Characteristics of women with ischemic sudden cardiac death

AbstractBackground Sudden cardiac death (SCD) is a significant mode of death causing 15-20% of all deaths in high-income countries. Coronary artery disease (CAD) is the most common cause of SCD in both sexes, and SCD is often the first manifestation of underlying CAD in women. This case-control study aimed to determine the factors associated with SCD due to CAD in women.Methods The study group consisted of women with CAD-related SCD (N = 888) derived from the Fingesture study conducted in Northern Finland from 1998 to 2017. All SCDs underwent medicolegal autopsy. The control group consisted of women with angiographically verified CAD without SCD occurring during the 5-year-follow-up (N = 610). To compare these groups, we used medical records, autopsy findings, echocardiograms, and electrocardiograms (ECGs).Results Subjects with SCD were older (73.2 ± 11.3 vs. 68.8 ± 8.0, p < 0.001) and were more likely to be smokers or ex-smokers (37.1% vs. 27.6%, p = 0.045) compared to control patients. The proportion of subjects with prior myocardial infarction (MI) was higher in controls (46.9% vs. 41.4% in SCD subjects, p = 0.037), but in contrast, SCD subjects were more likely to have underlying silent MI (25.6% vs. 2.4% in CAD controls, p < 0.001). Left ventricular hypertrophy (LVH) was more common finding in SCD subjects (70.9% vs. 55.1% in controls, p < 0.001). Various electrocardiographic abnormalities were more common in subjects with SCD, including higher heart rate, atrial fibrillation, prolonged QTc interval, wide or fragmented QRS complex and early repolarization. The prevalence of Q waves and T inversions did not differ between the groups.Conclusions Underlying LVH and previous MI with myocardial scarring are common and often undiagnosed in women with CAD-related SCD. These results suggest that untreated CAD with concomitant myocardial disease is an important factor in SCD in women

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations

Scheepstype: Vrachtschip. Het wrak dat op kavel L26 in Zuidelijk Flevoland is aangetroffen is in 1974 door het voormalige Centrum voor Scheepsarcheologie verkend. In 1980 is een herverkenning uitgevoerd. De locatie van de vindplaats ligt tussen de Bosruitertocht en de Bosruiterweg. Het betreft een vrachtschip waarvan de boorden overnaads zijn gebouwd. Het vlak is karveel gebouwd. Het schip was 17,5 m lang en circa 5 m breed. Tijdens de verkenning verkeerde het scheepshout in redelijke staat. Bij het afprikken met prikijzers werd duidelijk dat het wrak vrij compleet aanwezig was. Bij de tweede verkenning bleek dat het wrak door machinale werkzaamheden, die na de eerste verkenning hebben plaatsgevonden, behoorlijk was beschadigd. Het schip is onder zware slagzij over stuurboord afgezonken. Een bijzondere vondst die in het wrak is aangetroffen is een bronzen muntstuk van de stad Utrecht uit het jaar 1767. Op basis van de munt en het bodemprofiel is vastgesteld dat het schip in het derde kwart van de achttiende eeuw is vergaan

Characteristics of women with ischemic sudden cardiac death

Sudden cardiac death (SCD) is a significant mode of death causing 15-20% of all deaths in high-income countries. Coronary artery disease (CAD) is the most common cause of SCD in both sexes, and SCD is often the first manifestation of underlying CAD in women. This case-control study aimed to determine the factors associated with SCD due to CAD in women. The study group consisted of women with CAD-related SCD (N = 888) derived from the Fingesture study conducted in Northern Finland from 1998 to 2017. All SCDs underwent medicolegal autopsy. The control group consisted of women with angiographically verified CAD without SCD occurring during the 5-year-follow-up (N = 610). To compare these groups, we used medical records, autopsy findings, echocardiograms, and electrocardiograms (ECGs). Subjects with SCD were older (73.2 ± 11.3 vs. 68.8 ± 8.0, p p = 0.045) compared to control patients. The proportion of subjects with prior myocardial infarction (MI) was higher in controls (46.9% vs. 41.4% in SCD subjects, p = 0.037), but in contrast, SCD subjects were more likely to have underlying silent MI (25.6% vs. 2.4% in CAD controls, p p  Underlying LVH and previous MI with myocardial scarring are common and often undiagnosed in women with CAD-related SCD. These results suggest that untreated CAD with concomitant myocardial disease is an important factor in SCD in women. Underlying LVH and previous MI with myocardial scarring are common and often undiagnosed in women with ischemic SCD.Untreated CAD with concomitant myocardial disease is an important factor in SCD among women.Improvements in the diagnosis and management of ischemic cardiomyopathy are likely to reduce the SCD burden in women. Underlying LVH and previous MI with myocardial scarring are common and often undiagnosed in women with ischemic SCD. Untreated CAD with concomitant myocardial disease is an important factor in SCD among women. Improvements in the diagnosis and management of ischemic cardiomyopathy are likely to reduce the SCD burden in women.</p

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

Dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) encodes a necessary subunit of the cytoplasmic dynein complex, which traffics cargo along microtubules. Dominant DYNC1H1 mutations are implicated in neural diseases, including spinal muscular atrophy with lower extremity dominance (SMA-LED), intellectual disability with neuronal migration defects, malformations of cortical development (MCD), and Charcot-Marie-Tooth disease, type 2O (CMT2O). We hypothesized that additional variants could be found in these and novel motoneuron and related diseases. Therefore we analysed our database of 1,024 whole exome sequencing samples of motoneuron and related diseases for novel single nucleotide variations. We filtered these results for significant variants, which were further screened using segregation analysis in available family members. Analysis revealed six novel, rare, and highly conserved variants. Three of these are likely pathogenic and encompass a broad phenotypic spectrum with distinct disease clusters. Our findings suggest that DYNC1H1 variants can cause not only lower, but also upper motor neuron disease. It thus adds DYNC1H1 to the growing list of spastic paraplegia related genes in microtubule-dependent motor protein pathways