RESUMEN
Hutchinson-Gilford Progeria Syndrome (HGPS) is an ultra-rare genetic premature aging disease that is historically fatal in teenage years, secondary to severe accelerated atherosclerosis. The only approved treatment is the farnesyltransferase inhibitor lonafarnib, which improves vascular structure and function, extending average untreated lifespan of 14.5 years by 4.3 years (30%). With this longer lifespan, calcific aortic stenosis (AS) was identified as an emerging critical risk factor for cardiac death in older patients. Intervention to relieve critical AS has the potential for immediate improvement in healthspan and lifespan. However, HGPS patient-device size mismatch, pervasive peripheral arterial disease, skin and bone abnormalities, and lifelong failure to thrive present unique challenges to intervention. An international group of experts in HGPS, pediatric and adult cardiology, cardiac surgery, and pediatric critical care convened to identify strategies for successful treatment. Candidate procedures were evaluated by in-depth examination of 4 cases that typify HGPS clinical pathology. Modified transcatheter aortic valve replacement (TAVR) and left ventricular Apico-Aortic Conduit (AAC) placement were deemed high risk but viable options. Two cases received TAVR and 2 received AAC post-summit. Three were successful and 1 patient died perioperatively due to cardiovascular disease severity, highlighting the importance of intervention timing and comparative risk stratification. These breakthrough interventions for treating critical aortic stenosis in HGPS patients could rewrite the current clinical perspective on disease course by greatly improving late-stage quality of life and increasing lifespan. Expanding worldwide medical and surgical competency for this ultra-rare disease through expert information-sharing could have high impact on treatment success.
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ABSTRACT: Native valve endocarditis, a rare phenomenon in children, can present with septic embolization and devastating consequences. We present a healthy child with bilateral cortical blindness due to native mitral valve endocarditis. After prompt medical and surgical therapy, he regained complete vision. Early surgical intervention resulted in the best outcome.
Asunto(s)
Ceguera Cortical , Endocarditis Bacteriana , Endocarditis , Implantación de Prótesis de Válvulas Cardíacas , Ceguera Cortical/etiología , Niño , Endocarditis Bacteriana/complicaciones , Endocarditis Bacteriana/diagnóstico , Humanos , Masculino , Válvula Mitral/diagnóstico por imagen , Válvula Mitral/cirugíaRESUMEN
Undiagnosed coronary sinus obstruction can be a source of paediatric exertional chest pain and death. We present a case series of three interesting children who developed only exertional angina from various degrees of coronary sinus stenosis or atresia. We discuss the diagnosis and management of each case and the potential pathophysiology involved with their symptoms.
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Angina de Pecho/etiología , Seno Coronario/anomalías , Estenosis Coronaria/diagnóstico , Adolescente , Angina de Pecho/diagnóstico , Niño , Angiografía Coronaria , Seno Coronario/diagnóstico por imagen , Estenosis Coronaria/congénito , Humanos , MasculinoRESUMEN
Elevated cardiac troponin I can occur in patients with cardiac injury or sepsis. However, extreme elevations of serum cardiac troponin I in pediatric patients without myocardial injury are rare. We present a case of a 14-year-old girl involved in a motor vehicle accident with muscle injury, who was readmitted with sepsis and severely elevated serum cardiac troponin I level in the absence of myocardial injury.
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Bacteriemia/complicaciones , Cardiomiopatías/diagnóstico , Mareo/etiología , Lesiones Cardíacas/diagnóstico , Laceraciones/complicaciones , Náusea/etiología , Troponina I/sangre , Accidentes de Tránsito , Adolescente , Biomarcadores , Cardiomiopatías/etiología , Femenino , Lesiones Cardíacas/etiología , Humanos , Valor Predictivo de las PruebasRESUMEN
Chest pain is common among adolescents. However, chest pain among adolescents with eating disorders is unique. We report a case of an anorexic adolescent presenting to the emergency room with acute onset of chest pain due to spontaneous pneumomediastinum. The pathophysiology, etiology, and risk factors of chest pain among adolescents with anorexia nervosa are reviewed.
