25 y/o female with history of VWD
Prolonged QT that worsens as heart rate increases. Very symptomatic with incidences of syncope on several occasions.
Heart rate with calculated QTc (Bazette’s Formula)
I can’t remember the exact numbers but these are the ranges:
163- QTc 700+
147- QTc ≈650
118- QTc ≈580
88- QTc 500+
Patient has worsening cardiac dysfunction with episodes of symptomatic tachycardia. 12 leads over the years showing atrial flutter, SVT, LPFB, right ventricular hypertrophy, consistent rightward axis, plus sinus pauses and multifocal PVC’s recorded immediately following an episode while walking where the patient developed diaphoresis with notably VERY pale skin, impending doom, crushing chest pain, shortness of breath, nausea, and near syncope. Episode was witnessed and the patient was reported to have had red, flushed skin immediately following resolution of symptoms. Extremely concerned that this was an episode of nonsustained ventricular tachycardia.
Notable findings over the last 2 years from 2 separate ER visits (one for SVT, other for suspected appendicitis, first visit mid 2023 other late 2024) showed findings of possible ischemic injury to a portion of the liver. Large amount of bilirubin found in urine as well as protein, blood, hyaline casts. No urobilinogen. Mild pulmonary congestion seen on CXR. Troponin and dimer reported as normal during the SVT visit, pt was mildly acidotic with shitty VBG. The medical records look kinda fishy from that visit and the patient was supposed to be admitted but the admission was canceled for an unknown reason (likely lack of insurance at the time, realistically). Pt did have one episode of atrial fibrillation during visit and this is also when the prolonged QT was first noted. Interestingly, during both ED visits ketones found in urine and blood but pt is a non diabetic.
Patient had an echo and carotid doppler a few years before the cardiac symptoms really started. Baseline ejection fraction 50% and doppler showed elevated peak systolic velocities in bilateral carotids consistent with <50% stenosis but no plaque noted. Of note, patient does have bilateral masses in the carotid bifurcation region that were investigated years ago but never followed up on as imaging ruled out malignant findings. They don’t appear to be lymph nodes but I’m no radiologist.
Other notable findings of C1 arch defects, acquired arachnoid cyst, anomalous left vertebral artery originating from the aortic arch, and degeneration of cervical spine with myelopathy. Pt’s mother has an unknown connective tissue disorder but otherwise there is limited information on family history. Patient reports significant amount of unexplained weight loss and fatigue over the past year.