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Book: Clinical Cardiogenetics

Baars, Hubert F. / Tintelen, J. Peter van / Houweling, Arjan C. / Doevendans, Pieter A. F. M.

2020

Abstract: Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist ... ...

Author's details	Hubert F. Baars has been a general and genetic cardiologist in the Elisabeth-Tweesteden Hospital Tilburg, The Netherlands, for over 20 years. He has a particular interest in hereditary heart diseases and founded the Brabant outpatient clinic for cardiogenetics. At present he is the director of the DNA clinic in the Netherlands, a chain of outpatient clinics for cardiogenetics. In addition he is a consultant cardiologist at the OLVG Hospital in Amsterdam. Pieter A. F. M. Doevendans completed his training as a cardiologist in Maastricht. In 2004 he was appointed Professor of Translational Cardiology in the UMC Utrecht, the Netherlands. His research focus is on cardiac failure, cardiac stem cells and cardiogenetics. Arjan C Houweling is a clinical geneticist at the VU Medical Center in Amsterdam. He has been working in the field of cardiogenetics since 2007. His research in the field of cardiogenetics has been mainly focused on genetic aspects of Pulmonary Arterial Hypertension and on
Abstract	Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. -- -- The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. -- -- The authors will cov...
Keywords	Sammelwerk ; MHMC040 ; MHMB050 ; Hypertrophic cardiomyopathy ; Short QT-syndrome ; Brugada syndrome ; sudden cardiac death ; Congenital Heart Diseases ; Hereditary conduction diseases ; Sudden cardiac death ; Congenital heart diseases
Language	English
Size	476 p.
Edition	3
Publisher	Springer International Publishing
Document type	Book
Note	PDA Manuell_15
Format	215 x 285 x 30
ISBN	9783030454562 ; 3030454568
Database	PDA

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Book ; Online ; E-Book: Clinical cardiogenetics

Baars, H.F. / Doevendans, P.A.F.M. / Houweling, Arjan C. / van Tintelen, J. Peter

2016

Author's details	H.F. Baars, P.A.F.M. Doevendans, Arjan C. Houweling, J. Peter van Tintelen editor
Keywords	Brugada syndrome ; Congenital heart diseases ; Hereditary conduction diseases ; Hypertrophic cardiomyopathy ; Short QT-syndrome ; Sudden cardiac death
Subject code	610
Language	English
Size	1 Online-Ressource (391 Seiten)
Edition	Second edition
Publisher	Springer
Publishing place	Cham
Publishing country	Germany
Document type	Book ; Online ; E-Book
Note	Lizenzpflichtig
Remark	Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
HBZ-ID	HT019259670
ISBN	978-3-319-44203-7 ; 9783319442020 ; 3-319-44203-1 ; 3319442023
DOI	10.1007/978-3-319-44203-7
Database	ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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Article ; Online: Comment on Balsamo et al.: Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature.

van de Beek, Irma / van Steensel, Maurice A M / Houweling, Arjan C

BMC medical genomics

2022 Volume 15, Issue 1, Page(s) 84

Abstract: The publication by Balsamo and colleagues describes a patient with Birt-Hogg-Dubé syndrome and hyperplastic polyposis throughout the gastro-intestinal tract. We question whether the diagnosis of BHD in this patient was justified. Using the previously ... ...

Abstract	The publication by Balsamo and colleagues describes a patient with Birt-Hogg-Dubé syndrome and hyperplastic polyposis throughout the gastro-intestinal tract. We question whether the diagnosis of BHD in this patient was justified. Using the previously proposed diagnostic criteria for establishing the diagnosis of BHD as a guideline, we systematically describe our concerns. In our opinion, the patient described by Balsamo and colleagues does not meet any of the proposed major and minor criteria for the diagnosis of Birt-Hogg-Dubé syndrome. Therefore, we believe that it is not justified to suggest a possible association between hyperplastic polyposis and Birt-Hogg-Dubé syndrome based on this patient, even though a higher risk for colorectal polyposis in Birt-Hogg-Dubé syndrome has not been excluded so far.
MeSH term(s)	Birt-Hogg-Dube Syndrome/complications ; Birt-Hogg-Dube Syndrome/diagnosis ; Birt-Hogg-Dube Syndrome/genetics ; Colorectal Neoplasms ; Humans ; Hyperplasia
Language	English
Publishing date	2022-04-15
Publishing country	England
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2411865-5
ISSN	1755-8794 ; 1755-8794
ISSN (online)	1755-8794
ISSN	1755-8794
DOI	10.1186/s12920-022-01229-5
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Article ; Online: Iris Flocculi and Type B Aortic Dissection.

