Chiari I malformation and Noonan’s syndrome: Shared manifestations of RASopathy

Neurologic sequalae of Noonan syndrome have been postulated in the literature. A topic of significance is the role of RASopathy in the shared pathophysiology of Noonan Syndrome and Chiari I malformation. In this unique case report, we present a patient with concomitant Noonan Syndrome and Chiari I with 4th ventricular outflow obstruction. The case highlights the importance of close clinical suspicion in this patient population. We utilize the case to delve into intricacies of the known pathophysiology and encourage ongoing investigation. Keywords: Noonan syndrome; Chiari I malformation; RASopathy.

A Novel Technique for Invasive Aortic Valve Pressure Gradient Measurement Using a 6Fr Swan-Ganz Catheter - Case Series

Background Simultaneous left ventricular and aortic pressure gradient assessment has been rendered challenging since the recall of the Langston catheter. Here we describe a simple method for simultaneous left ventricular and aortic pressure gradient assessment using a Swan-Ganz catheter. Case Summary We describe 2 cases where assessment of simultaneous left ventricle and aortic valve gradients was done using a Swan-Ganz Catheter to assess the degree of aortic stenosis and dynamic left ventricular outflow obstruction. Discussion Using Swan-Ganz catheter assessment of simultaneous left ventricle and aortic valve gradients can simplify the procedure with reduced cost and increased patient safety.

Endoscopic Third Ventriculostomy With “Rescue” Fourth Ventriculocisternostomy: 2-Dimensional Operative Video

This case of endoscopic third ventriculostomy (ETV) and flexible endoscopy for lysis of fourth ventricle adhesions for obstructive hydrocephalus illustrates a key anatomical variant (anastomosis of posterior communicating arteries) that increases the difficulty of ETV and should be recognized preoperatively. The video further demonstrates flexible endoscopy for lysis of a fourth ventricular web and excellent third and fourth ventricular anatomy. This patient presented with normal pressure hydrocephalus-like symptoms and magnetic resonance imaging suggestive of a fourth ventricular outflow obstruction. An ETV would be an ideal intervention with a high chance of success1 and avoiding a ventriculoperitoneal shunt or a more invasive suboccipital craniectomy for fourth ventricle exploration; however, variant anatomy and resultant medialization of the bilateral posterior communicating arteries put their location directly beneath the tuber cinereum. After discussing the risks and benefits of the proposed procedure, the patient consented to proceeding with the surgery. Patient is not identifiable either by clinical vignette or through this operative video, which is entirely intraventricular. The care rendered was standard (nonexperimental). The patient did sign consent for filming and production of the educational video submitted. Here, we present operative video from our ETV, demonstrating an inability to confirm adequate fenestration and subsequent flexible endoscopy for fourth ventriculocisternostomy.

Right ventricular outflow obstruction with squamous cell carcinoma of unknown origin

A 60-year-old man was referred to our hospital because of chest tightness. CT scans showed no specific findings except a right ventricular (RV) mass. Echocardiogram revealed that the large cardiac mass was compressing the right ventricular outflow tract, and the patient thus underwent an emergency operation. As the tumour on the inlet side of the right ventricle was tightly adhered to the entire tricuspid chordae, a complete resection was impossible. Pathological findings revealed that the tumour was metastatic squamous cell carcinoma. Four cycles of chemotherapy were administered. Further investigations were conducted to identify the primary cancer focus, but there were no specific findings. Eight months after the operation, the patient returned to the hospital. Echocardiogram showed a severely occupying mass once again, and the patient died as a result. Autopsy revealed no findings relating to the primary origin of the cardiac metastases.

Membranous septal aneurysm causing severe right ventricular outflow obstruction in an adult with trisomy 18

Membranous ventricular septal aneurysm is a known entity but rarely causes severe right ventricular outflow obstruction. We report a 40-year-old female with trisomy 18 who developed severe right ventricular outflow obstruction caused by an enormous membranous septal aneurysm associated with unrepaired inlet ventricular septal defect with perimembranous extension.

Concordant Ventriculoarterial Connections With Abnormally Related Arterial Trunks (Anatomically Corrected Malposition) Associated With Right Ventricular Outflow Tract Obstruction by Accessory Valvar Tissue

Anatomically corrected malposition of the great arteries is a rare conotruncal anomaly that is often confused with congenitally corrected transposition of the great arteries. This case report describes the successful surgical management of an adolescent with severe right ventricular outflow obstruction caused by accessory tricuspid valve tissue in the presence of situs inversus with atrioventricular and ventriculoarterial concordance with malposed great arteries (anatomically corrected malposition) {I,L,D}.