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Article ; Online: Accelerated Idioventricular Rhythm in a Young Athlete: Physiology or Pathology?

Bijsterveld, Nick R / van der Crabben, Saskia N / Groenink, Maarten / Wilde, Arthur / Jørstad, Harald

JACC. Case reports

2022 Volume 4, Issue 23, Page(s) 101657

Abstract: An accelerated idioventricular rhythm was seen on a routine preparticipation electrocardiogram of a 19-year-old healthy and symptom-free athlete. Family history was negative for cardiac disease. Additional investigations revealed a hypertrophic ... ...

Abstract	An accelerated idioventricular rhythm was seen on a routine preparticipation electrocardiogram of a 19-year-old healthy and symptom-free athlete. Family history was negative for cardiac disease. Additional investigations revealed a hypertrophic cardiomyopathy, confirmed with cardiac magnetic resonance imaging and genetic analysis. Accelerated idioventricular rhythm in young athletes warrants careful clinical evaluation. (
Language	English
Publishing date	2022-11-06
Publishing country	Netherlands
Document type	Case Reports
ISSN	2666-0849
ISSN (online)	2666-0849
DOI	10.1016/j.jaccas.2022.09.023
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Article ; Online: A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification.

Hauth, Ingeborg / Waterham, Hans R / Wanders, Ronald J A / van der Crabben, Saskia N / van Karnebeek, Clara D M

Cold Spring Harbor molecular case studies

2022 Volume 8, Issue 2

Abstract: Sodium-dependent multivitamin transporter (SMVT) deficiency is a recently described multivitamin-responsive inherited metabolic disorder (IMD) of which the phenotypic spectrum and response to treatment remains to be elucidated. So far, four pediatric ... ...

Abstract	Sodium-dependent multivitamin transporter (SMVT) deficiency is a recently described multivitamin-responsive inherited metabolic disorder (IMD) of which the phenotypic spectrum and response to treatment remains to be elucidated. So far, four pediatric patients have been described in three case reports with symptoms ranging from severe neurodevelopmental delay to feeding problems and failure to thrive, who demonstrated significant improvement after initiation of enhancement of targeted multivitamin treatment (biotin, pantothenic acid, and lipoic acid). We describe a fifth case of a patient presenting at the relatively mild end of the phenotypic spectrum with failure to thrive, frequent vomiting and metabolic acidosis with hypoglycemia, and mild osteopenia, who was diagnosed with SMVT deficiency due to compound heterozygous variants in
MeSH term(s)	Biotin/metabolism ; Biotin/therapeutic use ; Child ; Failure to Thrive ; Humans ; Pantothenic Acid/metabolism ; Sodium/metabolism ; Symporters/genetics ; Symporters/metabolism
Chemical Substances	Symporters ; Pantothenic Acid (19F5HK2737) ; Biotin (6SO6U10H04) ; Sodium (9NEZ333N27)
Language	English
Publishing date	2022-03-24
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2835759-0
ISSN	2373-2873 ; 2373-2873
ISSN (online)	2373-2873
ISSN	2373-2873
DOI	10.1101/mcs.a006185
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Article ; Online: Pregnancy in women with Brugada syndrome: Is there an increased arrhythmia risk? A case-series report.

van der Crabben, Saskia N / Kowsoleea, Astra I E / Clur, Sally-Ann B / Wilde, Arthur A M

Journal of cardiovascular electrophysiology

2021 Volume 33, Issue 1, Page(s) 123–127

Abstract: Introduction: In some rare arrhythmia syndromes, arrhythmia risk in female patients increases during pregnancy, necessitating extra controls. We wanted to evaluate if the increased risk for arrhythmia during pregnancy applies in women with Brugada ... ...

