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Frontiers in Genetics 2024Long QT syndrome (LQTS) is an inherited malignant arrhythmia syndrome that poses a risk of sudden death. Variants in the Potassium Voltage-Gated Channel Subfamily H...
BACKGROUND
Long QT syndrome (LQTS) is an inherited malignant arrhythmia syndrome that poses a risk of sudden death. Variants in the Potassium Voltage-Gated Channel Subfamily H Member 2 () gene are known to cause Long QT syndrome through an autosomal dominant inheritance pattern. However, as of now, there have been no reports of any variant leading to Long QT syndrome exhibiting incomplete penetrance that is influenced by gender.
METHODS
Whole-exome sequencing (WES) was conducted on the proband to identify pathogenic variants. Subsequently, Sanger sequencing was employed to validate the identified likely pathogenic variants in all family members.
RESULTS
We analyzed a pedigree spanning three-generations afflicted by Long QT syndrome. WES revealed a novel missense variant (p.Val630Gly, c.1889 T>G) as the causative factor for the family's phenotype. Within this family, all three male carriers of the variant carriers exhibited the Long QT syndrome phenotype: one experienced sudden death during sleep, another received an implantable cardioverter defibrillator (ICD), and a younger man displayed a prolonged QTc interval without any instances of syncope or malignant arrhythmia to date. Interestingly, the middle-aged female carrier showed no Long QT Syndrome phenotype. However, her offspring, diagnosed with Turner syndrome (45, X) and also a carrier of this variant, experienced frequent syncope starting at 12 years old and was diagnosed with Long QT syndrome, leading to an ICD implantation when she was 15 years old. These observations suggest that the manifestation of Long QT syndrome associated with this KCNH2 variant exhibits incomplete penetrance influenced by gender within this family, indicating potential protective mechanisms against the syndrome in females affected by this variant.
CONCLUSION
Our investigation has led to the identification of a novel pathogenic variant responsible for Long QT syndrome within a familial context characterized by gender-selective, incomplete penetrance. This discovery highlights a unique pathogenic inheritance pattern for the gene associated with Long QT syndrome, and could potentially shed light on the distinct penetrance behaviors and patterns of the gene. This discovery broadens our exploration of the KCNH2 gene in cardiac arrhythmias, highlighting the intricate genetic dynamics behind Long QT syndrome.
PubMed: 38873110
DOI: 10.3389/fgene.2024.1409459 -
Revue Medicale de Liege Jun 2024Preventing falls in older adults requires a comprehensive approach that distinguishes between accidental falls and falls related to underlying medical problems, such as...
Preventing falls in older adults requires a comprehensive approach that distinguishes between accidental falls and falls related to underlying medical problems, such as syncope. For unintentional falls, prevention follows a three-stage model. The primary level focuses on encouraging regular physical activity, assessing, and reducing footwear and environmental risks, managing comorbidities, and promoting healthy lifestyles. The secondary level aims to identify and manage all risk factors, including in-depth medical assessment and education of older people and their careers. Finally, the tertiary level aims to minimise the consequences of falls through post-fall care, regular medical monitoring and the introduction of mobility aids or monitoring technologies. Educating older people about the risks, adopting safe behaviours, promoting physical activity, and creating safe environments go beyond these levels. This holistic approach anticipates, identifies, and mitigates risks, promotes safe and active ageing, and aims to achieve overall well-being, reduce adverse outcomes, and promote optimal quality of life throughout the ageing process.
Topics: Humans; Accidental Falls; Aged; Risk Factors; Exercise
PubMed: 38869121
DOI: No ID Found -
Circulation Reports Jun 2024The prognostic significance of different presentations of aortic stenosis (AS) remains unclear. Our aim was to analyze outcomes after transcatheter aortic valve...