Overwater, Eline / Houweling, Arjan C

Ophthalmology

2017 Volume 124, Issue 11, Page(s) 1711

Language	English
Publishing date	2017-11
Publishing country	United States
Document type	Journal Article
ZDB-ID	392083-5
ISSN	1549-4713 ; 0161-6420
ISSN (online)	1549-4713
ISSN	0161-6420
DOI	10.1016/j.ophtha.2017.05.011
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Article ; Online: Pneumothorax als vroege aanwijzing voor een erfelijke aandoening.

van Riel, Lore / van de Beek, Irma / Wolthuis, Rob M F / Boerrigter, Bart G / van Moorselaar, R J A / Houweling, Arjan C

Nederlands tijdschrift voor geneeskunde

2023 Volume 167

Abstract: Background: Several hereditary disorders, with highly variable and sometimes difficult to recognize manifestations, can present with a spontaneous pneumothorax. Options to perform DNA-testing have changed rapidly, as a result of which physicians of ... ...

Title translation	Pneumothorax as an early indication for a genetic disorder.
Abstract	Background: Several hereditary disorders, with highly variable and sometimes difficult to recognize manifestations, can present with a spontaneous pneumothorax. Options to perform DNA-testing have changed rapidly, as a result of which physicians of diverse disciplines are coming into contact with hereditary disorders. Case description: Two patients with a history of multiple spontaneous pneumothoraxes were seen at the outpatient clinic of the department of Clinical Genetics. Based on family history and physical examination, a suspicion of an underlying hereditary disorder arose. Birt-Hogg-Dubé syndrome and vascular Ehlers-Danlos syndrome were diagnosed through DNA-testing. Based on this, additional screening advices were given and DNA-testing became possible in the family. Conclusion: A spontaneous pneumothorax may be a manifestation of an underlying hereditary disorder. With attention to clinical symptoms and family history, physicians can contribute to timely diagnosis. In many cases this results in significant health benefits for both the patient and affected family members, such as screening for kidney cancer in the case of Birt-Hogg-Dubé syndrome.
MeSH term(s)	Humans ; Pneumothorax/etiology ; Pneumothorax/genetics ; Birt-Hogg-Dube Syndrome/complications ; Birt-Hogg-Dube Syndrome/diagnosis ; Birt-Hogg-Dube Syndrome/genetics ; Kidney Neoplasms ; Medical History Taking
Language	Dutch
Publishing date	2023-06-22
Publishing country	Netherlands
Document type	Case Reports ; English Abstract ; Journal Article
ZDB-ID	82073-8
ISSN	1876-8784 ; 0028-2162
ISSN (online)	1876-8784
ISSN	0028-2162
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Article ; Online: Pulmonary vascular phenotype identified in patients with

The European respiratory journal

2024 Volume 63, Issue 4

Abstract: Background: Bone morphogenetic proteins 9 and 10 (BMP9 and BMP10), encoded by : Methods: We report the characteristics and outcomes of PAH patients in : Results: 26 PAH patients were identified: 20 harbouring heterozygous : Conclusions: ... ...

