Nature Reviews Cardiology, Journal Year: 2022, Volume and Issue: 20(4), P. 236 - 247
Published: Oct. 31, 2022
Language: Английский
Citations
151Atrial fibrillation: pathophysiology, genetic and epigenetic mechanisms
The Lancet Regional Health - Europe, Journal Year: 2024, Volume and Issue: 37, P. 100785 - 100785
Published: Feb. 1, 2024
Atrial fibrillation (AF) is the most common supraventricular arrhythmia affecting up to 1% of general population. Its prevalence dramatically increases with age and could reach ∼10% in elderly. The management AF a complex issue that object extensive ongoing basic clinical research, it depends on its genetic epigenetic causes, varies considerably geographically also according ethnicity. Mechanistically, over last decade, Genome Wide Association Studies have uncovered 100 loci associated AF, shown European ancestry elevated risk AF. These AF-associated revolve around different types disturbances, including inflammation, electrical abnormalities, structural remodeling. Moreover, discovery regulatory mechanisms, involving non-coding RNAs, DNA methylation histone modification, has allowed unravelling what modifications reshape processes leading arrhythmias. Our review provides current state field regarding identification functional characterization AF-related networks, ethnic differences. We discuss clear emerging connections between regulation pathophysiological mechanisms
Language: Английский
Citations
20Monitoring heart rhythms in adult males with X-linked ichthyosis using wearable technology: a feasibility study
Archives of Dermatological Research, Journal Year: 2025, Volume and Issue: 317(1)
Published: Feb. 6, 2025
Abstract The rare dermatological condition X-linked ichthyosis (XLI) is associated with a substantially-increased risk of cardiac arrhythmias. Arrhythmias predispose to multiple serious health conditions, and there need identify them at an early stage, ideally using non-invasive, convenient, cost-effective, reliable wearable technology methods. We tested the feasibility monitoring heart rhythms Apple Watch in five adult males from United Kingdom diagnosed XLI. Participants returned routine electrocardiogram (ECG) traces watch three times per week for eight weeks (plus any ‘watch alerts’ indicating arrhythmic episodes) cardiologist review. Participant feedback was also obtained on perceived usability/wearability watch/app, study requirements. were generally happy conduct, found watch/app straightforward use, > 95% data return rate. Minor protocol improvements suggested. There few issues reported wearability watch. Three participants exhibited no ECG abnormalities, but two presented ventricular ectopic beats (VEs). Only one ‘alert’ returned, this considered normal sinus rhythm, suggesting possibility ‘false positive’ calls. Based our small sample, smartwatch-based screening rhythm abnormalities high-risk male XLI population appears useful, feasible, acceptable patients larger-scale clinical trial warranted. Potentially, such devices may be more suited detecting persistent rather than unpredictable, acute, episodes. high VE burden some consistent septal defects underlying arrhythmia risk.
Language: Английский
Citations
0Cardiac arrhythmia in individuals with steroid sulfatase deficiency (X-linked ichthyosis): candidate anatomical and biochemical pathways
Essays in Biochemistry, Journal Year: 2024, Volume and Issue: unknown
Published: April 4, 2024
Abstract Circulating steroids, including sex hormones, can affect cardiac development and function. In mammals, steroid sulfatase (STS) is the enzyme solely responsible for cleaving sulfate groups from various molecules, thereby altering their activity water solubility. Recent studies have indicated that Xp22.31 genetic deletions encompassing STS (associated with rare dermatological condition X-linked ichthyosis), common variants within gene, are associated a markedly elevated risk of arrhythmias, notably atrial fibrillation/flutter. Here, we consider emerging basic science clinical findings which implicate structural heart abnormalities (notably septal defects) as mediator this heightened risk, propose candidate cellular biochemical mechanisms. Finally, how biological link between structure/function might be investigated further implications work in area.