The prognostic significance of different presentations of aortic stenosis (AS) remains unclear. Our aim was to analyze outcomes after transcatheter aortic valve replacement (TAVR) according to preoperative AS symptoms. We retrospectively enrolled 369 consecutive patients (age 84.3±5.0 years, and 64% females) who underwent TAVR from 2014 to 2021. We divided them into 4 groups by the main preoperative symptom: asymptomatic (n=50), chest pain (n=46), heart failure (HF; n=240), and syncope (n=33). Post-TAVR rates of HF readmission, all-cause death and cardiac death were compared among the 4 groups. The 4 groups showed no significant trends in age, sex, stroke volume index, or echocardiography indices of AS severity. During a follow-up, the overall survival rate at 1 and 5 years after TAVR was 97% and 90% in the asymptomatic group, 96% and 69% in the chest pain group, 93% and 69% in the HF group, and 90% and 72% in the syncope group, respectively. HF and syncope symptom had significantly lower HF readmission or cardiac death-free survival at 5 years after TAVR (log-rank test P=0.038). In the Cox hazard multivariate analysis, preoperative syncope was an independent predictor of future HF readmission or cardiac death after TAVR (HR=9.87; 95% CI 1.67-97.2; P=0.035). AS patients with preoperative syncope or HF had worse outcomes after TAVR than those with angina or no symptoms.
PubMed: 38860183
DOI: 10.1253/circrep.CR-24-0020 -
Oxford Medical Case Reports Jun 2024Insulin autoimmune syndrome (IAS) is a rare cause of spontaneous hypoglycaemia. We discuss a 91-year-old Caucasian lady who presented with syncope and episodic...
Insulin autoimmune syndrome (IAS) is a rare cause of spontaneous hypoglycaemia. We discuss a 91-year-old Caucasian lady who presented with syncope and episodic adrenergic and neuroglycopenic symptoms. Despite significantly elevated insulin, C-peptide, and proinsulin levels with the presence of anti-insulin antibodies, a pancreatic mass was not identified. Serum immunoelectrophoresis demonstrated monoclonal gammopathy of undetermined significance (MGUS). Treatment involved high-dose steroids, diazoxide, corn starch and acarbose, however the patient passed away four months later due to worsening co-morbidities. The management of IAS in the setting of MGUS is challenging.
PubMed: 38860020
DOI: 10.1093/omcr/omae054 -
Frontiers in Genetics 2024The aim of this study was to analyze the diagnosis, treatment, and follow-up of six cases of complex arrhythmias associated with gene mutations in children.
OBJECTIVE
The aim of this study was to analyze the diagnosis, treatment, and follow-up of six cases of complex arrhythmias associated with gene mutations in children.
METHOD
A retrospective analysis was conducted on six children diagnosed with complex arrhythmias associated with gene mutations. The study included an analysis of the age of onset, initial symptoms, electrocardiographic characteristics, genetic results, treatment course, and follow-up outcomes.
RESULTS
Among the six cases included in the study, there were four males and two females, with an average age of 3.5 ± 0.5 years. The average time from initial symptoms to diagnosis was 2.7 ± 1.3 years. The most common clinical manifestation was syncope, with exercise and emotions being the main triggers. All six children had missense mutations in the gene identified through whole-exome sequencing. In Holter electrocardiogram, atrial arrhythmias and sinoatrial node dysfunction were commonly observed in younger children. Four patients underwent exercise stress testing, with two experiencing bidirectional ventricular premature contractions and two experiencing bidirectional ventricular tachycardia and polymorphic ventricular tachycardia. Initial treatment involved oral propranolol or metoprolol. If arrhythmias persisted, flecainide or propafenone was added as adjunctive therapy. Two patients received permanent cardiac pacemaker treatment (single chamber ventricular pacemaker, VVI). All patients survived, with three experiencing occasional syncope during treatment. The follow-up period ranged from 12 to 37 months, with an average follow-up time of 24.3 ± 3.7 months.
CONCLUSION
Complex arrhythmias associated with gene mutations in children can present with various clinical manifestations. Atrial arrhythmias combined with sinoatrial node dysfunction are commonly observed in younger children, and the combination of pharmacological therapy and cardiac pacemaker treatment yields favourable treatment outcomes.
PubMed: 38859939
DOI: 10.3389/fgene.2024.1405437 -
Aging Clinical and Experimental Research Jun 2024Balance disorders can give rise to sensations of instability, lightheadedness, vertigo, disequilibrium, or syncope, ultimately leading to grave medical, physical,...
BACKGROUND
Balance disorders can give rise to sensations of instability, lightheadedness, vertigo, disequilibrium, or syncope, ultimately leading to grave medical, physical, emotional, and societal ramifications. These conditions are highly prevalent among individuals aged 40 and above. Screen time encompasses activities associated with television viewing, video game playing, and non-work-related computer usage. Prolonged screen exposure may engender a spectrum of health issues and even elevate overall mortality rates. However, the available evidence on the potential link between excessive screen time and balance dysfunction remains limited.
