Coexistencia infrecuente de la enfermedad de Tay-Sachs, coartación aórtica y reflujo vesicoureteral de grado V / Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux

La enfermedad de Tay-Sachs es una enfermedad metabólica hereditaria neurodegenerativa. Existen cuatro tipos según el inicio de los síntomas clínicos: infantil, infantil de inicio tardío, juvenil y adulto. El tipo infantil tiene el peor pronóstico. Recientemente, se describieron diferentes anomalías que acompañan a los trastornos metabólicos e influyen en el pronóstico. Presentamos el caso de un lactante con enfermedad de Tay-Sachs junto con coartación aórtica y reflujo vesicoureteral bilateral (RVU) de grado V. Se realizó el seguimiento del paciente en el consultorio externo de Cardiología Pediátrica. En la ecografía abdominal, se observó ectasia pielocalicial, y se detectó reflujo vesicoureteral bilateral de grado V en la cistouretrografía miccional. No se ha informado previamente la coexistencia de estas anomalías. Este caso pone de manifiesto que no se deben subestimar las anomalías del examen neurológico en los pacientes con una cirugía cardíaca reciente, porque podría perderse la oportunidad de diagnosticar enzimopatías congénitas.

Tay-Sachs disease is a neurodegenerative inherited metabolic disease. There are four forms classified by the time of first clinical symptoms: infantile, late infantile, juvenile and adult. Infantile form has the poorest prognosis. Lately, different abnormalities which accompany metabolic disorders and affect the prognosis have been described. We present an infant with Tay-Sachs disease accompanied by coarctation of the aorta and bilateral grade V vesicoureteral reflux (VUR). The patient was followed up in the outpatient clinic of Pediatric Cardiology. The abdominal ultrasonography showed pelvicalyceal ectasia; bilateral grade V VUR in voiding cystourethrography was found. This coexistence has not been previously reported. This case emphasizes that abnormalities in the neurological examination of cardiac postsurgical patients should not be underestimated because the opportunity to diagnose inborn errors of metabolism could be missed.

Coarctação de aorta abdominal justarrenal associada à hipertensão renovascular e claudicação incapacitante: tratamento utilizando ponte ilíaco-birrenal e técnica "paving and cracking" / Coarctation of the abdominal aorta associated with renovascular hypertension and incapacitating claudication: repair with iliac-birenal bypass and paving and cracking technique

Resumo Coarctação da aorta abdominal é uma causa rara de claudicação de membros inferiores e hipertensão refratária. O tratamento é complexo e exige conhecimento de diversas técnicas de reconstrução vascular. Apresentamos um caso de coarctação ao nível das artérias renais, seu tratamento e revisão da literatura. Paciente feminina, 65 anos, com hipertensão refratária desde os 35 anos, utilizando cinco medicações anti-hipertensivas em dose máxima. Pressão arterial média de 260/180mmHg e claudicação incapacitante (menos de 20 metros) bilateral. Angiotomografia computadorizada demonstrou coarctação de aorta justarrenal de 4 mm de maior diâmetro, calcificação circunferencial no local da estenose e tortuosidade da aorta infrarrenal. Foi submetida a tratamento híbrido, com ponte ilíaco-birrenal e implante de stent Advanta V12 no local da estenose. A paciente evoluiu satisfatoriamente e, 60 dias depois da cirurgia, apresentava-se com uma pressão arterial de 140/80mmHg, em uso de apenas duas medicações anti-hipertensivas e sem claudicação.

Abstract Coarctation of the abdominal aorta is a rare etiology of intermittent claudication and refractory hypertension. Treatment is complex and requires knowledge of several vascular reconstruction techniques. We report a case of aortic coarctation at the level of the renal arteries, describing its treatment and presenting a literature review. Female patient, 65 years old, with refractory hypertension since the age of 35, using five antihypertensive medications at maximum doses. Blood pressure was 260/180mmHg and she had disabling claudication (less than 20 meters). Computed tomography angiography showed a 4mm coarctation in the juxtarenal aorta, with circumferential calcification at the stenosis site, and tortuous infrarenal aorta. Hybrid repair was performed with an iliac-birenal bypass and implantation of an Advanta V12 stent at the stenosis site. The patient's postoperative course was satisfactory, she was free from claudication, and her blood pressure 60 days after surgery was 140/80mmHg, taking two antihypertensive medications.

Endovascular treatment of coarctation of the aorta with a self-expanding endoprosthesis: how i do it using the braile dominus ® coarctation aorta device

Abstract The coarctation of the aorta is a relatively highly prevalent congenital heart disease and may be diagnosed as an underline cause of hypertension in adolescents and adults. The gold standard treatment for coarctation of the aorta in these patients is being replaced - from open surgery to endovascular therapy. Some prostheses have been developed to treat the coarctation with less acute and chronic complications. The Dominus® Coarctation Aorta (Braile Biomédica) is the first self-expandable prosthesis created specifically to treat coarctation of the aorta, reducing possible acute complications, like aortic rupture or aortic dissection. Here, we discuss the step-by-step method for using this prosthesis.

