Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy
- PMID: 20458010
- DOI: 10.1161/CIRCULATIONAHA.109.929646
Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy
Abstract
Background: Anecdotal cases of familial clustering of peripartum cardiomyopathy (PPCM) and familial occurrences of PPCM and idiopathic dilated cardiomyopathy (DCM) together have been observed, suggesting that genetic factors play a role in the pathogenesis of PPCM. We hypothesized that some cases of PPCM are part of the spectrum of familial DCM, presenting in the peripartum period.
Methods and results: We reviewed our database of 90 DCM families, focusing specifically on the presence of PPCM patients. Then, in a reverse approach, we reviewed 10 PPCM patients seen in our clinic since the early 1990s and performed cardiological screening of the first-degree relatives of 3 PPCM patients who did not show a full recovery. Finally, we analyzed the genes known to be most commonly involved in DCM in the PPCM patients. We identified a substantial number (5 of 90, 6%) of DCM families with PPCM patients. Second, cardiological screening of first-degree relatives of 3 PPCM patients who did not show full recovery revealed undiagnosed DCM in all 3 families. Finally, genetic analyses revealed a mutation (c.149A>G, p.Gln50Arg) in the gene encoding cardiac troponin C (TNNC1) segregating with disease in a DCM family with a member with PPCM, supporting the genetic nature of disease in this case.
Conclusions: Our findings strongly suggest that a subset of PPCM is an initial manifestation of familial DCM. This may have important implications for cardiological screening in such families.
Comment in
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Birthing the genetics of peripartum cardiomyopathy.Circulation. 2010 May 25;121(20):2157-9. doi: 10.1161/CIRCULATIONAHA.110.956169. Epub 2010 May 10. Circulation. 2010. PMID: 20458008 No abstract available.
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Letter by Baruteau et al regarding article, "Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy".Circulation. 2011 Jan 18;123(2):e8; author reply e9. doi: 10.1161/CIRCULATIONAHA.110.971978. Circulation. 2011. PMID: 21242504 No abstract available.
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