AIMS
The primary aim of this study was to explore the possible association between prolonged screen exposure and impaired balance function.
METHODS
This cross-sectional study utilized data from participants who completed a comprehensive questionnaire in the NHANES database between 1999 and 2002, all of whom were aged over 40 and under 85 years. Participants' screen time was categorized into two groups (< 4 h/d and ≥4 h/d) for subsequent data analysis. Logistic regression, combined with propensity score matching (PSM), was employed to investigate the correlation between screen time and balance disorders.
RESULTS
A total of 5176 participants were enrolled in this study, comprising 2,586 men and 2,590 women, with a prevalence rate of balance disorders at 25.7% (1331/5176). The incidence of balance disorders was found to be significantly higher among individuals who spent 4 hours or more per day on screen time compared to those with less screen time (P<0.001). Multivariate logistic analysis conducted on the unmatched cohort revealed a significant association between screen time and balance disorders, with an odds ratio (OR) 1.8 (95%CI 1.57 ∼ 2.05). These findings remained consistent even after adjusting for confounding factors, yielding an OR 1.43 (95%CI 1.24 ∼ 1.66). Moreover, the association persisted when employing various multivariate analyses such as propensity score matching adjusted model, standardized mortality ratio weighting model and pairwise algorithmic model; all resulting in ORs ranging from 1.38 to 1.43 and p-values < 0.001.
CONCLUSIONS
After controlling for all covariates, screen time (watching TV, playing video games, and using computers outside of work) was associated with balance dysfunction among middle-aged and older adults. This finding may offer a possible idea for the prevention of dizziness and balance disorders. Nevertheless, additional research is imperative to further validate these results.
Topics: Humans; Male; Female; Middle Aged; Aged; Nutrition Surveys; Cross-Sectional Studies; Screen Time; Postural Balance; Self Report; Adult; Aged, 80 and over; Sensation Disorders; Prevalence; Video Games; United States
PubMed: 38856860
DOI: 10.1007/s40520-024-02778-8 -
The Egyptian Heart Journal : (EHJ) :... Jun 2024The reported prevalence of patent foramen ovale (PFO) in the general population is variable. It ranges between 8.6 and 42% according to the population studied and the...
BACKGROUND
The reported prevalence of patent foramen ovale (PFO) in the general population is variable. It ranges between 8.6 and 42% according to the population studied and the imaging technique used. We aim to prospectively assess the prevalence and characteristics of PFO and interatrial septum (IAS) abnormalities as well as the related clinical manifestations in a sample of Egyptian population.
RESULTS
This study comprised 1000 patients who were referred for CT coronary angiography (CTCA). Mean age was 52.5 ± 10.9 years. The prevalence of PFO among the studied population was 16.3%; closed PFO (grade I) 44.2%, open PFO (grade II) 50.9%, and open PFO with jet (grade III) 4.9%. Anatomical high-risk PFO features-defined as the presence of at least 2 or more of the following (diameter ≥ 2 mm, length ≥ 10 mm, septal aneurysm "ASA", or redundant septum)-were found in 51.5% of PFOs' population. Other IAS abnormalities as redundant septum (8.6%), ASA (5.3%), Bachmann's bundle (4.5%), microaneurysm (2.6%), and atrial septal defect (ASD) (0.4%) were detected. There was a lower rate of coexistence of ASA with PFO (p = 0.031). Syncope was significantly higher in patients with PFO compared to those without PFO (6.7% vs. 1.6%, p = 0.001). Stroke, transient ischaemic attacks (TIA), and dizziness were similar in both groups. TIA, dizziness, and syncope were significantly higher in patients with IAS abnormalities including PFO compared to those without IAS abnormalities. Syncope was also significantly higher in PFO with high-risk anatomical features compared to those with non-high-risk PFO population (p = 0.02).
CONCLUSION
The prevalence of PFO in our study was approximately 16.3%, almost half of them showed anatomical high-risk features for stroke. Dizziness, syncope and TIA were significantly higher in patients with IAS abnormalities including PFO.
PubMed: 38856789
DOI: 10.1186/s43044-024-00504-3 -
The Canadian Journal of Cardiology Jun 2024We present the case of a 55-year-old male with a pseudoaneurysm in the right coronary sinus of Valsalva. He was found to have a complete heart block in the context of...
