Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy.
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.


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.
van Spaendonck-Zwarts
Karin Y
KY
Department 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
van Tintelen
J Peter
JP
van Veldhuisen
Dirk J
DJ
van der Werf
Rik
R
Jongbloed
Jan D H
JD
Paulus
Walter J
WJ
Dooijes
Dennis
D
van den Berg
Maarten P
MP
D000328:Adult; D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D009202:Cardiomyopathies / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D002311:Cardiomyopathy, Dilated / Q000145:classification / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005973:Glutamine; D006801:Humans; D009206:Myocardium / Q000378:metabolism; D010375:Pedigree; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics*; D011644:Puerperal Disorders / Q000235:genetics*; D019209:Troponin C / Q000235:genetics / Q000378:metabolism
D019209:Troponin C; D005973:Glutamine; D001120:Arginine