Lamin A/C-Related Cardiac Disease Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation

Edgar T. Hoorntje; Ilse A. Bollen; Daniela Q. Barge-Schaapveld; Florence H. van Tienen; Gerard J. te Meerman; Joeri A. Jansweijer; Anthonie J. van Essen; Paul G. Volders; Alina A. Constantinescu; Peter C. van den Akker; Karin Y. van Spaendonck-Zwarts; Rogier A. Oldenburg; Carlo L. Marcelis; Jasper J. van der Smagt; Eric A. Hennekam; Aryan Vink; Marianne Bootsma; Emmelien Aten; Arthur A. Wilde; Arthur van den Wijngaard; Jos L. Broers; Jan D. Jongbloed; Jolanda van der Velden; Maarten P. van den Berg; J. Peter van Tintelen

doi:10.1161/CIRCGENETICS.116.001631

Lamin A/C-Related Cardiac Disease Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation

Edgar T. Hoorntje, Ilse A. Bollen, Daniela Q. Barge-Schaapveld, Florence H. van Tienen, Gerard J. te Meerman, Joeri A. Jansweijer, Anthonie J. van Essen, Paul G. Volders, Alina A. Constantinescu, Peter C. van den Akker, Karin Y. van Spaendonck-Zwarts, Rogier A. Oldenburg, Carlo L. Marcelis, Jasper J. van der Smagt, Eric A. Hennekam, Aryan Vink, Marianne Bootsma, Emmelien Aten, Arthur A. Wilde, Arthur van den WijngaardJos L. Broers, Jan D. Jongbloed, Jolanda van der Velden, Maarten P. van den Berg, J. Peter van Tintelen^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

31 Citations (Web of Science)

Original language	English
Article number	001631
Number of pages	36
Journal	Circulation : Cardiovascular Genetics
Volume	10
Issue number	4
DOIs	https://doi.org/10.1161/CIRCGENETICS.116.001631
Publication status	Published - Aug 2017

Keywords

atrial fibrillation
atrioventricular block
cardiomyopathy, dilated
lipodystrophy
survival
IDIOPATHIC DILATED CARDIOMYOPATHY
RIGHT-VENTRICULAR CARDIOMYOPATHY
324 UNRELATED PATIENTS
GENE-MUTATIONS
ATRIOVENTRICULAR-BLOCK
MISSENSE MUTATIONS
SUDDEN-DEATH
LMNA CAUSES
HIGH-RISK
SCN5A

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10.1161/CIRCGENETICS.116.001631

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Hoorntje, E. T., Bollen, I. A., Barge-Schaapveld, D. Q., van Tienen, F. H., te Meerman, G. J., Jansweijer, J. A., van Essen, A. J., Volders, P. G., Constantinescu, A. A., van den Akker, P. C., van Spaendonck-Zwarts, K. Y., Oldenburg, R. A., Marcelis, C. L., van der Smagt, J. J., Hennekam, E. A., Vink, A., Bootsma, M., Aten, E., Wilde, A. A., ... van Tintelen, J. P. (2017). Lamin A/C-Related Cardiac Disease Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation. Circulation : Cardiovascular Genetics, 10(4), [001631]. https://doi.org/10.1161/CIRCGENETICS.116.001631

Hoorntje, Edgar T. ; Bollen, Ilse A. ; Barge-Schaapveld, Daniela Q. ; van Tienen, Florence H. ; te Meerman, Gerard J. ; Jansweijer, Joeri A. ; van Essen, Anthonie J. ; Volders, Paul G. ; Constantinescu, Alina A. ; van den Akker, Peter C. ; van Spaendonck-Zwarts, Karin Y. ; Oldenburg, Rogier A. ; Marcelis, Carlo L. ; van der Smagt, Jasper J. ; Hennekam, Eric A. ; Vink, Aryan ; Bootsma, Marianne ; Aten, Emmelien ; Wilde, Arthur A. ; van den Wijngaard, Arthur ; Broers, Jos L. ; Jongbloed, Jan D. ; van der Velden, Jolanda ; van den Berg, Maarten P. ; van Tintelen, J. Peter. / Lamin A/C-Related Cardiac Disease Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation. In: Circulation : Cardiovascular Genetics. 2017 ; Vol. 10, No. 4.