Caso Clínico: Resolución quirúrgica de coartación de aorta en un paciente pediátrico / Case Report: Surgical resolution of aortic coarctation in pediatric patient

INTRODUCCIÓN: La coartación de aorta es una cardiopatía congénita con una incidencia de 4 por cada 10 000 nacidos vivos y puede asociarse o no a ductus arterioso persistente u otras malformaciones. Suele ser asintomático, normalmente se diagnostica mediante los signos clásicos; con gradiente de presión arterial entre extremidades, pulsos reducidos en extremidades inferiores, hipertensión arterial en miembros superiores o, en casos graves, fallo cardiaco izquierdo. Su resolución puede ser percutánea o quirúrgica, dependiendo de la edad y sus características. CASO CLÍNICO: Paciente masculino de 6 años, asintomático, con sospecha de coartación aórtica, por presentar una diferencia entre presiones arteriales de miembros superiores e inferiores, extremidades inferiores con pulsos reducidos y soplo sistólico en foco aórtico. Se solicitó ecocardiograma que informó válvula aórtica bicúspide con rafe, insuficiencia ligera y coartación de aorta; angiotomografía evidenció coartación de aorta yuxtaductal; cateterismo cardiaco objetivó casi nulo paso de contraste a través del defecto, por lo que se programó tratamiento quirúrgico. EVOLUCIÓN: La corrección quirúrgica se realizó mediante coartectomía con anastomosis termino-terminal más cierre del conducto arterioso. Posterior a la intervención se logró objetivar una mejora relevante en el gradiente de presión entre las extremidades. En el postquirúrgico el paciente presentó hipertensión que logró ser controlada, evolucionó favorablemente y recibió el alta a los 4 días sin tratamiento antihipertensivo ambulatorio. CONCLUSIÓN: La expectativa de vida en pacientes intervenidos para corregir su cardiopatía congénita es superior en relación a aquellos que no son intervenidos, por lo que el diagnóstico oportuno supone una herramienta importante para mejorar la calidad y esperanza de vida.

BACKGROUND: Coarctation of the aorta is a congenital heart disease with an incidence of 4 per 10 000 live births, it may or may not be associated with patent ductus arteriosus as well as other malformations. It is usually asymptomatic and diagnosed by its classic signs such as; arterial pressure gradient between extremities, reduced pulses in the lower extremities, arterial hypertension in the upper extremities or, in severe cases, left heart failure. Its resolution can be percutaneous or surgical, depending on the patient's age and the characteristics of the defect. CASE REPORTS: A 6-year-old male patient, asymptomatic, with suspected aortic coarctation, due to a difference between arterial pressures in the upper and lower limbs, lower limbs with reduced pulses, and a systolic murmur in the aortic focus. An echocardiogram was requested, which reported a bicuspid aortic valve with raphe, mild regurgitation, and coarctation of the aorta; CT angiography showed coarctation of the juxtaductal aorta; cardiac catheterization showed almost no passage of contrast through the defect, so surgical treatment was scheduled. EVOLUTION: Surgical correction was performed by coartectomy with end-to-end anastomosis and closure of the ductus arteriosus. After the intervention, a relevant improvement in the pressure gradient between the extremities was observed. In the postoperative period the patient presented hypertension, that we managed to control, the patient progressed favorably and was discharged after 4 days without antihypertensive treatment. CONCLUSION: Life expectancy in patients who underwent surgery to correct a congenital heart disease is higher than in those who don't, so timely diagnosis is an important tool to improve life quality and life expectancy.

Pseudocoartación aórtica en niños con ductus arterioso persistente: dos casos de una patología extremadamente infrecuente en menos de 48 horas / Aortic pseudocoarctation in children with persistent ductus arteriosus: two cases of an extremely uncommon pathology in less than 48 hours

Introducción: mientras la persistencia del ductus arterioso (PDA) es la cardiopatía congénita más frecuente, encontrar una pseudocoartación aórtica es muy poco frecuente y lo es más hallarlo en niños y solo hay unos cuantos casos reportados de este hallazgo en niños asociado a PDA. Material y Métodos: se describen los casos de 2 pacientes (1 con diagnóstico preoperatorio y otro sin él) con esta asociación: tanto los datos preoperatorios, los hallazgos transoperatorios, y su manejo trans y postoperatorio que operamos en menos de 48 horas. (AU)

