Objectives:
To study the impact of curfews during the COVID-19 pandemic, on the physical activity in patients of heart failure implanted withcardiac implantable electronic devices (CIEDs).
Methods:
This was a retrospective single-center study of heart failure patients inserted with remote monitoring (RM)-capable CIED. We analyzed the transmitted data of physical activity and fluid volume status of all patients, before, and during the lockdown periods between February and April 2020. The clinical status of the patients was also evaluated.
Results:
Device data from 429 patients implanted with CIED capable of RM were initially evaluated. Patients with an implantable loop recorder, Brugada or Long QT syndromes, and patients with incomplete transmissions were excluded. Eighty-two patients with heart failure were included. The median age was 65 years (58-72), and 53 (64.6%) subjects were men. There was a 27.1% decline in physical activity, and the median physical activity of patients significantly declined from 2.4 to 1.8 hours/day (
p
=0.000010).
Conclusion:
Data obtained by remotely monitored CIED in heart failure patients suggests a significant decline in physical activity during the country lockdown due to the pandemic. Awareness of the future potential hazards in this group of patients is warranted.
Background: Familial hypercholesterolemia (FH) is an autosomal dominant inherited genetic disorder and results in the development of coronary artery disease (CAD). Clinical diagnosis of homozygous HH patients is usually straightforward because persistent hypercholesterolemia can produce xanthoma and corneal arcus. However, xanthoma may also be misdiagnosed as skin lesions and could therefore be mistreated. The aim of this case study report is to highlight the plight of patients with FH as means of raising awareness of the condition among dermatologists and health care practitioners, also to determine the genotype-phenotype correlation in severely affected homozygous FH proband patients. Methods: Genetic screening of FH associated genes was performed by Ion Torrent next-generation sequencing and cascade screening by capillary sequencing. Results: We present two clinical cases with prominent skin lesions seen in a dermatology clinic that were referred to plastic surgery for excision. Genetic testing was performed later, and confirmed common single nucleotide deletion variant (c.2027delG) in the LDLR alleles consequent to a frameshift mutation p.(G676Afs*33). In addition to the LDLR variant, two possibly damaging APOB variants p.(L3313I) and p.(L1212M) and three damaging variants p.(R19*), p.(G83Q) and p.(S474*) in APOC3, PON2 and LPL genes respectively were identified. The PON2 gene variant p.(G83Q) was found to be novel, while others have been previously reported. Both patients were refractory to pharmacological therapies and are currently on lipoprotein apheresis (LA). Conclusions: The present report indicates the need for increased awareness of FH, among the public and healthcare practitioners and supports the need for diagnostic screening and cascade genetic testing of this high-risk condition, which could ultimately lead to better prevention of CHD in this lethal condition.
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