[A man in his fifties with near-syncope episodes and persistent dizziness]. / En mann i 50-årene med nærbesvimelser og vedvarende svimmelhet.

BACKGROUND: A previously healthy male patient in his fifties presented with subacute onset of severe, diffuse dysautonomia with orthostatic hypotension as the main symptom. A lengthy interdisciplinary workup revealed a rare condition. CASE PRESENTATION: Over the course of a year, the patient was twice admitted to the local department of internal medicine because of severe hypotension. Testing showed severe orthostatic hypotension with normal cardiac function tests and no apparent underlying cause. On referral to neurological examination, symptoms of a broader autonomic dysfunction were discovered, with symptoms of xerostomia, irregular bowel habits, anhidrosis and erectile dysfunction. The neurological examination was normal, except for bilateral mydriatic pupils. The patient was tested for ganglionic acetylcholine receptor (gAChR) antibodies. A strong positive result confirmed the diagnosis of autoimmune autonomic ganglionopathy. There were no signs of underlying malignancy. The patient received induction treatment with intravenous immunoglobulin and later maintenance treatment with rituximab, resulting in significant clinical improvement. INTERPRETATION: Autoimmune autonomic ganglionopathy is a rare but likely underdiagnosed condition, which may cause limited or widespread autonomic failure. Approximately half of the patients have ganglionic acetylcholine receptor antibodies in serum. It is important to diagnose the condition as it can cause high morbidity and mortality, but responds to immunotherapy.

Pacing as a Treatment for Reflex-Mediated (Vasovagal, Situational, or Carotid Sinus Hypersensitivity) Syncope: A Systematic Review for the 2017 ACC/AHA/HRS Guideline for the Evaluation and Management of Patients With Syncope: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society.

OBJECTIVES: To determine, using systematic review of the biomedical literature, whether pacing reduces risk of recurrent syncope and relevant clinical outcomes among adult patients with reflex-mediated syncope. METHODS: MEDLINE (through PubMed), EMBASE, and the Cochrane Central Register of Controlled Trials (through October 7, 2015) were searched for randomized trials and observational studies examining pacing and syncope, and the bibliographies of known systematic reviews were also examined. Studies were rejected for poor-quality study methods and for the lack of the population, intervention, comparator, or outcome(s) of interest. RESULTS: Of 3188 citations reviewed, 10 studies met the inclusion criteria for systematic review, including a total of 676 patients. These included 9 randomized trials and 1 observational study. Of the 10 studies, 4 addressed patients with carotid sinus hypersensitivity, and the remaining 6 addressed vasovagal syncope. Among the 6 open-label (unblinded) studies, we found that pacing was associated with a 70% reduction in recurrent syncope (relative risk [RR]: 0.30; 95% confidence interval [CI]: 0.15-0.60). When the 2 analyzable studies with double-blinded methodology were considered separately, there was no clear benefit (RR: 0.73; 95% CI: 0.25-2.1), but confidence intervals were wide. The strongest evidence was from the randomized, double-blinded ISSUE-3 (Third International Study on Syncope of Uncertain Etiology) trial, which demonstrated a benefit of pacing among patients with recurrent syncope and asystole documented by implantable loop recorder. CONCLUSIONS: There are limited data with substantive evidence of outcome ascertainment bias, and only 2 studies with a double-blinded study design have been conducted. The evidence does not support the use of pacing for reflex-mediated syncope beyond patients with recurrent vasovagal syncope and asystole documented by implantable loop recorder.

A case of chronic hypomagnesemia in a cancer survivor.

OBJECTIVES: Hypomagnesemia is common among hospitalized patients, particularly those who are critically ill. It can be associated with a number of potentially life-threatening cardiovascular, neurological and behavioral manifestations. As opposed to acute, chronic hypomagnesemia is often underdiagnosed and underreported and as such may pose a diagnostic and therapeutic problem. CASE PRESENTATION: We describe a case of magnesium wasting in a middle-aged woman with head and neck cancer who presented with recurrent syncopal episodes complicated by a femur fracture 4 months after completing a course of carboplatin-containing chemotherapy. Fractional excretion of magnesium of 16% was consistent with renal wasting of magnesium. After ruling out all common causes of hypomagnesemia, it was concluded that she sustained carboplatin-induced renal tubular damage making her relatively resistant to magnesium supplementation. CONCLUSION: Several antineoplastic agents have been linked to chronic hypomagnesemia including anti-epidermal growth factor receptor agents such as cetuximab and panitumumab, cyclosporine, and the platinum-based agents cisplatin and carboplatin. The example case presented here illustrates the importance of chronic hypomagnesemia and its possible debilitating effects following carboplatin-containing chemotherapy. A growing numbers of cancer survivors are treated with these antineoplastic agents, and are hospitalized for non-cancer-related problems. These patients may have prolonged hypomagnesemia, and hence pose a diagnostic dilemma. We review the pathophysiology, etiology, diagnosis, clinical manifestations, monitoring and treatment of hypomagnesemia, with special attention to mechanisms of renal damage caused by platinum-containing chemotherapeutic agents.

