暂无摘要。

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC), or more recently known as arrhythmogenic cardiomyopathy (ACM), is an heritable disorder of the myocardium characterized by progressive fibrofatty replacement the heart muscle and risk of ventricular arrhythmias and sudden cardiac death (SCD). We report a case study to demonstrate the role of gene mutation detection in risk stratification for primary prevention of SCD in a young patient diagnosed with ARVC.
METHODS: A 15-year-old Asian (Vietnamese) male patient with no history of documented tachyarrhythmia or syncope and a family history of potential SCD was admitted due to palpitations. Clinical findings and work-up including cardiac magnetic resonance imaging (MRI) were highly suggestive of ARVC. Gene sequencing was performed for SCD risk stratification, during which PKP2 gene mutation was found. Based on the individualized risk stratification, an ICD was implanted for primary prevention of SCD. At 6 months post ICD implantation, the device detected and successfully delivered an appropriate shock to terminate an episode of potentially fatal ventricular arrhythmia. ICD implantation was therefore proven to be appropriate in this patient.
CONCLUSIONS: While gene mutations are known to be an important factor in the diagnosis of ARVC according to the 2010 Task Force Criteria and recent clinical guidelines, their role in risk stratification of SCD remains controversial. Our case demonstrated that when used with other clinical factors and family history, this information could be helpful in identifying appropriate indication for ICD implantation.

Idiopathic ventricular fibrillation (IVF) is a diagnosis of exclusion in sudden cardiac arrest (SCA) survivors. Although there are clear guidelines on the clinical work-up of SCA survivors, less than one in five patients receives a complete work-up. This increases the chances of erroneously labelling these patients as having IVF, while 10-20% of them have an inherited cardiac condition (ICC). Diagnoses of ICC increase over time due to (additional) deep phenotyping or as a result of spontaneous expression of ICC over time. As SCA survivors can also harbor (likely) pathogenic variants in cardiomyopathy-associated genes in the absence of a phenotype, or can have another ICC without a clear cardiac phenotype, the question arises as to whether genetic testing in this group should be routinely performed. Family history (mainly in the case of sudden death) can increase suspicion of an ICC in an SCA victim, but does not add great value when adults underwent a complete cardiological work-up. The diagnosis of ICC has treatment consequences not only for the patient but also for their family. Genetic diagnostic yield does not appear to increase with larger gene panels, but variants of unknown significance (VUS) do. Although VUS can be confusing, careful and critical segregation analysis in the family can be performed when discussed in a multidisciplinary team at a center of expertise with at least a cardiologist as well as a clinical and laboratory geneticist, thereby degrading or promoting VUS. When to introduce genetic testing in SCA survivors remains a matter of debate, but the combination of quick, deep phenotyping with additional genetic testing for the unidentifiable phenotypes, especially in the young, seems preferable.
UNASSIGNED: Idiopathisches Kammerflimmern („idiopathic ventricular fibrillation“ [IVF]) ist eine Ausschlussdiagnose bei Überlebenden eines plötzlichen Herzstillstands („sudden cardiac arrest“ [SCA]). Obwohl es eindeutige Leitlinien für die klinische Abklärung von SCA-Überlebenden gibt, erhält weniger als einer von fünf betroffenen Patienten eine vollständige Diagnostik. Dadurch erhöht sich das Risiko einer falschen Diagnose von IVF bei diesen Patienten, von denen 10–20% eine erbliche Herzerkrankung („inherited cardiac condition“ [ICC]) haben. ICC-Diagnosen nehmen mit der Zeit zu, bedingt durch (zusätzliche) umfassende Phänotypisierung oder als Ergebnis einer spontanen ICC-Manifestation im Verlauf. Da SCA-Überlebende auch Träger (wahrscheinlich) pathogener Varianten kardiomyopathieassoziierter Gene bei Fehlen eines Phänotyps sein können oder eine andere ICC ohne eindeutigen kardialen Phänotyp aufweisen können, stellt sich die Frage, ob in dieser Patientengruppe eine genetische Diagnostik routinemäßig durchgeführt werden sollte. Die Familienanamnese (hauptsächlich bei plötzlichem Todesfall) kann den Verdacht auf eine ICC bei Patienten mit SCA erhärten, hat aber keinen hohen zusätzlichen Wert, wenn Erwachsene einer vollständigen kardiologischen Abklärung unterzogen worden sind. Die Diagnose einer ICC hat nicht nur für den Patienten, sondern auch für dessen Familie therapeutische Konsequenzen. Die gendiagnostische Ausbeute scheint sich mit größeren Genpanels nicht zu erhöhen, anders verhält es sich in Bezug auf Varianten mit ungeklärter Relevanz („variants of unknown significance“ [VUS]). Auch wenn VUS für Verwirrung sorgen können, kann eine sorgfältige und kritische Segregationsanalyse in der Familie durchgeführt werden, wenn sie in einem multidisziplinären Team an einem spezialisierten Zentrum mit zumindest einem Kardiologen, einem klinischen Genetiker und einem im Laborbereich tätigen Genetiker („laboratory geneticist“) diskutiert wird, woraufhin die VUS hinsichtlich ihrer Bedeutung verworfen oder gestärkt wird. Wann die genetische Diagnostik bei SCA-Überlebenden einbezogen werden soll, ist eine Frage, über die weiter debattiert wird. Die Kombination einer schnellen, umfassenden Phänotypisierung mit zusätzlichen Gentests für die unidentifizierbaren Phänotypen scheint aber zu bevorzugen zu sein, insbesondere bei jungen Patienten.

