A 44-year-old woman was admitted to hospital for further evaluation of recurrent episodes of syncope with a long QT-interval associated with hypocalcaemia. The patient had experienced epileptic seizures as a child, but no treatment had been required. No further epileptic events were reported after puberty. Otherwise, past medical and surgical history was unremarkable. The patient denied taking recreational drugs or consuming alcohol. There was no history of inherited diseases among relatives.\nThe patient experienced her first syncope episode in 2014 while she was doing housework; this occurred without any prodrome or signs of vasovagal reaction (i.e. fainting, nausea, sweating, blurred vision, tingling of lips or fingertips). The fall caused by the syncope led to a fracture of the atlas arch and she was admitted to the hospital. On admission, vital parameters were oxygen saturation 98%, blood pressure 124/65 mmHg, heart rate 80/min; there was no cyanosis, oedema, or bibasilar rales in the lungs. She was awake and oriented, with no focal neural deficits. Cranial computed tomography (CCT) ruled out cerebral pathologies. The electrocardiogram (ECG) on admission showed a prolonged QT interval with corrected QT (QTc) of 520 ms, associated with a hypocalcaemia (calcium level 1.4 mmol/L) (). Echocardiography showed apical hypokinesia and coronary angiography revealed normal coronary arteries. Cardiac magnetic resonance tomography ruled out structural heart disease and there were no signs of myocarditis. Serial ECG showed a normal QTc when serum calcium levels were within the normal range. No significant arrhythmias were documented on 7-day-Holter monitoring.\nHypocalcaemia was interpreted as part of a newly diagnosed primary hypoparathyroidism, and substitution therapy with vitamin D (1000 U/day) and calcium (500 mg twice daily) was started. However, the patient admitted to not having taken medication shortly before a second syncope event that occurred suddenly at home in 2019, which resulted in fracture to the jaw and hand. Physical and emotional stress at that time were denied. Physical examination including neurological assessment was unremarkable. CCT revealed neither intracranial bleeding nor an ischaemic event. Levetiracetam 500 mg twice a day was prescribed by neurologist due to an increased epileptic activity on electroencephalography. In the absence of other possible causes, this event was assumed to also be related to hypocalcaemia.\nECG on admission to our hospital () showed no significant conduction disorders and no repolarization abnormalities. Telemonitoring was unremarkable except for a single 3-min episode of a self-terminated supraventricular tachycardia with sudden onset and a heart rate of 140 beats/min without any haemodynamic compromise. Laboratory tests showed hypocalcaemia (1.76 mmol/L) due to reduced parathormone production; all other electrolytes were within normal ranges; haemoglobin was 12 mg/dL. High-sensitivity troponin was not elevated. Although it had not previously been documented, we noted mild facial dysmorphia (i.e. prominent nose with large tip and hypoplastic nares, small dysmorphic ears). The combination of transient hypocalcaemia with subtle facial characteristics were thought to be indicative of one of the velocardiofacial syndromes, namely DiGeorge syndrome. Subsequent genetic test showed a microdeletion in 22q11.2, confirming the diagnosis ().\nThere are two possible mechanisms of hypocalcaemia inducing a TLOC: arrhythmogenic syncope or seizure. Because our patient showed prolonged QTc immediately after the first episode, we assumed that she had experienced an arrhythmogenic syncope, and that this was caused by a hypocalcaemia-induced long QT syndrome. Therefore, it was decided to implant an event recorder for the detection of arrhythmic events. Substitution therapy with calcium carbonate 500 mg twice daily and vitamin D 1000 U/day was initiated. The calcium level was monitored every 3 months and dosages adjusted by an endocrinologist as required. The patient was also examined by neurologist. Although we made a strong recommendation for psychiatric evaluation, the patient declined. No further organ systems were affected. No recent syncope was reported during 12 months of follow-up and there were no arrhythmic events stored by the event-recorder.
A 51-year-old man was admitted to our university hospital in September 2016 with panic attacks, dyspnea and chronic obstructive pulmonary disease (COPD) grade IV. During panic attacks, the patient experienced a feeling of heart-race (but heart frequency remained below 100/min), cramps in the upper extremities and fear of death. In addition, the patient suffered from chronic abdominal pain (over all quadrants). Therefore, he had previously been admitted many times to hospitals near his hometown at medical and surgical departments. Since no organic causes for the symptoms were identified, the patient was referred to a local psychiatric department where he was admitted as an inpatient seven times between 2014 and 2016. The patient increasingly developed subtle memory and concentration deficits, depressed mood, and ruminations, predominantly about his deteriorating health. Because he relinquished hopes of recovery from abdominal pain, for the first time in his life in 2016, he made a suicide attempt by taking an unknown amount of trazodone and triazolam tablets. He was discharged from the psychiatric ward of the community hospital after stabilization of acute suicidal thoughts 1 week before being admitted to our hospital.\nIn the initial psychiatric examination, perception, memory and concentration were reduced. The thought flow was reduced, he exhibited depressed mood and ruminations, the patient felt sick, hopeless, and had increased feelings of guilt (mainly for seeking help from his family during panic attacks). His affect was reduced, there was inner tension with concomitant low levels of energy and increased motor activity. His mood deteriorated during the day with ruminating thoughts during the evenings and nights. Consequently, he had difficulties falling asleep, sleeping through the night, decreased total sleep time, early morning awakening and fatigue during the day. Occasionally, he exhibited anxiety, with a feeling of rapid heartbeat, panic and fear of death. These panic attacks were sometimes associated with dyspnea. The psychiatric examination was otherwise normal. In particular, there was no suicidal ideation or suicidality. Hence, a diagnosis of panic disorder with comorbid major depression (MD) with a current severe episode was made.