Abstract	Introduction: In some rare arrhythmia syndromes, arrhythmia risk in female patients increases during pregnancy, necessitating extra controls. We wanted to evaluate if the increased risk for arrhythmia during pregnancy applies in women with Brugada syndrome and their potentially affected fetuses. Methods: A comprehensive literature search was performed on PubMed (MeSH search terms "Brugada syndrome," "pregnancy," "parturition," "labor," "delivery," "fetal death," and "stillbirth"). Results: Overall, six case reports with a total of six patients were identified. Of these six patients (three carriers of an SCN5A variant, three not tested), two women (both with unknown SCN5A status), developed severe cardiac events during pregnancy. The first patient, with a previous history of aborted sudden cardiac arrest at the age of 12 years, developed ventricular fibrillation (VF), while the other was diagnosed with Brugada syndrome postpartum because of nocturnal agonal respiration during pregnancy. Conclusion: These (limited, heterogenous) cases suggest that women with Brugada syndrome (and their possibly affected fetuses), might have an overall low tendency to develop arrhythmias during pregnancy, but important data on risk factors (SCN5A status) are lacking. Arrhythmia risk during pregnancy seems to increase in probands and those who have previously experienced cardiac events. We suggest the use of risk stratification in these women to improve patient care, lower the emotional stress and physical burden for the pregnant mother, and lower health costs. Furthermore, we plead for SCN5A analysis in all these women for use of risk stratification and to enable cascade screening especially for specialized care in children carrying an SCN5A mutation.
MeSH term(s)	Arrhythmias, Cardiac ; Brugada Syndrome/diagnosis ; Brugada Syndrome/genetics ; Child ; Electrocardiography ; Female ; Humans ; Mutation ; NAV1.5 Voltage-Gated Sodium Channel/genetics ; Pregnancy ; Ventricular Fibrillation/etiology ; Ventricular Fibrillation/genetics
Chemical Substances	NAV1.5 Voltage-Gated Sodium Channel
Language	English
Publishing date	2021-10-30
Publishing country	United States
Document type	Journal Article
ZDB-ID	1025989-2
ISSN	1540-8167 ; 1045-3873
ISSN (online)	1540-8167
ISSN	1045-3873
DOI	10.1111/jce.15279
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Article ; Online: Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity?

van der Crabben, Saskia N / Mörner, Stellan / Lundström, Anna C / Jonasson, Jenni / Bikker, Hennie / Amin, Ahmad S / Rydberg, Annika / Wilde, Arthur A M

European journal of human genetics : EJHG

2022 Volume 30, Issue 11, Page(s) 1208–1210

MeSH term(s)	Humans ; Virulence ; Genetic Testing ; Genetic Predisposition to Disease
Language	English
Publishing date	2022-08-26
Publishing country	England
Document type	Journal Article
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-022-01173-z
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Zs.A 3589: Show issues

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Article ; Online: Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review.

van Pottelberghe, Saar / Kupper, Nina / Scheirlynck, Esther / Amin, Ahmad S / Wilde, Arthur A M / Hofman, Nynke / Callus, Edward / Biller, Ruth / Nekkebroeck, Julie / Van Dooren, Sonia / Hes, Frederik J / van der Crabben, Saskia N

European journal of human genetics : EJHG

2023

Abstract: ... predominantly high (35%) or unclear (30%). Most (n = 14) studies used a generic health status measure (SF-36, SF ...

Abstract	Patient-reported outcome measures (PROMs) are used to facilitate patient-centered care (PCC). While studies in patients with cardiac conditions have revealed poorer health-related quality of life (HRQoL) and elevated emotional stress, studies in inherited cardiac conditions (ICC) seem rare. A systematic review evaluated which (specific domains of) PROMs are used in patients with ICC. From three databases (PubMed, PsychINFO, and Web of Science) quantitative studies investigating PROMs in patients with ICC were included. A Cochrane-based assessment tool was used to evaluate quality and potential risk of bias per subdomain. Data from 17 eligible articles were extracted. Among the included studies, risk of bias was predominantly high (35%) or unclear (30%). Most (n = 14) studies used a generic health status measure (SF-36, SF-12); 3 studies used a disease-specific PROM (KCCQ- cardiomyopathy and MLFHQ-heart failure). In addition to HRQoL measures, several studies used affective psychological measures (i.e., HADS, CAQ-18, IES-R, and IPQ). The mental health component of the PROMs showed lower scores overall in patients with ICC compared to population norms. Nine studies using HADS and GAD-7/PHQ-9 showed a prevalence of clinically significant anxiety (17-47%) and depression levels (8.3-28%) that were higher than the population norm (8.3% and 6.3%, respectively). HRQoL in patients with ICC is primarily assessed with generic PROMs. Results further confirmed high psychological morbidity in this population. Generic PROMS measures evaluate overall health status, but lack sensitivity to ICC-specific factors like heredity-related concerns. We propose developing a PROM specific for ICC to optimize PCC.
Language	English
Publishing date	2023-12-14
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-023-01510-w
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Article: Outcomes in Dutch DPP6 risk haplotype for familial idiopathic ventricular fibrillation: a focused update.

Bergeman, Auke T / Hoeksema, Wiert F / van der Ree, Martijn H / Boersma, Lucas V A / Yap, Sing-Chien / Verheul, Lisa M / Hassink, Rutger J / van der Crabben, Saskia N / Volders, Paul G A / van der Werf, Christian / Wilde, Arthur A M / Postema, Pieter G

Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation

2023 Volume 31, Issue 7-8, Page(s) 309–314

Abstract: ... based on risk haplotype, sex and age, 137 (42%) of DPP6 cases received an ICD, for primary prevention (n ... 109) or secondary prevention (n = 28). In the primary prevention subgroup, 10 patients experienced ...

