired infundibular pulmonary stenosis including anomalous muscle bundles (double chamber right ventricle), tetralogy of Fallot, and infundibular stenosis is presented.

Disección de arteria vertebral secundaria a fractura tipo hangman / Vertebral artery dissection secondary to hangman's fracture

No disponible

Double-orifice mitral valve repair.

We present the case of a 6-year-old patient with double-orifice mitral valve and severe regurgitation, which was successfully repaired. We demonstrate that mitral valve repair may be attempted even in complex anatomy such as the double-orifice mitral valve, where it can offer excellent results.

Severe subvalvular pulmonic stenosis due to a ball-shaped accessory tissue in an asymptomatic woman with congenitally corrected transposition of great arteries and mesocardia: A rare case report.

Congenitally corrected transposition of great arteries (CCTGA) is a rare anomaly described by atrioventricular and ventriculoarterial discordance. On the other hand, mesocardia that is extremely rare includes two relatively well-defined apexes defined by each ventricle with the major axis of the heart lies in the midline. We describe a rare case of an asymptomatic 20-year-old woman with mesocardia, CCTGA, and severe subvalvular pulmonic stenosis due to a ball-shaped accessory tissue in left ventricular outflow tract.

Traqueobronquitis seudomembranosa y ulcerativa causada por Aspergillus fumigatus / Ulcerative pseudomembranous tracheobronchitis caused by Aspergillus fumigatus

No disponible

Isolated subpulmonic fibrous ring, mirror-image dextrocardia and situs solitus in a young lady unreported and a near miss.

Congenital diseases causing obstruction of the right ventricular outflow tract (RVOT) are common, but the isolated subpulmonary membrane/ring is extremely rare and can be difficult to diagnose precisely, especially in adults. We report a case of surgically resected isolated subpulmonic fibrous ring in a lady with mirror-image dextrocardia and abdominal situs solitus that was misdiagnosed by echocardiography as a subaortic membrane.

Amiloidosis traqueobronquial tratada con resección con láser endobronquial y prótesis en Y autoexpansible / Tracheobronchial Amyloidosis Treated by Endobronchial Laser Resection and Self Expanding Y Stent

El depósito de amiloide en el árbol traqueobronquial es una forma de presentación muy poco frecuente y supone alrededor del 1% de los tumores benignos de esta zona. Describimos aquí un caso de amiloidosis traqueobronquial primaria que obstruía casi por completo la parte distal de la tráquea y el bronquio principal izquierdo. Se realizó con éxito la extirpación de la masa mediante resección mecánica y coagulación con láser Nd-YAG utilizando una broncoscopia rígida. Posteriormente se implantó una prótesis en Y autoexpansible de nueva generación, para restablecer la permeabilidad de la vía aérea. Cinco meses después, los exámenes radiológico y broncoscópico mostraron la presencia de la prótesis en el lugar adecuado, con una permeabilidad normal del árbol traqueobronquial (AU)

Amyloid deposition in tracheobronchial tree is a rare presentation and counts about 1% of benign tumors in this area. Herein, we describe a case of primary tracheobronchial amyloidosis which obstructed almost completely the distal trachea and the main left bronchus. The mass was successfully resected by mechanical resection and Nd-YAG laser coagulation during rigid bronchoscopy. Afterwards, a self-expanding Y-stent of new generation was inserted to restore airway patency. Five months later, radiological and bronchoscopic findings showed the stent in site, with normal patency of the tracheo-bronchial tree (AU)

Ebstein's anomaly with subpulmonary obstruction--a rare association.

Ebstein's anomaly comprises a wide spectrum of congenital cardiac abnormalities involving the tricuspid valve (TV) apparatus and the architecture of the morphological right ventricle (RV). We report a case of Ebstein's anomaly in a 3-year-old boy having a unique association with severe subpulmonic obstruction caused by tethered and dysplastic anterior tricuspid leaflet (ATL), and a large ventricular septal defect. In view of poorly functioning RV, the baby was planned for a bidirectional Glenn shunt with subsequent Fontan completion.