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Anorexia Nerviosa/complicaciones , Dolor en el Pecho/etiología , Enfisema Mediastínico/complicaciones , Adolescente , Anorexia Nerviosa/diagnóstico , Anorexia Nerviosa/terapia , Dolor en el Pecho/terapia , Medicina de Emergencia/métodos , Femenino , Humanos , Enfisema Mediastínico/diagnóstico por imagen , Enfisema Mediastínico/terapia , Radiografía , Resultado del TratamientoRESUMEN
A symptomatic 1,400 g premature triplet underwent successful transcatheter coil embolization of patent arterial duct using the umbilical artery. One 3 mm x 3 cm Flipper coil was used with no angiographic residual shunt. To the best of our knowledge, this is one of the smallest preterm infants to undergo this transcatheter procedure.
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Cateterismo Cardíaco/métodos , Conducto Arterioso Permeable/terapia , Cateterismo Cardíaco/instrumentación , Materiales Biocompatibles Revestidos/uso terapéutico , Conducto Arterioso Permeable/diagnóstico por imagen , Ecocardiografía , Humanos , Recién Nacido , Recien Nacido Prematuro , Recién Nacido de muy Bajo Peso , Masculino , Politetrafluoroetileno/uso terapéutico , Resultado del TratamientoRESUMEN
This article describes the potential for lethal abuse of central venous catheters in oncology patients and its effects especially on the cardiovascular system. Central venous catheters are frequently used to provide immediate vascular access allowing patients to obtain lifesaving therapy or have painless blood-drawing procedures. However, they may also serve as a vehicle for abuse and misuse of medications increasing the potential for morbidity and mortality. We present a unique instance where a pediatric patient attempted suicide by self-injecting crushed diphenhydramine (Benadryl) capsules into her central venous catheter. The patient developed acute but transient ST segment elevation and echocardiographic evidence of severe pulmonary hypertension. She was treated symptomatically with oxygen and diuretics over a period of weeks, while her pulmonary hypertension completely resolved. The injection of oral medications into the central circulation is typically associated with transient pulmonary hypertension and clinical features of pulmonary embolism, especially in preparations containing talc. Although the pulmonary hypertension can be transient, it could be fatal. Physicians must be alert to the potential for abuse and misuse of central venous catheters especially in the chronically ill pediatric patients.
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Difenhidramina/administración & dosificación , Difenhidramina/envenenamiento , Hipertensión Pulmonar/inducido químicamente , Embolia Pulmonar/inducido químicamente , Intento de Suicidio , Adolescente , Cateterismo Venoso Central , Femenino , HumanosRESUMEN
Pseudoaneurysm is a potentially lethal complication after modified Blalock-Taussig shunt. This report describes a frequently misdiagnosed clinical presentation along with noninvasive diagnosis of pseudoaneurysm after a modified Blalock-Taussig shunt. We report a novel single-stage surgical management of the pseudoaneurysm with concomitant complete repair of tetralogy of Fallot.
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Aneurisma Falso/cirugía , Complicaciones Posoperatorias , Tetralogía de Fallot/cirugía , Anastomosis Quirúrgica/efectos adversos , Aneurisma Falso/diagnóstico , Aneurisma Falso/etiología , Aorta/cirugía , Procedimientos Quirúrgicos Cardíacos/efectos adversos , Humanos , Lactante , Masculino , Cuidados Paliativos , Arteria Pulmonar/cirugía , Tetralogía de Fallot/complicacionesRESUMEN
A young child with exertional chest pain, and an electrocardiographic pattern suggesting reversible ischaemia of the anterior ventricular wall documented by Cardiolyte stress-testing, underwent cardiac catheterization and selective coronary angiography. Although the coronary arteries were entirely normal, the recirculation phase demonstrated marked dilation of the coronary sinus, with atresia of its mouth. At surgery, the patient was confirmed to have muscular atresia at the mouth of the coronary sinus, and underwent unroofing of the coronary sinus to the left atrium, with ligation of a persistent left superior caval vein. Post-operatively, the patient continued to have persistent chest pain, albeit without inducible ischaemia on stress-testing.