Introduction: while the persistence of ductus arteriosus (PDA) is the most frequent congenital heart disease, finding an aortic pseudocoarctation is very rare and more find it in children and there are only a few reported cases of this finding in children associated with PDA. Material and Methods: we describe the cases of 2 patients (1 with preoperative diagnosis and another without it) with this association: the preoperative data, the transoperative findings, and their trans and postoperative management that we operated on in less than 48 hours. (AU)

Morning glory disc anomaly associated with large facial infantile hemangioma as the presenting signs of PHACE syndrome / Anomalia de Morning Glory associada à extenso hemangioma infantil como apresentação da Síndrome PHACE

ABSTRACT Infantile hemangioma, the most common benign tumor in infancy, is usually an isolated condition occurring in many different locations in the body. However, large infantile hemangioma may be associated with other systemic malformations, including central nervous system, cerebrovascular, cardiac, and ophthalmology abnormalities, a condition termed PHACE syndrome. In this paper, we describe a case of PHACE syndrome that was presented with the unique association of a large facial infantile hemangioma and morning glory anomaly.

RESUMO O hemangioma infantil é a causa mais comum de tumor benigno na infância e usualmente é uma condição isolada podendo ocorrer em diferentes regiões do corpo. No entanto, hemangiomas infantil extensos podem ser associados com outras malformações sistêmicas incluindo anomalias no sistema nervoso central, cerebrovasculares, cardíacas e oftalmológicas, uma condição denominada síndrome PHACE. Neste trabalho, descrevemos o caso de um paciente com síndrome PHACE que se apresentou com um extenso hemangioma facial e anomalia de "morning glory".

PHACE syndrome: clinical manifestations, diagnostic criteria, and management

Abstract: Infantile hemangioma can be linked to other organ malformations. In 1996, PHACE syndrome was first defined as the association of large and segmental infantile hemangioma, usually on the face, head, or cervical region, with malformations of the posterior fossa of the brain, arterial anomalies of the central nervous system, coarctation of the aorta, cardiac defects, and ocular abnormalities. Over 300 cases of PHACE syndrome have been reported, and it is cconsidered one of the most common neurocutaneous vascular disorders in childhood. Knowledge of the features and locations of lesions that imply a greater risk of systemic involvement is crucial for the diagnosis and proper management of PHACE syndrome patients. This review highlights the diagnostic criteria for PHACE syndrome, the imaging workup for extracutaneous involvement, the treatment of infantile hemangioma, and the importance of a multidisciplinary approach in the management of these patients.

Use of dexmedetomidine as an adjunct in the treatment of paradoxical hypertension after surgical repair of coarctation of the aorta in infants.

Severe persistent hypertension is seen infrequently in newborns and infants, but we came across two infants who developed severe paradoxical hypertension after successful coarctation repair. Treatment of systemic hypertension following repair of coarctation of the aorta is always challenging particularly in infants. Dexmedetomidine was used successfully as an adjunct to the established anti‑hypertensive drugs in the immediate postoperative period in our cases to treat postoperative paradoxical hypertension.

Pseudoaneurisma da fibrosa intervalvar mitro-aórtica secundário ao tratamento de estenose subvalvar aórtica em túnel / Pseudoaneurysm of the mitral-aortic Intervalvular fibrosa after operation for congenital subaortic stenosis

Criança com 12 anos de idade, encaminhada para ecocardiografia transtorácica e transesofágica 2D e 3D para controle pós-operatório de correção de estenose subaórtica, que evidenciou um grande pseudoaneurisma da fibrosa intervalvar mitro-aórtica, associado à perfuração da base do folheto anterior da valva mitral. Tratava-se de um caso de coartação da aorta (CoAo) neonatal associada à comunicação interventricular (CIV), que necessitou de múltiplas intervenções cirúrgicas na infância devido ao não tratamento adequado das estruturas predisponentes de estenose subvalvar aórtica. Neste relato, são discutidas as particularidades anatômicas que predispõem a lesões obstrutivas esquerdas e a provável causa de desenvolvimento dessas lesões iatrogênicas.

Twelve year-old child referred for echocardiographic evaluation after surgical treatment of subaortic stenosis. Transthoracic and transesofageal (2D and real time 3D) showed a large pseudoaneurysm of the mitral-aortic intervalvular fibrosa associated with a small perforation at the base of the anterior leaflet of the mitral valve. She had neonatal coarctation of the aorta associated with ventricular septal defect and required multiple surgical procedures in infancy due to an inappropriate treatment of the predisposing anatomical structures of subvalvular aortic stenosis. In this report, the mechanisms of these iatrogenic lesions and the abnormal anatomical features that predispose to left sided obstructive lesions are discussed.

Levosimendan in a neonate with severe coarctation of aorta and low cardiac output syndrome.

