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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Titin genemutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy
European Heart Journal, Volume 35, No. 32, Year 2014
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Description
Aim: Peripartum cardiomyopathy (PPCM) can be an initial manifestation of familial dilated cardiomyopathy (DCM).We aimed to identify mutations in families that could underlie their PPCM and DCM. Methods and results: We collected 18 families withPPCMandDCMcases from various countries.We studied the clinical characteristics of the PPCMpatients and affected relatives, and applied a targeted next-generation sequencing (NGS) approach to detect mutations in 48 genes known to be involved in inherited cardiomyopathies.We identified 4 pathogenic mutations in 4 of 18 families (22%): 3 in TTN and 1 in BAG3. In addition, we identified 6 variants of unknown clinical significance that may be pathogenic in 6 other families (33%): 4 in TTN, 1 in TNNC1, and 1 in MYH7. Measurements of passive force in single cardiomyocytes and titin isoform composition potentially support an upgrade of one of the variants of unknown clinical significance in TTN to a pathogenic mutation. Only 2 of 20 PPCM cases in these families showed the recovery of left ventricular function. Conclusion: Targeted NGS shows that potentially causal mutations in cardiomyopathy-related genes are common in families with both PPCM and DCM. This supports the earlier finding thatPPCM can be part of familial DCM. Our cohort is particularly characterized by a high proportion of TTN mutations and a low recovery rate in PPCM cases. ©The Author 2014.
Authors & Co-Authors
van Spaendonck-Zwarts, Karin Y.
Netherlands, Groningen
Universitair Medisch Centrum Groningen
Netherlands, Amsterdam
Universiteit Van Amsterdam
Posafalvi, Anna
Netherlands, Groningen
Universitair Medisch Centrum Groningen
Van Den Berg, Maarten
Netherlands, Groningen
Universitair Medisch Centrum Groningen
Hilfiker-Kleiner, Denise
Germany, Hannover
Hannover Medical School
Bollen, Ilse A.E.
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
Sliwa, Karen S.
South Africa, Cape Town
University of Cape Town
Alders, Mariëlle
Netherlands, Amsterdam
Universiteit Van Amsterdam
Almomani, Rowida
Netherlands, Groningen
Universitair Medisch Centrum Groningen
van Langen, Irene M.
Netherlands, Groningen
Universitair Medisch Centrum Groningen
van der Meer, Peter
Netherlands, Groningen
Universitair Medisch Centrum Groningen
Sinke, Richard J.
Netherlands, Groningen
Universitair Medisch Centrum Groningen
Van Der Velden, Jolanda
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
van Veldhuisen, Dirk Jan
Netherlands, Groningen
Universitair Medisch Centrum Groningen
Van Tintelen, J. Peter
Netherlands, Groningen
Universitair Medisch Centrum Groningen
Netherlands, Utrecht
Durrer Center for Cardiogenetic Research
Jongbloed, Jan D.H.
Netherlands, Groningen
Universitair Medisch Centrum Groningen
Statistics
Citations: 170
Authors: 15
Affiliations: 6
Identifiers
Doi:
10.1093/eurheartj/ehu050
ISSN:
0195668X
e-ISSN:
15229645
Research Areas
Cancer
Study Design
Cohort Study