Neuroautonomic evaluation of patients with unexplained syncope: incidence of complex neurally mediated diagnoses in the elderly.

BACKGROUND: The incidence of syncope increases in individuals over the age of 70 years, but data about this condition in the elderly are limited. Little is known about tilt testing (TT), carotid sinus massage (CSM), or supine and upright blood pressure measurement related to age or about patients with complex diagnoses, for example, those with a double diagnosis, ie, positivity in two of these three tests. METHODS: A total of 873 consecutive patients of mean age 66.5±18 years underwent TT, CSM, and blood pressure measurement in the supine and upright positions according to the European Society of Cardiology guidelines on syncope.1 Neuroautonomic evaluation was performed if the first-line evaluation (clinical history, physical examination, electrocardiogram) was suggestive of neurally mediated syncope, or if the first-line evaluation was suggestive of cardiac syncope but this diagnosis was excluded after specific diagnostic tests according to European Society of Cardiology guidelines on syncope, or if certain or suspected diagnostic criteria were not present after the first-line evaluation. RESULTS: A diagnosis was reached in 64.3% of cases. TT was diagnostic in 50.4% of cases, CSM was diagnostic in 11.8% of cases, and orthostatic hypotension was present in 19.9% of cases. Predictors of a positive tilt test were prodromal symptoms and typical situational syncope. Increased age and a pathologic electrocardiogram were predictors of carotid sinus syndrome. Varicose veins and alpha-receptor blockers, nitrates, and benzodiazepines were associated with orthostatic hypotension. Twenty-three percent of the patients had a complex diagnosis. The most frequent association was between vasovagal syncope and orthostatic hypotension (15.8%); 42.9% of patients aged 80 years or older had a complex diagnosis, for which age was the strongest predictor. CONCLUSION: Neuroautonomic evaluation is useful in older patients with unexplained syncope after the initial evaluation. A complex neurally mediated diagnosis is frequent in older people. Our results suggest that complete neuroautonomic evaluation should be done particularly in older patients.

Brain herniations into the dural venous sinuses or calvarium: MRI of a recently recognized entity.

Brain herniations into dural venous sinuses (DVS) are rare findings recently described and their etiology and clinical significance are controversial. We describe five patients with brain herniations into the DVS or calvarium identified on MRI, and discuss their imaging findings, possible causes, and relationship to the patient's symptoms. All patients were examined with MRI including high resolution pre- and post-contrast T1- and T2-weighted sequences. With respect to brain herniations we documented their locations, signal intensities in different sequences, and size. We then reviewed clinical records in an attempt to establish if any symptoms were related to the presence of these herniations. Three males and two females were examined (age range, 11-68 years). Three patients had unilateral temporal lobe herniations into transverse sinuses, one had a cerebellar herniation into the skull, and one had bilateral temporal lobe herniations into the transverse sinuses as well as a cerebellar herniation into the sigmoid sinus. In all, the herniated brain and surrounding cerebrospinal fluid (CSF) had normal signal intensity on all MRI sequences. When correlated with clinical symptoms, brain herniations were thought to be incidental and asymptomatic in three patients and two patients had histories of headaches. Brain herniations with surrounding CSF into the DVS/skull should be considered potential sources of filling defects in the DVS. We believe that they are probably incidental findings that may be more common than previously recognized and should be not confused with the more common arachnoid granulations, clots, or tumors. Two patients had headaches, but their relation to the presence of herniated brain was uncertain.

Paradoxical embolism interrupted.

A 41 year-old African-American male presented with syncope preceded by shortness of breath at outside facility and transferred to us for management of extensive pulmonary embolism with unstable vital signs. Electrocardiogram showed sinus tachycardia with S1Q3T3 pattern. A transthoracic echocardiogram revealed a freely mobile strand like mass in the left atrium. A transoesophageal echocardiogram showed a very large freely mobile thrombus extending from a patent foramen ovale in to the left atrium. He underwent emergent surgery for the extraction of clot followed by thromboembolectomy from both pulmonary arteries. He made a remarkable recovery and was discharged after seven days of hospital stay.

