Feasibility and cost of FH cascade screening in Belgium (BEL-CASCADE) including a novel rapid rule-out strategy.

BACKGROUND: Familial hypercholesterolaemia (FH) is underdiagnosed in most countries. We report our first experience from a national pilot project of cascade screening in relatives of FH patients. METHODOLOGY: Participating specialists recruited consecutive index patients (IP) with Dutch Lipid Clinic Network (DLCN) score ≥6. After informed consent, the relatives were visited by the nurses to collect relevant clinical data and perform blood sampling for lipid profile measurement. FH diagnosis in the relatives was based on the DLCN and/or MEDPED FH (Make-Early-Diagnosis-to-Prevent-Early-Deaths-in-FH) criteria. RESULTS: In a period of 18 months, a total of 127 IP (90 with definite FH and 37 with probable FH) were enrolled in 15 centres. Out of the 270 relatives visited by the nurses, 105 were suspected of having FH: 31 with DCLN score >8, 33 with DLCN score 5-8 and 41 with MEDPED FH criteria. In a post-hoc analysis, another set of MEDPED FH criteria established in the Netherlands and adapted to Belgium allowed to detect FH in 51 additional relatives. CONCLUSION: In a country with no national FH screening program, our pilot project demonstrated that implementing a simple phenotypical FH cascade screening strategy using the collaboration of motivated specialists and two nurses, allowed to diagnose FH in 127 index patients and an additional 105 of their relatives over the two-year period. Newly developed MEDPED FH cut-offs, easily applicable by a nurse with a single blood sample, might further improve the sensitivity of detecting FH within families.

Atypical presentation of acute coronary syndrome (ACS): a case report.

CASE: A 45-year-old man presented at the emergency department (ED) with stomach pain since eight days. The patient was not worried about his symptoms and requested only pain relief. The emergency physician requested a consult of the gastroenterologist. Clinical examination was unremarkable. However, 12-lead ECG and ischemic markers were suggestive of acute coronary syndrome (ACS) which led to admission at the cardiology department. Despite delayed presentation, the patient was still referred for urgent coronary angiogram after receiving heparin, ticagrelor and acetylsalicylic acid because of persistent pain. An acute occlusion of the posterior descending artery was visualized and a percutaneous coronary intervention (PCI) with implantation of a drug-eluting stent was performed. DISCUSSION: Atypical presentation of ACS can range from non-chest pain to an epileptic seizure. Risk factors for atypical presentation include female gender, old age, comorbidities and severe mental illness. Troponin testing plays a central role when confronted with ACS but has only limited added-value with non-chest pain ACS. In cohort studies 1-2.2% of diagnosis of ACS is missed by emergency physicians. Possible explanations include atypical symptoms, non-diagnostic ECG and failure to interpret subtle ECG changes. ACS without chest pain frequently gets underdiagnosed and undertreated, which leads to more complications and a higher in-hospital mortality rate.

Swallow presyncope in an athletic patient caused by third-degree atrioventricular block.

Introduction Swallow syncope is a neurally mediated syncope. Multiple causes have been described in literature. A rare cause is arrhythmias. Only a limited amount of cases present the association of swallow syncope and third degree AV-block. Case presentation A 39-year-old man presented with episodes of presyncope while eating. Further medical history, physical examination, resting 12-lead ECG, cyclo-ergometry, transthoracic echocardiography and MRI of the heart were normal. 24 h Holter monitoring demonstrated high-grade third-degree atrioventricular (AV) block. The patient was scheduled for pacemaker implantation. Discussion Arrhythmia is a rare cause of swallow syncope. Reported arrhythmic causes are sinus bradycardia, sinoatrial block, atrioventricular block and complete atrial and ventricular asystole. Essential to the diagnosis is that (pre)syncope is preceded by swallowing and documentation of AV block on 24 h Holter monitoring. Treatment is guided by ESC guidelines which state that reflex syncope has a grade IIa recommendation for pacing, while current evidence suggests that asymptomatic vagally mediated AV block should not be treated until symptomatic.

A patient with progressive dyspnoea and a new heart murmur.

A 74-year-old man was referred to the outpatient clinic of the cardiology department with progressive dyspnoea and a new heart murmur. Physical examination of the chest wall showed a hard immobile and painless sternal swelling at the level of the angulus of Ludovici. There was an increase of the velocities across the pulmonary valve (continuous Doppler) on echocardiography as a result of the RVOT and pulmonary trunk stenosis. Computed tomography (CT) of the chest revealed a mass in the anterior mediastinum which had grown through the sternum into the skin, as well as an external compression of the ascending aorta, the truncus pulmonalis and the pericardium. Anatomo-pathological examination revealed a non-small-cell lung carcinoma. PET CT showed another nodule with FDG uptake in the right kidney, suspected for metastasis, and an uptake in a right paratracheal lymph node. The tumour was staged as a cT4cN2M1b. Palliative radiochemotherapy was started. The patient had a good clinical and radiographic response, but relapsed a few months later.