Intervencionismo en las cardiopatías congénitas del adulto / Percutaneous intervention in adult congenital heart disease

No disponible

Alteraciones de los genes de la vía RAS-MAPK en 200 pacientes españoles con síndrome de Noonan y otros síndromes neurocardiofaciocutáneos. Genotipo y cardiopatía / Alterations in RAS-MAPK genes in 200 spanish patients with noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy

Introducción y objetivos. La caracterización molecular de cardiopatías incluye una entidad congénita no infrecuente, el síndrome de Noonan. Presentamos el estudio de seis genes de la vía RAS-MAPK en pacientes españoles: perfil genotípico, impacto de la cardiopatía y expresividad clínica. Métodos. Compusieron la población en estudio 643 pacientes (y 182 familiares) diagnosticados por dismorfólogos, cardiólogos y endocrinopediatras de 74 hospitales (11 comunidades). Estudio primario de PTPN11 y complementario de SOS1, RAF1, BRAF, KRAS y HRAS, estratificado y orientado por signos clínicos, mediante secuenciación de exones recurrentes (un 80-95% de mutaciones descritas). Resultados. Se documentó mutación en 230 pacientes (91 mujeres, 139 varones) de 200 familias (31%), 172 PTPN11 +, 14 SOS1 +, 9 RAF1 + y 5 BRAF +, con referencia explícita a la cardiopatía padecida en 156 casos índice; 103 presentaban estenosis de la válvula pulmonar; 12, estenosis de la válvula pulmonar y miocardiopatía hipertrófica; 18, miocardiopatía hipertrófica y 14, otra cardiopatía; en sólo 9 casos se encontraba ausente. En 23/30 familiares positivos no había o no constaba cardiopatía. El rendimiento diagnóstico fue superior (p = 0,016) para las muestras de algunos centros (53%; 14/32), y alcanzó el 64% (9/14; p = 0,019) en profesionales concretos. El rendimiento cayó al 18% en los pacientes sin datos clínicos facilitados. El dato genotípico reorientó el diagnóstico clínico en 26 pacientes. Conclusiones. El 94% de los pacientes portadores de mutación presentaban cardiopatía, el 79% estenosis de la válvula pulmonar y el 12% miocardiopatía hipertrófica. En el 76% de los familiares positivos con rasgos clínicos compatibles, no se había documentado la cardiopatía. El estudio molecular es una herramienta útil en estos síndromes, aunque debe progresarse en la objetivación del diagnóstico clínico (AU)

Introduction and objectives. Molecular characterization of congenital heart diseases now includes the not infrequent dysmorphic Noonan syndrome. A study of 6 genes of the RAS-MAPK pathway in Spanish patients is presented: the impact of heart disease, clinical expressivity, and diagnostic yield are investigated. Methods. The study included 643 patients (and 182 family members) diagnosed by dysmorphologists, cardiologists, and pediatric endocrinologists from 74 tertiary hospitals. Bidirectional sequencing analysis of PTPN11, SOS1, RAF1, BRAF, KRAS and HRAS focused on exons carrying recurrent mutations accounting for 80% to 95% of previously described mutations. Results. Mutations were detected in 230 patients (91 women and 139 men) in 200 (31%) families (172 PTPN11+, 14 SOS1+, 9 RAF1+, 5 BRAF+). There was specific reference to the heart defect suffered in 156 index cases: 103 patients had shown pulmonary stenosis, 12 pulmonary stenosis with hyperthrophic cardiomyopathy, 18 hypertrophic cardiomiopathy, and 14 other cardiopathies; heart disease was absent in 9 index cases. Heart disease had not been documented in 23 of 30 family members with positive genotype and compatible clinical signs. Diagnostic yield was higher (P=.016) for samples from some centers (53%; 14/32) and even from certain professionals (64%; 9/14; P=.019). Characterization rate was 18% in patients for whom clinical data were not available. Genotyping led to a more precise diagnosis in 26 patients. Conclusions. Most patients (94%) with a positive genotype had known congenital heart disease, 79% pulmonary stenosis and 12% hyperthrophic cardiomyopathy. Cardiopathy had not been documented in 76% of family members carrying the mutation. Molecular study is a useful tool in these syndromes but a more rigorous clinical diagnosis should be intended as well (AU)

Cardiopatía congénita con estenosis pulmonar y comunicaciones intracardiacas asociadas en adulto: tratamiento anestésico / Repair of congenital heart disease in an adult with septal defects and pulmonary stenosis: anesthetic management

Paciente varón de 66 años con malformaciones cardiacas congénitas complejas consistentes esquemáticamente en comunicación interacuricular con tabicación incompleta tipo cor triatriatum, aneurisma de septo membranoso con comunicación interventricular y estenosis de válvula pulmonar. Se indicó cirugía por disnea progresiva hasta hacerse de reposo. Se procede a inducción de la anestesia intentando no aumentar el cortocircuito. El procedimiento quirúrgico consistió en resecar la membrana de cor triatiatum, cerrar las comunicaciones con parches de pericardio, sustituir la válvula pulmonar y raíz por una raíz porcina y aneurismorrafía de la arteria pulmonar. Presentó depresión severa de la contractilidad en quirófano que precisó apoyo inotrópico con adrenalina y dobutamina. Posteriormente se extubó en reanimación sin más incidencias. Una ecografía de control cuantificó la fracción de eyección del ventrículo izquierdo en 45%. En la bibliografía hallamos pocos casos de pacientes con cardiopatías congénitas complejas no intervenidos hasta la edad adulta. En ellos hay que considerar la fisiopatología cardiaca e intentar evitar elevaciones de las resistencias sistémicas, al igual que las maniobras que aumenten la resistencia a la eyección del ventrículo derecho. Tras la cirugía hay que intentar minimizar las resistencias vasculares pulmonares(AU)