Abstract	Background: Bone morphogenetic proteins 9 and 10 (BMP9 and BMP10), encoded by Methods: We report the characteristics and outcomes of PAH patients in Results: 26 PAH patients were identified: 20 harbouring heterozygous Conclusions: GDF2
MeSH term(s)	Humans ; Male ; Female ; Adult ; Bone Morphogenetic Proteins/genetics ; Bone Morphogenetic Proteins/metabolism ; Hypertension, Pulmonary/diagnosis ; Pulmonary Arterial Hypertension/genetics ; Pulmonary Arterial Hypertension/complications ; Familial Primary Pulmonary Hypertension ; Telangiectasia, Hereditary Hemorrhagic/complications ; Telangiectasia, Hereditary Hemorrhagic/genetics ; Phenotype ; Growth Differentiation Factor 2/genetics ; Multicenter Studies as Topic
Chemical Substances	Bone Morphogenetic Proteins ; GDF2 protein, human ; Growth Differentiation Factor 2 ; BMP10 protein, human
Language	English
Publishing date	2024-04-04
Publishing country	England
Document type	Review ; Journal Article
ZDB-ID	639359-7
ISSN	1399-3003 ; 0903-1936
ISSN (online)	1399-3003
ISSN	0903-1936
DOI	10.1183/13993003.01634-2023
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Article ; Online: Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.

Welch, Carrie L / Aldred, Micheala A / Balachandar, Srimmitha / Dooijes, Dennis / Eichstaedt, Christina A / Gräf, Stefan / Houweling, Arjan C / Machado, Rajiv D / Pandya, Divya / Prapa, Matina / Shaukat, Memoona / Southgate, Laura / Tenorio-Castano, Jair / Chung, Wendy K

Genetics in medicine : official journal of the American College of Medical Genetics

2023 Volume 25, Issue 11, Page(s) 100925

Abstract: Purpose: Pulmonary arterial hypertension (PAH) is a rare, progressive vasculopathy with significant cardiopulmonary morbidity and mortality. Genetic testing is currently recommended for adults diagnosed with heritable, idiopathic, anorexigen-, ... ...

Abstract	Purpose: Pulmonary arterial hypertension (PAH) is a rare, progressive vasculopathy with significant cardiopulmonary morbidity and mortality. Genetic testing is currently recommended for adults diagnosed with heritable, idiopathic, anorexigen-, hereditary hemorrhagic telangiectasia-, and congenital heart disease-associated PAH, PAH with overt features of venous/capillary involvement, and all children diagnosed with PAH. Variants in at least 27 genes have putative evidence for PAH causality. Rigorous assessment of the evidence is needed to inform genetic testing. Methods: An international panel of experts in PAH applied a semi-quantitative scoring system developed by the NIH Clinical Genome Resource to classify the relative strength of evidence supporting PAH gene-disease relationships based on genetic and experimental evidence. Results: Twelve genes (BMPR2, ACVRL1, ATP13A3, CAV1, EIF2AK4, ENG, GDF2, KCNK3, KDR, SMAD9, SOX17, and TBX4) were classified as having definitive evidence and 3 genes (ABCC8, GGCX, and TET2) with moderate evidence. Six genes (AQP1, BMP10, FBLN2, KLF2, KLK1, and PDGFD) were classified as having limited evidence for causal effects of variants. TOPBP1 was classified as having no known PAH relationship. Five genes (BMPR1A, BMPR1B, NOTCH3, SMAD1, and SMAD4) were disputed because of a paucity of genetic evidence over time. Conclusion: We recommend that genetic testing includes all genes with definitive evidence and that caution be taken in the interpretation of variants identified in genes with moderate or limited evidence. Genes with no known evidence for PAH or disputed genes should not be included in genetic testing.
MeSH term(s)	Adult ; Child ; Humans ; Pulmonary Arterial Hypertension/genetics ; Mutation ; Hypertension, Pulmonary/diagnosis ; Hypertension, Pulmonary/genetics ; Genetic Predisposition to Disease ; Genetic Testing ; Bone Morphogenetic Protein Receptors, Type II/genetics ; Bone Morphogenetic Protein Receptors, Type II/metabolism ; Adenosine Triphosphatases/genetics ; Membrane Transport Proteins/genetics ; Activin Receptors, Type II/genetics ; Protein Serine-Threonine Kinases/genetics ; Bone Morphogenetic Proteins/genetics
Chemical Substances	Bone Morphogenetic Protein Receptors, Type II (EC 2.7.11.30) ; ATP13A3 protein, human (EC 3.6.1.-) ; Adenosine Triphosphatases (EC 3.6.1.-) ; Membrane Transport Proteins ; ACVRL1 protein, human (EC 2.7.11.30) ; Activin Receptors, Type II (EC 2.7.11.30) ; EIF2AK4 protein, human (EC 2.7.11.1) ; Protein Serine-Threonine Kinases (EC 2.7.11.1) ; BMP10 protein, human ; Bone Morphogenetic Proteins
Language	English
Publishing date	2023-07-05
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1016/j.gim.2023.100925
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Article: Uptake and Patient Perspectives on Additional Testing for Novel Disease-Associated Genes: Lessons from a PAH Cohort