Language: Английский
Citations
2X‐linked ichthyosis: New insights into a multi‐system disorder
Skin Health and Disease, Journal Year: 2022, Volume and Issue: 2(4)
Published: Oct. 17, 2022
Abstract Background X‐linked ichthyosis (XLI) is a rare genetic condition almostexclusively affecting males; it characterised by abnormal desquamation and retentionhyperkeratosis, presents with polygonal brown scales. Most cases resultfrom deletions within Xp22.31 spanning the STS (steroid sulfatase)gene, remaining resulting from STS‐specific mutations. For manyyears has been recognised that individuals XLI are at increased risk ofcryptorchidism corneal opacities. Methods We discuss emerging evidence such alsomore likely to be affected range of neurodevelopmental psychiatrictraits, cardiac arrhythmias, fibrotic bleeding‐relatedconditions. consider candidate mechanisms may confer elevatedlikelihood these individual conditions, propose novel commonbiological pathway. Results Understanding prevalence, nature co‐occurrence ofcomorbidities associated critical for ensuring early identificationof symptoms providing most effective counselling andmultidisciplinary care individuals. Conclusion Future work in males XLI, new preclinical andcellular model systems, should further clarify underlying pathophysiologicalmechanisms amenable therapeutic intervention.
Language: Английский
Citations
10Characterising heart rhythm abnormalities associated with Xp22.31 deletion
Journal of Medical Genetics, Journal Year: 2022, Volume and Issue: 60(7), P. 636 - 643
Published: Nov. 15, 2022
Genetic deletions at Xp22.31 are associated with the skin condition X linked ichthyosis (XLI), and a substantially increased risk of atrial fibrillation/flutter (AF), in males. AF is elevated thrombosis, heart failure, stroke dementia risk.Through: (a) examining deletion carriers diagnosis UK Biobank, (b) undertaking an online survey regarding abnormal rhythms (AHRs) men/boys XLI female XLI-associated (c) screening for association between common genetic variants within idiopathic AF-related conditions we have investigated how AHRs manifest carriers, identified factors/comorbidities candidate gene(s). Finally, examined attitudes towards carriers.We show that may affect up to 35% (compared <20% age-matched non-carriers), no consistent pattern onset but be precipitated by stress, typically resolve quickly respond well intervention. Gastrointestinal (GI) asthma/anaemia were most strongly comorbidities male AHR, respectively. analysis indicated significant enrichment around STS (7 065 298-7 272 682 bp GRCh37/hg19 genome build) males, GI disorder PNPLA4 866 804-7 895 780 bp) males females, Deletion overwhelmingly favour cardiac implementation.Our data suggest frequently deletion, highlight subgroups prioritised screening. Examining function further model systems lacking steroid sulfatase, clarify pathophysiology.
Language: Английский
Citations
7Teaching Gender Differences at Medical School Could Improve the Safety and Efficacy of Personalized Physical Activity Prescription
Frontiers in Cardiovascular Medicine, Journal Year: 2022, Volume and Issue: 9
Published: June 23, 2022
OPINION article Front. Cardiovasc. Med., 23 June 2022Sec. Sex and Gender in Cardiovascular Medicine https://doi.org/10.3389/fcvm.2022.919257
Language: Английский
Citations
4Identification and Functional Investigation of SOX4 as a Novel Gene Underpinning Familial Atrial Fibrillation
Diagnostics, Journal Year: 2024, Volume and Issue: 14(21), P. 2376 - 2376
Published: Oct. 25, 2024
Atrial fibrillation (AF) signifies the most prevalent supraventricular arrhythmia in humans and may lead to cerebral stroke, cardiac failure, even premature demise. Aggregating strong evidence points genetic components as a cornerstone etiopathogenesis of familial AF. However, determinants for AF patients remain elusive.
Language: Английский
Citations
0Klinefelter Syndrome
Published: Jan. 1, 2024
Citations
0Unique Patient Populations Requiring Mechanical Circulatory Support
Published: Jan. 1, 2024
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