A 66-year-old man with complex congenital heart defects (atrial septal defects, with incomplete cor triatriatum, an aneurysmal sac in the membranous septum, ventricular communication and pulmonary valve stenosis) was scheduled for surgery for progressive dyspnea even at rest. During anesthetic induction, effort was made to avoid increased shunting. Surgery consisted of resection of the cor triatriatum membrane, closure of communications with pericardial patches, pulmonary valve replacement, replacement of the root with a porcine root, and pulmonary artery aneurysmorrhaphy. Severely decreased contractility developed while the patient was still in the operating room; inotropic support with adrenaline and dobutamine was required. Extubation was completed in the postoperative recovery unit with no further complications. Echocardiography showed a left-ventricular ejection fraction of 45%. We found few published reports of cases of complex congenital heart disease treated surgically in adulthood. In such cases, cardiac pathophysiology must be carefully considered, and maneuvers that increase systemic resistance or right-ventricular ejection fraction should be avoided. Postoperative pulmonary vascular resistance should be kept as low as possible(AU)

Surgical correction of congenital heart disease at 76 years of age.

The management of adult congenital heart disease is challenging and poses specific problems. We report a patient with ventricular septal defect and pulmonary stenosis who underwent successful repair and coronary artery bypass grafting at the age of 76 years.

Ventrículo derecho y cardiopatías congénitas en el adulto / The right heart in adults with congenital heart disease

La disfunción ventricular derecha no es infrecuente en adultos con cardiopatías congénitas. A diferencia de las cardiopatías adquiridas, en estos pacientes el ventrículo derecho no es siempre el ventrículo subpulmonar y puede soportar la circulación sistémica, como ocurre en la transposición de grandes arterias, lo que lleva a una sobrecarga de presión crónica del ventrículo derecho. Por el contrario, la insuficiencia pulmonar —un problema frecuente después de la reparación quirúrgica de la tetralogía de Fallot— implica una sobrecarga de volumen del ventrículo derecho. Con el tiempo, ambas situaciones pueden generar disfunción ventricular derecha, lo que a menudo supone un problema clínico importante. Por ello es crucial que todo aquel que trate a pacientes con cardiopatías congénitas conozca exhaustivamente tanto la anatomía como la fisiología ventricular derecha. Este artículo revisa la anatomía del ventrículo derecho y los efectos adversos de su disfunción en pacientes adultos con cardiopatías congénitas (AU)

Right ventricular dysfunction is not uncommon in adults with congenital heart disease. In congenital heart disease, unlike acquired heart disease, the right ventricle is not always the subpulmonary ventricle: it may support the systemic circulation as it does in patients with transposition complexes. The result is chronic right ventricular pressure overload. In contrast, pulmonary valve regurgitation —a frequent problem after surgical repair of the tetralogy of Fallot— imposes a volume overload on the right ventricle. Over time, both conditions may lead to right ventricular dysfunction and often this becomes a major clinical concern. Clearly, a thorough understanding of right ventricular anatomy and physiology is a necessity for those caring for patients with congenital heart disease. This article provides an overview of right ventricular morphology and the adverse effects of right ventricular dysfunction in adults with congenital heart disease (AU)

Transthoracic echocardiography does not reliably predict involvement of the aortic valve in patients with a discrete subaortic shelf.

BACKGROUND: A discrete subaortic membrane cannot only cause left ventricular outflow tract obstruction, but can grow onto the aortic valve leaflets. The late finding of this encroachment is aortic valve insufficiency or stenosis. Echocardiography is used to follow the progression of outflow tract obstruction, but its ability to show subaortic membrane encroachment onto the aortic valve is unclear. The purpose of this study is to determine the sensitivity and specificity of echocardiography for diagnosing whether a discrete subaortic membrane involves the aortic valve. METHODS: A pre-operative determination of aortic valve involvement by a discrete subaortic membrane was obtained by review of the official pre-operative echocardiogram reading and a retrospective blinded review of the pre-operative echocardiogram by an independent echocardiographer. These findings were compared to the intra-operative findings. RESULTS: A total of 48 consecutive patients underwent primary resection for isolated discrete subaortic membrane between October, 1995 and May, 2006. The pre-operative and blinded readings both predicted a statistically lower rate of aortic valve involvement - 35% in 11 of 31 patients and 31% in 10 of 31 patients, respectively - than found at surgery - 65% in 31 of 48 patients. The sensitivity and specificity of pre-operative echocardiography to diagnose aortic valve involvement is 35% and 76%. Overall survival was 100%. There were no strokes, re-operations for bleeding or wound infections, or need for a pacemaker. CONCLUSION: Echocardiography is not sensitive in assessing whether a discrete subaortic membrane involves the aortic valve. Since the morbidity and mortality for discrete subaortic membrane resection is negligible, resection may be indicated at the time of diagnosis to minimise aortic valve impairment.