\nThe patient was unemployed, had previously worked as a waiter and lived alone in a small town (<5000 inhabitants). He had no current partner or children. The patient was supported by the department’s social worker. He maintained social contact with his sister and two brothers, all of whom were psychiatrically healthy and highly functioning. The patient was described as a life-time worry-child by his sister. She also described a single short psychotic episode in 2013 with delusions of grandiosity.\nNeurocognitive testing (carried out after improvement of the severe depressive episode) showed crystallized intelligence at an average, fluid intelligence at low average level (Multiple Choice Vocabulary Intelligence Test, MWT-B: 94; Basic Intelligence Functions, IBF, IQ: 82), there were no clinical signs of rapid onset dementia. An electroencephalogram (EEG) exhibited scattered theta waves over all leads, cranial magnetic resonance imaging (MRI) was not tolerated by the patient due to claustrophobic reactions.\nOn admission, the daily psychopharmacological therapy consisted of olanzapine 10 mg and trazodone 150 mg. At our hospital, sertraline was established as an antidepressant and anti-anxiety medication and dosed up to 250 mg. Serum concentration of sertraline was 50 ng/ml at 250 mg p.o.q.d. (reference value: 10–150 ng/ml at 250 mg). Due to better augmentative and side-effect profiles, olanzapine was changed to amisulpride and left at 50 mg at night. As additional anti-anxiety therapy, pregabaline was slowly titrated to 300 mg, thereby taking advantage of low potential of respiratory depression. With this combinatory antidepressant and anti-anxiety treatment, the patient achieved marked improvement of mood within 4 weeks. Anxiety and inner tension levels dropped, there were no further panic attacks during the stay in hospital.\nAdditionally, the patient was treated in psychotherapeutic groups at our ward but participation in physiotherapy and occupational therapy was poor. His favorite pastime at our ward was playing cards on his laptop. A successful relocation to a nursing home in Vienna was initiated by the social worker team.\nIn the initial medical examination, the patient weighed 80 kg at 179 cm, had mild edema in both legs, noisy breathing (mild wheezing) and reported diffuse but severe abdominal pain that had started 6 months ago. Previously performed examinations (gastroscopy, coloscopy, X‑ray) did not find a somatic cause for the pain. Thus, psychogenic causes were assumed. The patient reported moderate amounts of alcohol consumption and smoked approximately 20 cigarettes a day (23 pack years). Penicillin and contrast agent allergies were known. All other examinations were normal.\nThe patient had a medical history of heart surgery for septal defect at 6 years of age (6), correction of polydactyly (two additional thumbs, age 6 years), appendectomy (8 years), polypectomy in the nose (10 years) and colon (51 years) were diagnosed and treated.\nA 12-lead electrocardiogram (ECG) after admission was normal. Blood laboratory tests showed combined hypercholesterolemia (triglycerides [TG] 81 mg/dl, cholinesterase [CHE] 334 mg/dl, low-density lipoprotein [LDL] 249.89 mg/dl, slightly elevated liver enzymes, gamma-glutamyl transferase [GGT] 103 U/l, glutamic-pyruvic transaminase [GPT] 55 U/l) were not reproducible by further testing. Creatine kinase (CK) was moderately elevated throughout the hospital stay (190–362 U/l), whereby psychogenic muscular tension was considered as the most likely reason. Arterial blood gases (pCO2: 51.4%, pO2: 50.6%, pH 7.4) in combination with obstructive breathing, severely reduced forced expiratory volume in 1 s (FEV1) (17%) and moderate vascular shadows in chest X‑rays confirmed previously known COPD. Cardiac sonography showed a pronounced septal shift with inspiratory left-sided shift, a borderline right ventricular function and elevated pulmonary artery pressure (36 mm Hg).\nFurther internal medical consultations recommended gastroscopy whereby an antrum gastritis, duodenitis with several small ulcerous lesions and a reflux esophagitis were diagnosed and treated with pantoprazole 80 mg/day. Further radiological testing, e.g. computed tomography-angiography (CTA) with contrast agent and cortisone treatment (allergy) was performed for suspected abdominal claudication. The examination demonstrated high-grade obstruction of the celiac artery but with good collateral arteries and no signs of reduced perfusion of abdominal organs. Obstruction was confirmed with abdominal duplex sonography, whereby reduced flow profiles in the splenic artery and common hepatic artery were demonstrated. Additionally, in the CT, renal cysts in both kidneys in part hemorrhagic were found. A possible stenosis of the ligamentum arcuatum was evaluated with MR angiography (MRA), but due to phobic reactions and lack of compliance during breathing provocation, two attempts did not yield sufficient data for full evaluation of stenosis of the ligamentum arcuatum. After frequent consultations with abdominal surgeons, gastroenterologists and interventional radiologists, explorative surgery was not performed and a conservative approach was chosen. The abdominal pain significantly decreased after initiating antidepressive and anti-anxiety treatment with sertraline and pregabaline. Treatment of gastritis with adequate proton pump inhibitor dosage may also have contributed to improvement of pain. In a telephone call 3 months after discharge, the patient stated he was pain-free.\nDue to early onset heart septum defect, polydactyly, slightly reduced cognitive performance, mild microcephaly and facial abnormities as well as psychiatric diagnoses, a geneticist was consulted. A microarray of genomic DNA with SNP Array Cytoscan HD (Affymetrix, Santa Clara, CA, USA) was performed and a 3.2 Mb deletion in region 22q11.21 was detected. This microdeletion was confirmed by molecular cytogenetics (with HIRA 22q11 Kreatech FISH probes, Leica Biosystems, Wetzlar, Germany).