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Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy
Karin Y van Spaendonck-Zwarts1, J Peter van Tintelen, Dirk J van Veldhuisen
1Department of Genetics, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, PO Box 30001, 9700 RB Groningen, the Netherlands. k.y.spaendonck@medgen.umcg.nl
Circulation
|May 12, 2010
Summary
Genetic factors may link peripartum cardiomyopathy (PPCM) to familial dilated cardiomyopathy (DCM). Some PPCM cases appear to be early signs of inherited DCM, impacting family screening strategies.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Familial clustering of peripartum cardiomyopathy (PPCM) and dilated cardiomyopathy (DCM) suggests genetic involvement.
- Genetic factors are hypothesized to contribute to PPCM pathogenesis.
- PPCM may represent a peripartum presentation of familial DCM spectrum.
Purpose of the Study:
- To investigate the potential link between PPCM and familial DCM.
- To determine if PPCM cases are part of the familial DCM spectrum.
- To explore genetic factors in PPCM.
Main Methods:
- Reviewed 90 DCM families for PPCM patients.
- Screened first-degree relatives of 3 PPCM patients.
- Performed genetic analysis on PPCM patients and DCM families.
Main Results:
- Identified PPCM patients in 6% of DCM families.
- Undiagnosed DCM found in relatives of PPCM patients.
- Identified a TNNC1 gene mutation segregating with disease in a DCM family with a PPCM member.
Conclusions:
- A subset of PPCM cases are likely initial manifestations of familial DCM.
- Findings have implications for cardiological screening in families with PPCM or DCM.
- Genetic factors play a significant role in PPCM pathogenesis.
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