We report successful use of levosimendan after failed balloon angioplasty in a critically ill neonate with coarctation of aorta (CoA) and severe low cardiac output syndrome (LCOS). Treatment with levosimendan improved left heart function, and decreased lactate and brain natriuretic peptide levels. To our knowledge, this is the first report on the safe and successful use of levosimendan in the management of LCOS due to severe CoA in a neonate awaiting surgical repair.

Caso 1/2013: homem de 69 anos com dor súbita em dorso e membro inferior direito e choque / Case 1/2013: 69-year-old male patient with sudden back and lower right limb pain and shock

MSM, homem, 69 anos, procurou atendimento médico por dor em dorso esquerdo e membro inferior direito. A radiografia de tórax revelou alargamento do mediastino. Estava em observação quando apresentou rebaixamento da consciência e choque. Foi observado enfisema subcutâneo em hemitórax esquerdo e abolição do murmúrio vesicular em base do mesmo pulmão. Foi feita a intubação orotraqueal e realizada drenagem de hemitórax esquerdo, com saída de líquido serossanguinolento. O ecocardiograma revelou ventrículo esquerdo (D/S): 44/29 mm; septo 12 mm; parede posterior 13 mm; discreta dilatação em raiz da aorta, presença de lâmina de dissecção e hematoma periaórtico. As valvas e pericárdio eram normais. O paciente foi transferido para o InCor. O exame físico (21 out 2004: 10h45) revelou paciente sedado, com intubação orotraqueal, com palidez cutânea, frequência cardíaca 90 bpm, pressão arterial 130 x 80 mmHg, drenagem torácica sanguinolenta do dreno tórax. Eletrocardiograma - frequência 90 bpm, ritmo sinusal, baixa voltagem no plano frontal e diminuição de voltagem em derivações esquerdas (fig. 1). A tomografia revelou enfisema subcutâneo bilateral, aorta torácica com contornos imprecisos na sua porção descendente (da artéria subclávia até porção média), colapso do pulmão esquerdo e grande coleção de características hemáticas em mesmo hemitórax e no mediastino médio e posterior. Pequeno pneumotórax à direita; pequeno derrame pleural à direita com alterações do parênquima subjacente. A análise do coração foi prejudicada pela presença do hemotórax. Durante a realização de tomografia apresentou ausência de pulsos, midríase, com assistolia, sem resposta às manobras de ressuscitação e faleceu (21 out 2011; 15h).

The patient, MSM, a 69-year-old man, sought medical care due to left dorsal and right lower limb pain. The chest x-ray showed mediastinal enlargement. He was undergoing examination when he lost consciousness and went into shock. Subcutaneous emphysema was observed in the left hemithorax, as well as abolition of breath sounds at auscultation. Tracheal intubation was performed with draining of blood-tinged fluid from the left hemithorax. Echocardiography showed left ventricle with 44/29 mm; septum, 12 mm; posterior wall, 13 mm; mild aortic root dilation, dissection of the lamina and periaortic hematoma. The valves and pericardium were normal. The patient was transferred to Instituto do Coraçao - InCor. Physical examination (21 Oct 2004: 10:45) showed that the patient was sedated with tracheal intubation, pale, heart rate at 90 bpm, blood pressure 130 x 80 mmHg, bloody drainage in the chest tube. Electrocardiogram - frequency 90 bpm, sinus rhythm, low voltage in the frontal plane and decreased voltage in left leads (Fig. 1). Computed tomography showed bilateral subcutaneous emphysema, thoracic aorta with inaccurate borders in its descending portion (from the subclavian artery to the middle portion), collapsed left lung and extensive collection of hematic characteristics in same hemithorax and middle and posterior mediastinum. Small right pneumothorax; small right pleural effusion with underlying parenchymal alterations. The analysis of the heart was impaired by the presence of hemothorax. While undergoing computed tomography, the patient showed no pulse, mydriasis, with asystole unresponsive to resuscitation and died (21 Oct 2011; 15:00 h).

Adult Coarctation of Aorta with Bicuspid Aortic Valve.

Coarctation of the aorta is a congenital cardiac malformation that can go undiagnosed with only hypertension as a marker of its presence, because clinical signs can be subtle and overlooked if a complete physical examination is not performed. Here we present a case report of 20 year old young male patient with hypertension who was diagnosed to have Coarctation of Aorta and Bicuspid aortic Valve.Our patient was relatively asymptomatic until he presented with headache and exertional dyspnoea.

Dilated ascending aorta is associated with the difficulty in correct placement of pulmonary artery catheter.

The present case report highlights that a tense mega-sized aortic root and ascending aorta can mechanically resist the passage of fully inflated (1.5 ml air) balloon to wedge-trace position in the pulmonary artery. Any attempt to push the catheter rather predisposed its recoiling and rebutting into the right ventricle and the cardiac arrhythmia. Inflating continuous cardiac output catheter balloon with lesser volume of air (1 ml) is suggested to overcome this problem.