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title = "Lamin A/C-Related Cardiac Disease Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation",

keywords = "atrial fibrillation, atrioventricular block, cardiomyopathy, dilated, lipodystrophy, survival, IDIOPATHIC DILATED CARDIOMYOPATHY, RIGHT-VENTRICULAR CARDIOMYOPATHY, 324 UNRELATED PATIENTS, GENE-MUTATIONS, ATRIOVENTRICULAR-BLOCK, MISSENSE MUTATIONS, SUDDEN-DEATH, LMNA CAUSES, HIGH-RISK, SCN5A",

author = "Hoorntje, {Edgar T.} and Bollen, {Ilse A.} and Barge-Schaapveld, {Daniela Q.} and {van Tienen}, {Florence H.} and {te Meerman}, {Gerard J.} and Jansweijer, {Joeri A.} and {van Essen}, {Anthonie J.} and Volders, {Paul G.} and Constantinescu, {Alina A.} and {van den Akker}, {Peter C.} and {van Spaendonck-Zwarts}, {Karin Y.} and Oldenburg, {Rogier A.} and Marcelis, {Carlo L.} and {van der Smagt}, {Jasper J.} and Hennekam, {Eric A.} and Aryan Vink and Marianne Bootsma and Emmelien Aten and Wilde, {Arthur A.} and {van den Wijngaard}, Arthur and Broers, {Jos L.} and Jongbloed, {Jan D.} and {van der Velden}, Jolanda and {van den Berg}, {Maarten P.} and {van Tintelen}, {J. Peter}",

year = "2017",

month = aug,

doi = "10.1161/CIRCGENETICS.116.001631",

language = "English",

volume = "10",

journal = "Circulation : Cardiovascular Genetics",

issn = "1942-3268",

publisher = "LIPPINCOTT WILLIAMS & WILKINS",

number = "4",

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Hoorntje, ET, Bollen, IA, Barge-Schaapveld, DQ, van Tienen, FH, te Meerman, GJ, Jansweijer, JA, van Essen, AJ, Volders, PG, Constantinescu, AA, van den Akker, PC, van Spaendonck-Zwarts, KY, Oldenburg, RA, Marcelis, CL, van der Smagt, JJ, Hennekam, EA, Vink, A, Bootsma, M, Aten, E, Wilde, AA, van den Wijngaard, A, Broers, JL, Jongbloed, JD, van der Velden, J, van den Berg, MP & van Tintelen, JP 2017, 'Lamin A/C-Related Cardiac Disease Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation', Circulation : Cardiovascular Genetics, vol. 10, no. 4, 001631. https://doi.org/10.1161/CIRCGENETICS.116.001631

Lamin A/C-Related Cardiac Disease Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation. / Hoorntje, Edgar T.; Bollen, Ilse A.; Barge-Schaapveld, Daniela Q.; van Tienen, Florence H.; te Meerman, Gerard J.; Jansweijer, Joeri A.; van Essen, Anthonie J.; Volders, Paul G.; Constantinescu, Alina A.; van den Akker, Peter C.; van Spaendonck-Zwarts, Karin Y.; Oldenburg, Rogier A.; Marcelis, Carlo L.; van der Smagt, Jasper J.; Hennekam, Eric A.; Vink, Aryan; Bootsma, Marianne; Aten, Emmelien; Wilde, Arthur A.; van den Wijngaard, Arthur; Broers, Jos L.; Jongbloed, Jan D.; van der Velden, Jolanda; van den Berg, Maarten P.; van Tintelen, J. Peter.

In: Circulation : Cardiovascular Genetics, Vol. 10, No. 4, 001631, 08.2017.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Lamin A/C-Related Cardiac Disease Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation

AU - Hoorntje, Edgar T.

AU - Bollen, Ilse A.

AU - Barge-Schaapveld, Daniela Q.

AU - van Tienen, Florence H.

AU - te Meerman, Gerard J.

AU - Jansweijer, Joeri A.

AU - van Essen, Anthonie J.

AU - Volders, Paul G.

AU - Constantinescu, Alina A.

AU - van den Akker, Peter C.

AU - van Spaendonck-Zwarts, Karin Y.

AU - Oldenburg, Rogier A.

AU - Marcelis, Carlo L.

AU - van der Smagt, Jasper J.

AU - Hennekam, Eric A.

AU - Vink, Aryan

AU - Bootsma, Marianne

AU - Aten, Emmelien

AU - Wilde, Arthur A.

AU - van den Wijngaard, Arthur

AU - Broers, Jos L.

AU - Jongbloed, Jan D.

AU - van der Velden, Jolanda

AU - van den Berg, Maarten P.

AU - van Tintelen, J. Peter

PY - 2017/8

Y1 - 2017/8

KW - atrial fibrillation

KW - atrioventricular block

KW - cardiomyopathy, dilated

KW - lipodystrophy

KW - survival

KW - IDIOPATHIC DILATED CARDIOMYOPATHY

KW - RIGHT-VENTRICULAR CARDIOMYOPATHY

KW - 324 UNRELATED PATIENTS

KW - GENE-MUTATIONS

KW - ATRIOVENTRICULAR-BLOCK

KW - MISSENSE MUTATIONS

KW - SUDDEN-DEATH

KW - LMNA CAUSES

KW - HIGH-RISK

KW - SCN5A

U2 - 10.1161/CIRCGENETICS.116.001631

DO - 10.1161/CIRCGENETICS.116.001631

M3 - Article

C2 - 28790152

VL - 10

JO - Circulation : Cardiovascular Genetics

JF - Circulation : Cardiovascular Genetics

SN - 1942-3268

IS - 4

M1 - 001631

ER -