Telemedicine and remote monitoring devices, including implantable loop recorders (ILR), are increasingly adopted in the cardiologic setting. These are valuable tools in the arrhythmic stratification of patients at risk of sudden cardiac death, providing a tailored therapeutic management to prevent lethal arrhythmias. We report a case of an asymptomatic 18-year-old boy with a family history of syncope and cardiac arrest, who had a diagnosis of Brugada syndrome with an inducible type 1 pattern and carrier of a missense mutation of the SCN5A gene. In light of the risk factors, although not recommended by current guidelines, we decided to proceed with the implantation of an ILR with remote monitoring service. A few months later, an episode of asymptomatic sustained polymorphic ventricular tachycardia was promptly observed by the remote monitoring, leading to a timely implantation of a subcutaneous cardiac implantable defibrillator.

BACKGROUND: Endovascular embolization has been widely applied in carotid artery aneurysm due to less trauma and simpler procedures than open surgery. Sudden cardiac arrest is a rare event that may cause severe consequences during endovascular embolization. Risk factors of perioperative cardiac arrest include cardiac surgery, younger age, comorbid conditions, and emergency surgery.
METHODS: A 62-year-old male patient had hypertension for 15 years and experienced sudden cardiac arrest of pulseless electrical activity during endovascular embolization.
METHODS: He was diagnosed with a 3.5 × 2.5 mm aneurysm.
METHODS: Chest compression and effective interventions were given.
RESULTS: He was resuscitated by cardiopulmonary resuscitation and systematic therapy.
CONCLUSIONS: This case may provide experience in the management of sudden cardiac arrest during endovascular embolization of a carotid artery aneurysm.

Fibromuscular dysplasia of the coronary is an uncommon coronary defect with a range of pathological alterations and unpredictable clinical description that can cause sudden death. We present an autopsy case of sudden cardiac death due to a rupture of a coronary artery aneurysm in a 59-year-old woman. Postmortem autopsy revealed two huge saccular aneurysms located at the right coronary artery, one of which was ruptured leading to a fatal hemopericardium. Histopathological examination revealed coronary artery fibromuscular dysplasia with fibromyxoid dissociation of the media causing saccular aneurysms. The involvement of coronary arteries in fibromuscular dysplasia with aneurysmal features has been rarely reported in the literature and is most likely an underdiagnosed finding. Due to the little number of published studies, the etiology is not fully understood and data on pathogenesis, risk factors, manifestation, disease course, and mortality are still unclear, which is a gap that needs to be filled in order to avoid under-diagnosis of the disease. Our case report aimed to discuss the mechanisms of sudden death attributed to coronary fibromuscular dysplasia.