Abstract	Background: The genetic risk haplotype DPP6 has been linked to familial idiopathic ventricular fibrillation (IVF), but the associated long-term outcomes are unknown. Methods: DPP6 risk haplotype-positive family members (DPP6 cases) and their risk haplotype-negative relatives (DPP6 controls) were included. Clinical follow-up data were collected through March 2023. Implantable cardioverter-defibrillator (ICD) indication was divided in primary or secondary prevention. Cumulative survival and event rates were calculated. Results: We included 327 DPP6 cases and 315 DPP6 controls. Median follow-up time was 9 years (interquartile range: 4-12). Of the DPP6 cases, 129 (39%) reached the composite endpoint of appropriate ICD shock, sudden cardiac arrest or death, at a median age of 45 years (range: 15-97). Median overall survival was 83 years and 87 years for DPP6 cases and DPP6 controls, respectively (p < 0.001). In DPP6 cases, median overall survival was shorter for males (74 years) than females (85 years) (p < 0.001). Of the DPP6 cases, 97 (30%) died, at a median age of 50 years. With a prophylactic ICD implantation advise based on risk haplotype, sex and age, 137 (42%) of DPP6 cases received an ICD, for primary prevention (n = 109) or secondary prevention (n = 28). In the primary prevention subgroup, 10 patients experienced a total of 34 appropriate ICD shocks, and there were no deaths during follow-up. DPP6 cases with a secondary prevention ICD experienced a total of 231 appropriate ICD shocks. Conclusion: Patients with the DPP6 risk haplotype, particularly males, are at an increased risk of IVF and sudden cardiac death. Using a risk stratification approach based on risk haplotype, sex and age, a substantial proportion of patients with a primary prevention ICD experienced appropriate ICD shocks, showing the benefit of prophylactic ICD implantation with this strategy.
Language	English
Publishing date	2023-07-27
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2211468-3
ISSN	1876-6250 ; 1568-5888 ; 0929-7456
ISSN (online)	1876-6250
ISSN	1568-5888 ; 0929-7456
DOI	10.1007/s12471-023-01792-1
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Article ; Online: Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of

Jansen, Mark / Schuldt, Maike / van Driel, Beau O / Schmidt, Amand F / Christiaans, Imke / van der Crabben, Saskia N / Hoedemaekers, Yvonne M / Dooijes, Dennis / Jongbloed, Jan D H / Boven, Ludolf G / Deprez, Ronald H Lekanne / Wilde, Arthur A M / Jans, Judith J M / van der Velden, Jolanda / de Boer, Rudolf A / van Tintelen, J Peter / Asselbergs, Folkert W / Baas, Annette F

International journal of molecular sciences

2023 Volume 24, Issue 4

Abstract: Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by ... ...

Abstract	Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by pathogenic
MeSH term(s)	Humans ; Biomarkers ; Cardiomyopathy, Hypertrophic/genetics ; Case-Control Studies ; Cytoskeletal Proteins/genetics ; Mutation ; Phenotype ; Stroke Volume ; Ventricular Function, Left ; Myosins/genetics ; Heterozygote ; Founder Effect ; Male
Chemical Substances	Biomarkers ; Cytoskeletal Proteins ; myosin-binding protein C ; Myosins (EC 3.6.4.1)
Language	English
Publishing date	2023-02-17
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms24044031
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Article: Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).

Ferreira, Elise A / Buijs, Mark J N / Wijngaard, Robin / Daams, Joost G / Datema, Mareen R / Engelen, Marc / van Karnebeek, Clara D M / Oud, Machteld M / Vaz, Frédéric M / Wamelink, Mirjam M C / van der Crabben, Saskia N / Langeveld, Mirjam

Frontiers in neurology

2023 Volume 14, Page(s) 1206106

Abstract: ... IMD patients diagnosed in adulthood (n = 1,426), most frequently portray neurological symptoms (65 ...