Jansen, Samara M. A. / van de Heuvel, Lieke M. / Houweling, Arjan C. / van Tintelen, J. Peter / de Man, Frances S. / Vonk Noordegraaf, Anton / Jan Bogaard, Harm

Genes. 2021 Sept. 28, v. 12, no. 10

2021

Abstract: Background: Pulmonary arterial hypertension (PAH) has an identifiable genetic cause in 5% of all PAH cases. Due to health benefits conferred by the early detection of PAH and the recent identification of additional PAH-associated genes, we decided to ... ...

Abstract	Background: Pulmonary arterial hypertension (PAH) has an identifiable genetic cause in 5% of all PAH cases. Due to health benefits conferred by the early detection of PAH and the recent identification of additional PAH-associated genes, we decided to offer (extended) genetic testing to all incident and prevalent idiopathic PAH (iPAH) and pulmonary veno-occlusive disease (PVOD) patients in our clinic. Here, we report the lessons learned from (re-)contacting iPAH/PVOD patients concerning the uptake and analysis of identified PAH-associated genes and patient perspectives of the approach. Methods: Between January 2018 and April 2020, all iPAH/PVOD patients who were not previously genetically tested (contact group) and those who tested negative on prior analysis of BMPR2 and SMAD9 variants (re-contact group) were (re-)contacted for (additional) genetic testing. Results: With our approach, 58% of patients (84 out of 165) opted for genetic counselling, and a pathogenic variant was found in 12% of cases (n = 10) (re-contact group, 11%, and contact group, 13%). Eighty-six percent of participants of the survey study appreciated being (re-)contacted for genetic testing. Mild psychosocial impacts were observed. Conclusions: Our report shows the importance of (re-)contact and interest of patients (as indicated by the uptake, mild psychosocial impact and appreciation) in PAH.
Keywords	hypertension ; patients ; pulmonary artery ; surveys
Language	English
Dates of publication	2021-0928
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes12101540
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: TGFBR1

Alaamery, Manal / Albesher, Nour / Alhabshan, Fahad / Barnett, Phil / Salim Kabbani, Mohamed / Chaikhouni, Farah / Ilgun, Aho / Mook, Olaf R F / Alsaif, Hessa / Christoffels, Vincent M / van Tintelen, Peter / Wilde, Arthur A M / Houweling, Arjan C / Massadeh, Salam / Postma, Alex V

Journal of cardiovascular development and disease

2023 Volume 10, Issue 11

Abstract: Background: Congenital heart diseases (CHD) are the most common congenital malformations in newborns and remain the leading cause of mortality among infants under one year old. Molecular diagnosis is crucial to evaluate the recurrence risk and to ... ...

