Intervention for critical aortic stenosis in Hutchinson-Gilford progeria syndrome.

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.

Oral benadryl and central venous catheter abuse-a potentially "lethal combination".

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.

Single-stage repair of tetralogy of Fallot with pseudoaneurysm: a unique approach.

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.

Childhood angina due to congenital atresia of the coronary sinus.

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.