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.

journal_name

Circulation

journal_title

Circulation

authors

van Spaendonck-Zwarts KY,van Tintelen JP,van Veldhuisen DJ,van der Werf R,Jongbloed JD,Paulus WJ,Dooijes D,van den Berg MP

doi

10.1161/CIRCULATIONAHA.109.929646

subject

Has Abstract

pub_date

2010-05-25 00:00:00

pages

2169-75

issue

20

eissn

0009-7322

issn

1524-4539

pii

CIRCULATIONAHA.109.929646

journal_volume

121

pub_type

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