Cierre transcatéter del conducto arterioso persistente con dispositivo de Amplatzer en niños menores de un año / Transcatheter closure of patent ductus arteriosus using the amplatzer duct occluder in infants under one year of age

Introducción y objetivos. El cierre percutáneo del conducto arterioso persistente (CAP) es una técnica bien establecida. Evaluamos la utilidad del oclusor de Amplatzer (ADO), en el cierre percutáneo del CAP en 29 niños menores de 1 año. Métodos. La edad de los pacientes fue de 8,9 ± 2,8 meses y el peso, 6,4 ± 1,5 kg. El 24,1% de los pacientes con edad ≤ 6 meses y el 17,2%, con peso ≤ 5 kg. Se realizó seguimiento en todos (0,5-36 meses). Resultados. El diámetro mínimo del conducto fue 3,16 ± 1,24 mm. El dispositivo se implantó con éxito en 26 (89,6%) pacientes. Las causas del fracaso se debieron a migración del dispositivo a la aorta descendente, persistencia de la fuga en forma moderada y dificultad en progresar el dispositivo. La mortalidad fue nula con el procedimiento. Ocurrieron 3 complicaciones mayores en 2 (10,3%) pacientes. Un aortograma mostró oclusión completa inicial en el 65,5% de los pacientes. La oclusión completa del conducto se demostró en el 96,1% de los pacientes al tercer mes de seguimiento. El éxito final del cierre del CAP se logró en 25/29 (86,2%) pacientes. En el seguimiento, 4 pacientes mostraron estenosis leve en la rama pulmonar izquierda, y 1, estenosis leve en la aorta descendente. Conclusiones. En niños menores de 1 año, el cierre percutáneo del CAP con el oclusor de Amplatzer es un procedimiento efectivo y seguro. Las mejoras en el diseño del oclusor posiblemente disminuirán la frecuencia de complicaciones (AU)

Introduction and objectives. Percutaneous closure of patent ductus arteriosus (PDA) is a well-established technique. We evaluated the usefulness of the Amplatzer duct occluder for the percutaneous closure of patent ductus arteriosus in 29 children under 1 year of age. Methods. The patients’ mean age was 8.9 [2.8] months and their mean weight was 6.4 [1.5] kg. In addition, 24.1% of patients were aged 6 months or less and 17.2% weighed 5 kg or less. All completed follow-up (0.5-36 months). Results. The minimum PDA diameter was 3.16[1.24] mm. The device was implanted successfully in 26 patients (89.6%). Failures were due to either the device migrating to the descending aorta, persistent moderate leakage, or to difficulty in the advancement of the device. No deaths were associated with the procedure. Three major complications occurred in two patients (10.3%). Aortography showed initial total occlusion in 65.5% of patients. At 3-month follow-up, total occlusion was observed in 96.1% of patients. Ultimately, closure was achieved successfully in 25 of the 29 patients (86.2%). During follow-up, 4 patients exhibited mild left pulmonary artery stenosis and 1 exhibited mild stenosis of the descending aorta. Conclusions. In children under 1 year of age, percutaneous closure of patent ductus arteriosus using an Amplatzer occluder was a safe and effective procedure. It is possible that improvements in the design of the occluder could decrease the complication rate (AU)

Diagnosis by sheer coincidence.

We present a case of a 69 year-old woman complaining of palpitations and worsening heart failure, after the 2nd cycle of fludarabine due to Hodgkin's lymphoma. Echocardiography revealed abnormalities typical for corrected transposition of the great arteries (CTGA), which were confirmed in multislice computed tomography (MSCT), as well as subvalvular pulmonary stenosis. There is the case of one of the oldest patients with CTGA and subvalvular pulmonary stenosis. MSCT seems to be a useful and complementary method in diagnosis such diseases.

Pulmonary infundibular stenosis and ventricular septum defect: usefulness of cardiac CT.

A 35-year-old man with a history of syncope and echocardiographic diagnosis of right ventricular outflow tract obstruction and ventricular septum defect was submitted to complete evaluation with an Aquilion Toshiba 64-multislice CT in order to confirm diagnosis and to complete information prior to surgery.