Lipoma is a common benign soft tissue tumor, but its size and location can lead to serious issues. We report a case of a 48 year-old male patient who experienced sudden cardiac arrest outside the hospital. After resuscitation and examination, we determined that this was due to a massive mediastinal lipoma compressing the lungs, leading to respiratory failure and pulmonary encephalopathy, ultimately resulting in cardiac arrest. This case serves as a reminder to promptly identify and manage chest lipomas to avoid compression and functional impairment of the respiratory system. Early evaluation and treatment of massive lipomas are crucial for preventing complications.

BACKGROUND: Body weight is a modifiable demographic factor. Although the association of body mass index (BMI) categories with sudden cardiac death was reported, dynamic changes of BMI and the risk of cardiac arrest remain unknown. This study aimed to evaluate the association between the out-of-hospital cardiac arrest (OHCA) occurrence within a year and the percent changes of BMI preceding the OHCA.
METHODS: This population-based nested case-control study used the National Health Insurance Service Data of Korea. In all, 24,465 patients with non-traumatic OHCA between 2010 and 2018, who underwent national health check-up twice (one within a year and the other within 2-4 years before OHCA) and 32,434 controls without OHCA, were matched for age and sex. The association between the risk of OHCA and BMI percent change stratified by sex was investigated.
RESULTS: All the BMI percent changes of ≥ 5% significantly increased the OHCA occurrence with a reverse J-shaped association. Compared to individuals with a stable weight, those with severe (> 15%) BMI decrease had the highest odds ratio (OR) of 4.29 (95% confidence intervals [CIs], 3.72-4.95) for OHCA occurrence followed by those with moderate (10-15%) weight loss (OR, 2.80; 95% CI, 2.55-3.08) and those with severe (> 15%) weigh gain (OR, 2.24; 95% CI, 1.96-2.57), respectively. The impact of weight loss on the cardiac arrest occurrence was more prominent in men, while the impact of weight gain was more prominent in women.
CONCLUSIONS: Significant weight changes increase the risk of OHCA within a year with a reverse J-shaped association. Significant weight loss might be a warning sign for OHCA especially for men.

暂无摘要。

Sense-B-noise is a newly reported possible cause of inappropriate shocks in patients with subcutaneous implantable cardioverter-defibrillators (S-ICDs). The nature of that noise is unknown, it is not related to mechanical failure of the S-ICD system. Reprogramming to the secondary sensing vector is suggested by the producer as a possible solution.
We analyzed the medical records of S-ICD recipients from two university clinical centers (Gdansk and Szczecin, Poland). Our aim was to determine the rate of sense-B-noise, and whether the secondary sensing vector would be available for reprogramming if such a problem occurred in our patients.
The sense-B-noise issue affected three patients in our cohort (3%), which corresponds to the incidence of 0.012 events per patient-year of follow-up. The primary vector was permanently used in 47 patients (52%), secondary in 28 (31%), and alternate in 16 (17%), respectively. Therefore, the total number of patients potentially vulnerable to sense-B noise (with the primary or alternate vector programmed permanently) was 63 (69%). Among those 63 patients, 51 individuals (81%) had also the secondary vector available for permanent use.
The sense-B-noise affected 3% of patients in our cohort, with an incidence of 0.012 per patient-year of follow-up. Most patients potentially vulnerable to sense-B noise could be reprogrammed to the secondary sensing vector, if necessary. Further investigation of the sense-B-noise issue is needed.