Syncope in elderly patients--is there a place for endomyocardial biopsy?

Syncope in the aging population has two characteristics--it always has a multifactorial origin and age by itself is a predictor of a worse outcome even in syncope with an apparent benign mechanism. Therefore, it is worthwhile investigating extensively the cardiac substrate in selected cases when the initial evaluation demonstrates its presence. In the cases where the usual workup fails to unveil the cause for the decompensating heart substrate, morphological examination with endomyocardial biopsy should be taken into account, after matching every particular case with one of the clinical scenarios listed in the Scientific Statement on the role of endomyocardial biopsy in the management of cardiovascular disease.

Giant dumbbell-shaped intra- and extracranial nerve schwannoma in a child presenting with glossopharyngeal neuralgia syncope syndrome: a case report and review of the literature.

Lower cranial nerve schwannomas are benign tumors of the neurolemmocytes of the cranial nerves. Among children, cranial nerve schwannomas are extremely rare and are predominantly associated with neurofibromatosis (NF) type 2. The purpose of the current case report is to describe a unique giant extra- and intracranial foramen jugular schwannoma in a young boy with lower cranial nerve deficits and glossopharyngeal neuralgia syncope syndrome and to review the pertinent literature. In the current case report, we illustrate the course of disease in a 14-year-old boy with a 4-month history of recurrent syncope and a big bulge on the left side of his neck. Audiometry showed deafness of the left ear. Magnetic resonance imaging (MRI) demonstrated a giant unilateral dumbbell-shaped intra- and extracranial foramen jugular schwannoma with a volume of 156 cm3 causing severe brain stem compression and obstructive hydrocephalus. The tumor was removed completely in a two-step surgery. The tumor was confirmed during surgery to originate from the glossopharyngeal nerve. The histological examination revealed the characteristic features of a schwannoma. The MRI 3 months after the second surgery confirmed complete tumor removal. The genetic examination for NF was negative. Review of literature showed that dumbbell-shaped lower cranial nerve schwannomas in the childhood population are rare.

Otolithic membrane damage in patients with endolymphatic hydrops and drop attacks.

OBJECTIVES: 1. Evaluate the otolithic membrane in patients with endolymphatic hydrops (EH) and vestibular drop attacks (VDA) undergoing ablative labyrinthectomy. 2. Correlate intraoperative findings to archival temporal bone specimens of patients with EH. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. SPECIMEN SOURCE: 1. Patients undergoing labyrinthectomy for incapacitating Ménière's disease (MD), delayed EH, VDA, or acoustic neuroma (AN) between 2004 and 2011. 2. Archival temporal bone specimens of patients with MD. INTERVENTIONS: Ablative labyrinthectomy. MAIN OUTCOME MEASURES: Examination of the utricular otolithic membrane. RESULTS: The otolithic membrane of the utricle was evaluated intraoperatively in 28 patients undergoing labyrinthectomy. Seven (25%) had a history of VDA, 6 (21%) had delayed EH, 9 (32%) had MD, and 6 (21%) had AN. All patients with VDA showed evidence of a disrupted utricular otolithic membrane, whereas only 50% and 56% of patients with delayed EH and MD, respectively, demonstrated otolithic membrane disruption (p = 0.051). None of the patients with AN showed otolithic membrane disruption (p = 0.004). The mean thickness of the otolithic membrane in 5 archival temporal bone MD specimens was 11.45 micrometers versus 38 micrometers in normal specimens (p = 0.001). CONCLUSION: The otolithic membrane is consistently damaged in patients with VDA. In addition, there is a significantly higher incidence of otolithic membrane injury in patients with MD and delayed EH compared with patients without hydrops, suggesting that the underlying pathophysiology in VDA results from injury to the otolithic membrane of the saccule and utricle, resulting in free-floating otoliths and atrophy.

Long-term follow-up of patients with short QT syndrome.