Abstract	Background/objectives: The timely diagnosis of inherited metabolic disorders (IMD) is essential for initiating treatment, prognostication and genetic testing of relatives. Recognition of IMD in adults is difficult, because phenotypes are different from those in children and influenced by symptoms from acquired conditions. This systematic literature review aims to answer the following questions: (1) What is the diagnostic yield of exome/genome sequencing (ES/GS) for IMD in adults with unsolved phenotypes? (2) What characteristics do adult patients diagnosed with IMD through ES/GS have? Methods: A systematic search was conducted using the following search terms (simplified): "Whole exome sequencing (WES)," "Whole genome sequencing (WGS)," "IMD," "diagnostics" and the 1,450 known metabolic genes derived from ICIMD. Data from 695 articles, including 27,702 patients, were analyzed using two different methods. First, the diagnostic yield for IMD in patients presenting with a similar phenotype was calculated. Secondly, the characteristics of patients diagnosed with IMD through ES/GS in adulthood were established. Results: The diagnostic yield of ES and/or GS for adult patients presenting with unexplained neurological symptoms is 11% and for those presenting with dyslipidemia, diabetes, auditory and cardiovascular symptoms 10, 9, 8 and 7%, respectively. IMD patients diagnosed in adulthood (n = 1,426), most frequently portray neurological symptoms (65%), specifically extrapyramidal/cerebellar symptoms (57%), intellectual disability/dementia/psychiatric symptoms (41%), pyramidal tract symptoms/myelopathy (37%), peripheral neuropathy (18%), and epileptic seizures (16%). The second most frequently observed symptoms were ophthalmological (21%). In 47% of the IMD diagnosed patients, symptoms from multiple organ systems were reported. On average, adult patients are diagnosed 15 years after first presenting symptoms. Disease-related abnormalities in metabolites in plasma, urine or cerebral spinal fluid were identified in 40% of all patients whom underwent metabolic screening. In 52% the diagnosis led to identification of affected family members with the same IMD. Conclusion: ES and/or GS is likely to yield an IMD diagnosis in adult patients presenting with an unexplained neurological phenotype, as well as in patients with a phenotype involving multiple organ systems. If a gene panel does not yield a conclusive diagnosis, it is worthwhile to analyze all known disease genes. Further prospective research is needed to establish the best diagnostic approach (type and sequence of metabolic and genetic test) in adult patients presenting with a wide range of symptoms, suspected of having an IMD. Systematic review registration: https://www.crd.york.ac.uk/prospero/, identifier: CRD42021295156.
Language	English
Publishing date	2023-07-25
Publishing country	Switzerland
Document type	Systematic Review
ZDB-ID	2564214-5
ISSN	1664-2295
ISSN	1664-2295
DOI	10.3389/fneur.2023.1206106
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Article ; Online: Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.

Demirdas, Serwet / van den Bersselaar, Lisa M / Lechner, Rosan / Bos, Jessica / Alsters, Suzanne I M / Baars, Marieke J H / Baas, Annette F / Baysal, Özlem / van der Crabben, Saskia N / Dulfer, Eelco / Giesbertz, Noor A A / Helderman-van den Enden, Apollonia T J M / Hilhorst-Hofstee, Yvonne / Kempers, Marlies J E / Komdeur, Fenne L / Loeys, Bart / Majoor-Krakauer, Daniëlle / Ockeloen, Charlotte W / Overwater, Eline /

van Tintelen, Peter J / Voorendt, Marsha / de Waard, Vivian / Maugeri, Alessandra / Brüggenwirth, Hennie T / van de Laar, Ingrid M B H / Houweling, Arjan C

Circulation. Genomic and precision medicine

2024 , Page(s) e003978

Abstract: Background: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in : Methods: Individuals with vEDS throughout the ... ...

Abstract	Background: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in Methods: Individuals with vEDS throughout the Netherlands were included. The phenotype was charted by retrospective analysis of molecular and clinical data, combined with a one-time physical examination. Results: A total of 142 individuals (50% female) participated the study, including 46 index patients (32%). The overall median age at genetic diagnosis was 41.0 years. More than half of the index patients (54.3%) and relatives (53.1%) had a physical appearance highly suggestive of vEDS. In these individuals, major events were not more frequent ( Conclusions: Male sex, type and location of the
Language	English
Publishing date	2024-04-16
Publishing country	United States
Document type	Journal Article
ISSN	2574-8300
ISSN (online)	2574-8300
DOI	10.1161/CIRCGEN.122.003978
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Article ; Online: New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS).

Willemse, Brigitte W M / van der Crabben, Saskia N / Kerstjens-Frederikse, Wilhelmina S / Timens, Wim / van Montfrans, Joris M / Lindemans, Caroline A / Boelens, Jaap Jan / Hennus, Marije P / van Haaften, Gijs

Orphanet journal of rare diseases

2021 Volume 16, Issue 1, Page(s) 137

Abstract: We report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years. Hematopoietic stem-cell transplantation ... ...

Abstract	We report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years. Hematopoietic stem-cell transplantation failed to cure another patient. Our findings suggest that the immunological abnormalities can be limited and do not fully explain the LICS phenotype.
MeSH term(s)	Chromosome Breakage ; Hematopoietic Stem Cell Transplantation ; Humans ; Lung Diseases ; Phenotype ; Respiratory Distress Syndrome ; Retrospective Studies
Language	English
Publishing date	2021-03-19
Publishing country	England
Document type	Letter
ISSN	1750-1172
ISSN (online)	1750-1172
DOI	10.1186/s13023-021-01770-z
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