Abstract	Background: Congenital heart diseases (CHD) are the most common congenital malformations in newborns and remain the leading cause of mortality among infants under one year old. Molecular diagnosis is crucial to evaluate the recurrence risk and to address future prenatal diagnosis. Here, we describe two families with various forms of inherited non-syndromic CHD and the genetic work-up and resultant findings. Methods: Next-generation sequencing (NGS) was employed in both families to uncover the genetic cause. In addition, we performed functional analysis to investigate the consequences of the identified variants in vitro. Results: NGS identified possible causative variants in both families in the protein kinase domain of the TGFBR1 gene. These variants occurred on the same amino acid, but resulted in differently substituted amino acids (p.R398C/p.R398H). Both variants co-segregate with the disease, are extremely rare or unique, and occur in an evolutionary highly conserved domain of the protein. Furthermore, both variants demonstrated a significantly altered TGFBR1-smad signaling activity. Clinical investigation revealed that none of the carriers had (signs of) aortopathy. Conclusion: In conclusion, we describe two families, with various forms of inherited non-syndromic CHD without aortopathies, associated with unique/rare variants in
Language	English
Publishing date	2023-11-09
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2777082-5
ISSN	2308-3425 ; 2308-3425
ISSN (online)	2308-3425
ISSN	2308-3425
DOI	10.3390/jcdd10110455
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Article ; Online: Birt-Hogg-Dubé syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice.

Sriram, Jincey D / van de Beek, Irma / Johannesma, Paul C / van Werkum, Michiel H / van der Wel, Tijmen J W T / Wessels, Elise M / Gille, Hans J J P / Houweling, Arjan C / Postmus, Pieter E / Smit, Hans J M

BMC pulmonary medicine

2022 Volume 22, Issue 1, Page(s) 325

Abstract: Background: Birt-Hogg-Dubé syndrome (BHD) is an inherited disease caused by pathogenic variants in the FLCN gene. One of the characteristics is the increased risk for spontaneous pneumothorax, likely due to the presence of pulmonary cysts mainly ... ...

Abstract	Background: Birt-Hogg-Dubé syndrome (BHD) is an inherited disease caused by pathogenic variants in the FLCN gene. One of the characteristics is the increased risk for spontaneous pneumothorax, likely due to the presence of pulmonary cysts mainly distributed under the carina. Due to variable expression and lack of awareness, BHD is likely to be underdiagnosed. We aimed to examine the prevalence of BHD in patients presenting with an apparent primary spontaneous pneumothorax and to evaluate the contribution of chest CT in establishing the diagnosis. Methods: Patients who presented with apparent primary spontaneous pneumothorax between 2004 and 2017 in a large Dutch teaching hospital were enrolled in this quantitative cross-sectional study. A questionnaire was sent to eligible patients. Patients who completed the questionnaire and consented to further participation were invited to visit the hospital for genetic testing and low dose, volumetric chest CT. Results: Genetic testing was performed in 88 patients with apparent primary spontaneous pneumothorax. Three patients were found to have a pathogenic variant in the FLCN gene (3.4%). No variants of unknown significance were detected. Pulmonary cysts were detected in 14 out of 83 participants with an available chest CT, six had more than one cyst. All three patients with BHD had multiple pulmonary cysts. Conclusions: Based on previous literature and the present study, we believe that performing a chest CT in every patient presenting with primary spontaneous pneumothorax is justified. Subsequent genetic testing of the FLCN gene should be considered when multiple pulmonary cysts are present. Trial registration: The study was registered at clinicaltrials.gov with reference NCT02916992. Three out of 88 patients with an apparent primary spontaneous pneumothorax were diagnosed with Birt-Hogg-Dubé syndrome in this study and all three had multiple pulmonary cysts. We believe that performing a chest CT in every patient with an apparent primary spontaneous pneumothorax is justified to identify underlying diseases.
MeSH term(s)	Birt-Hogg-Dube Syndrome ; Cross-Sectional Studies ; Cysts ; Humans ; Lung Diseases ; Pneumothorax
Language	English
Publishing date	2022-08-26
Publishing country	England
Document type	Clinical Study ; Journal Article
ZDB-ID	2059871-3
ISSN	1471-2466 ; 1471-2466
ISSN (online)	1471-2466
ISSN	1471-2466
DOI	10.1186/s12890-022-02107-7
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