We present the case of a 55-year-old male with a pseudoaneurysm in the right coronary sinus of Valsalva. He was found to have a complete heart block in the context of large-vessel vasculitis involving the aortic root and basal interventricular septum. This case demonstrates the importance of generating a thorough differential diagnosis of complete heart block and using multimodality imaging to pursue the investigations for aortitis when a septal recess near the aortic root is detected. Considering to proceed to a surgical intervention earlier in the progression of the disease should also be part of the management.
PubMed: 38852846
DOI: 10.1016/j.cjca.2024.05.029 -
Public Health Jun 2024The main objective was to determine the prevalence of falls and associated factors in older adults living in Qatar.
OBJECTIVE
The main objective was to determine the prevalence of falls and associated factors in older adults living in Qatar.
STUDY DESIGN
Cross-sectional study.
METHODS
This is a cross-sectional study of older adults aged ≥60 years with at least one encounter with primary health care corporation (PHCC) in Qatar during the period 2017-2022. Data on documented falls, demographic variables, and medical comorbidities were extracted from all PHCCs in Qatar. Descriptive and inferential statistics were used to address the aim of the study.
RESULTS
A total of 68,194 older adults had at least one encounter with PHCC. The median age was 65.0 years, 58.9% were males, and 32.6% were Qatari nationality. A higher percentage of falls was found in individuals with hypertension (80%), diabetes (74.2%), and dyslipidemia (48.9%), which were also the most prevalent comorbidities. The prevalence of falls was 6.7% (95% CI 6.6-6.9). Compared to individuals aged 60-69 years, individuals aged 70-79, 80-89, and 90-99 had increased odds of falls by 1.6 (95% CI 1.5, 1.8), 2.5 (95% CI 2.2, 2.8), and 2.6 (95% CI 2.0, 3.3), respectively. Females and individuals of Qatari nationality had increased odds of fall by 1.5 (95% CI 1.4, 1.6) and 1.2 (95% CI 1.1, 1.3), respectively. Orthostatic hypotension, syncope, Parkinson's disease, and hip arthritis showed the strongest associations with falls.
CONCLUSIONS
Given the growing population of older adults in the Middle East and North African region, falls is a public health concern. The risk factors identified in this study suggest the need for proactive healthcare strategies tailored to the unique needs of older adult populations.
PubMed: 38848620
DOI: 10.1016/j.puhe.2024.04.011 -
European Journal of Case Reports in... 2024Syncope is a brief loss of consciousness caused by reduced blood flow to the brain, characterised by sudden onset, short duration and full recovery without intervention....
UNLABELLED
Syncope is a brief loss of consciousness caused by reduced blood flow to the brain, characterised by sudden onset, short duration and full recovery without intervention. Anamnesis, physical examination and other diagnostic tests such as laboratory analysis and electrocardiogram (ECG) can be conducted to identify the underlying cause of syncope. A Brugada pattern on an ECG in individuals with syndrome of inappropriate antidiuretic hormone secretion (SIADH) who have syncope symptoms may indicate cardiac issues. A 69-year-old man with hypertension and a history of smoking presented with syncope. His vital signs were within normal limits, with no signs of a neurological deficit. The patient met the diagnostic criteria for SIADH, as evidenced by the presence of hyponatraemia (Na 118 mmol/l), a hyperosmolar condition and euvolemia. Upon arrival, a twelve-lead ECG showed ST-segment anomalies that reflected a Brugada ECG pattern. No ventricular arrhythmias were detected during the 24-hour Holter monitoring. Coronary angiography revealed no abnormalities in the coronary arteries. The ECG demonstrated the normalisation of ST elevations and the disappearance of the Brugada ECG pattern after the correction of hyponatraemia. After three months of follow-up the patient, with a normal sodium level, had no episodes of syncope.
LEARNING POINTS
Syncope in elderly patients with Brugada-like ECG patterns can arise from cardiac causes, thus necessitating more examinations.Severe hyponatraemia in patients with SIADH can cause syncope and a Brugada-like ECG pattern.Correction of hyponatraemia, after ruling out cardiac causes, can improve syncope and normalise the Brugada-like ECG pattern.
PubMed: 38846655
DOI: 10.12890/2024_004510