Saskia N. van der Crabben's research while affiliated with University of Amsterdam and other places

... 30 Data from the ongoing study of Dutch COL3A1 variant carriers may refute or confirm this observation. 31 In clinical practice, it is challenging to strike the right balance between encouraging the patient to live the fullest possible life, while taking the necessary precautions mandated by their disease. Our findings suggest that the rate of pregnancy-related deaths as well as other major events and surgical complications may be significantly lower in the patients diagnosed in the future. ...

... Measuring health related quality of life is important to understand the impact of diseases on peoples' lives. Van Pottelberghe and colleagues report a systematic review of patient reported outcome measures in inherited cardiac conditions [1]. Most studies used generic, non-disease specific measures. ...

... Moreover, new clinical classification of rare cardiac arrhythmogenic and conduction disorders and rare arrhythmias has been proposed to facilitate research and simplify differential diagnostics [1]. Significant progress has been made in assessing the genetic background of patients after sudden cardiac arrest [2], and new frontiers have also been reached in the field of stratifying cardiovascular risk and predicting sudden cardiac death. These advances concern the use of novel biomarkers in combination with clinical data [3,4]. ...

... Aside from the direct therapeutic consequences for the patient, the diagnosis of ICC also greatly affects morbidity and mortality in the patient's family [13,19]. In diseases such as the Dutch DPP6 haplo-Herzschrittmachertherapie + Elektrophysiologie 3 type, identification of family members at risk and primary prevention ICD implantation has saved lives [3]. However, also in other ICCs, such as LQTS or Brugada syndrome, lifestyle advice or the avoidance of specific drugs will lower the morbidity and mortality rate of everyone involved. ...

... A possible mechanism that could increase the risk of ventricular arrhythmia is the synthesis of lysophospholipids from the breakdown of membrane lipids and acylcarnitine from circulating FFA [51]. FFA may also impede the Na + , K + , and ATPase pump, causing a rise in intracellular Na + and Ca 2+ [52] that may raise the risk of arrhythmias [53,54]. ...

... There appear to be potential biomarkers for severe phenotypes of MYBPC3-associated HCM. Multiple pathways, including acylcarnitine, histidine, lysine, purine, steroid hormone metabolism, and proteolysis are altered in these patients, which could lead to possible risk stratification methods in the future [87]. ...

... The mother showed completely skewed XCI (100:0), and similar XCI skewing was found in both the II.2 (90:10) and II.3 unaffected sister (85:15), with the mutant allele preferentially inactive. Furthermore, a p.(Arg441Trp) variant was described by Philips et al. in 2014 in three male probands with ID and several dysmorphic features shared with our proband II.1, and was recently confirmed as a recurrent variant in a novel ZMYM3-associated NDD [33,34]. Other potentially causative ES-detected variants were excluded by functional analysis [e.g., de novo OSBPL8: c.1535 T > C; p.(Val512Ala)] that did not show altered protein activity (Prof. ...

... It is most commonly observed after reperfusion of an acute myocardial infarction; however, it has been documented in cases with drug intoxications (e.g., digoxin, beta agonists, and anesthetic agents), electrolyte disturbances, cardiomyopathies (e.g., hypertrophic, dilated, and arrhythmogenic), and in healthy individuals without any underlying cardiac pathology (Riera et al., 2010). It is important to note that typically AIVR has a favorable prognosis and, if necessary, medical intervention focuses on addressing the underlying responsible causes (Bijsterveld et al., 2022). It can be easily postulated that in our case report, chronic uremic state was the trigger for AIVR formation. ...

... However, mammalian cell lines in which the wild-type and the variant cDNA of a given ion channel can be expressed are still widely used to study the functional properties of ion currents [37,38]. Initially, patch clamp experiments were performed manually, but in recent years, the pathogenicity of SCN5A, KCNQ1, and KCNH2 variants involved in the inherited cardiac channelopathies Brugada syndrome and long QT syndrome types 1 and 2, respectively, have also been determined using high-throughput reclassification assays based on automated patch clamp devices [25,[39][40][41][42][43][44]. Various biophysical parameters of the membrane currents have been used to classify the risk of genetic variants, but current density is the most reliable marker for predicting the risk of SCN5A [45], KCNQ1 [39], and KCNH2 [46] ion channel variants, followed by their voltage dependence of activation (through their half-activation voltage, V 1 2 ). ...

... However, recent studies point towards the possibility of a more liberal approach [29]. Our sports advice for these individuals was based on the AHA [30] and ESC guidelines [7], but with the final advice formulated by our national multidisciplinary team [31]. The subject with an aortic aneurysm was advised to discontinue all intensive and explosive exercise. ...