OBJECTIVES: The aim of this study was to investigate the clinical characteristics and the long-term course of a large cohort of patients with short QT syndrome (SQTS). BACKGROUND: SQTS is a rare channelopathy characterized by an increased risk of sudden death. Data on the long-term outcome of SQTS patients are not available. METHODS: Fifty-three patients from the European Short QT Registry (75% males; median age: 26 years) were followed up for 64 ± 27 months. RESULTS: A familial or personal history of cardiac arrest was present in 89%. Sudden death was the clinical presentation in 32%. The average QTc was 314 ± 23 ms. A mutation in genes related to SQTS was found in 23% of the probands; most of them had a gain of function mutation in HERG (SQTS1). Twenty-four patients received an implantable cardioverter defibrillator, and 12 patients received long-term prophylaxis with hydroquinidine (HQ), which was effective in preventing the induction of ventricular arrhythmias. Patients with a HERG mutation had shorter QTc at baseline and a greater QTc prolongation after treatment with HQ. During follow-up, 2 already symptomatic patients received appropriate implantable cardioverter defibrillator shocks and 1 had syncope. Nonsustained polymorphic ventricular tachycardia was recorded in 3 patients. The event rate was 4.9% per year in the patients without antiarrhythmic therapy. No arrhythmic events occurred in patients receiving HQ. CONCLUSIONS: SQTS carries a high risk of sudden death in all age groups. Symptomatic patients have a high risk of recurrent arrhythmic events. HQ is effective in preventing ventricular tachyarrhythmia induction and arrhythmic events during long-term follow-up.

Isolated idiopathic right ventricular dilated cardiomyopathy.

Isolated idiopathic right ventricular dilated cardiomyopathy is rare and is a diagnosis by exclusion. There is a distinct male predominance. The usual clinical presentations are syncope, ventricular tachycardia, left bundle branch block on ECG and right heart failure. Diagnosis is usually established based on the clinical and laboratory parameters. Confirmation of the same is done by studying the pathological features of the heart in an endomyocardial biopsy or at post-mortem. Herein we report a case of this rare entity which was diagnosed clinically and was further confirmed at autopsy.

Syncope from dynamic left ventricular outflow tract obstruction simulating hypertrophic cardiomyopathy in a patient with primary AL-type amyloid heart disease.

Dynamic left ventricular outflow tract (LVOT) obstruction is seen classically in hypertrophic cardiomyopathy. Cardiac amyloidosis can present with asymmetric hypertrophy that resembles hypertrophic cardiomyopathy, and, in some cases, with dynamic LVOT obstruction. The occurrence of syncope in such patients is not uncommon. The syncope is usually thought to be related to mechanisms other than LVOT obstruction, such as arrhythmias, conduction disturbances, orthostatic hypotension, or vasovagal effects associated with neuropathy.Herein, we report the case of a patient who had immunocyte-derived (primary AL-type) cardiac amyloidosis with the echocardiographic appearance of hypertrophic cardiomyopathy and evidence of LVOT obstruction that caused syncope. We were able to provoke and identify dynamic LVOT obstruction that produced presyncopal symptoms similar to those that typically occur in such patients spontaneously. Dynamic LVOT obstruction as a cause of syncope should be considered in patients who have cardiac amyloidosis and echocardiographic evidence of hypertrophic cardiomyopathy.

Echocardiographic findings in a contemporary Afro-Caribbean population referred for evaluation of unexplained syncope / Hallazgos ecocardiográficos en una población afrocaribeña contemporánea referida para evaluación del síncope inexplicado

Echocardiographic findings were reviewed for 106 patients (mean age 41.3 ± 23.0 years, range 3 to 90 years, 61% female) referred for evaluation of unexplained syncope. Abnormal echocardiographic findings were seen in 36/106 (34%) patients, of which 12/106 (11%) may have an abnormality that contributed to symptoms. Abnormal echocardiographic findings (64 vs 6%, p < 0.01) and those possibly causing syncope (22 vs 0%, p < 0.05) were significantly more likely in the oldest tercile of patients compared with the youngest. No patient less than 35 years old had a possibly diagnostic abnormality.

Se revisaron los hallazgos ecocardiográficos de 106 pacientes, edad promedio 41.3 ± 23.0 años, rango 3 a 90 años, 61% hembras, referidos para evaluación del síncope inexplicado. Se observaron hallazgos ecocardiográficos anormales en 36/106 (34%) pacientes, de los cuales 12/106 (11%), podían tener una anormalidad que contribuyera a los síntomas. Los hallazgos ecocardiográficos anormales (64 versus 6%, p < 0.01) y aquellos que posiblemente causan síncope (22 versus 0%, p < 0.05) fueron significativamente más probables en el tercil de pacientes de mayor edad en comparación con los más jóvenes. Ningún paciente menor de 35 años de edad tuvo alguna anormalidad diagnóstica.