Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy

Spaendonck‐Zwarts, Karin Y. van; Pósafalvi, Anna; Berg, Maarten P. van den; Hilfiker‐Kleiner, Denise; Bollen, Ilse A. E.; Sliwa, Karen; Alders, Mariëlle; Almomani, Rowida; Langen, Irene M. van; Meer, Peter van der; Sinke, Richard J.; Velden, Jolanda van der; Veldhuisen, Dirk J. van; Tintelen, J. Peter van; Jongbloed, Jan D. H.

doi:10.1093/eurheartj/ehu050

Cited by 172 publications

(119 citation statements)

References 39 publications

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“…W Stanach Zjednoczonych oszacowana śmiertelność związana z kardiomiopatią okołoporodową wynosi 6-10% [703]. Najnowsze badania wskazują, że kardiomiopatia okołoporodowa może być klinicznym przejawem rodzinnej DCM związanej z mutacjami genów [704].…”

Section: Zaburzenia Rytmu Związane Z Kardiomiopatią Okołoporodowąunclassified

2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death

Priori

Blomström‐Lundqvist²,

Mazzanti³

et al. 2015

Kardiol Pol

233

337

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Section: Zaburzenia Rytmu Związane Z Kardiomiopatią Okołoporodowąunclassified

2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death

Priori

Blomström‐Lundqvist²,

Mazzanti³

et al. 2015

Kardiol Pol

233

337

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“…56 Two groups recently evaluated rare pedigrees of patients affected by both PPCM and DCM and identified variants in genes encoding myofibrillar proteins, including TTN, the gene encoding the sarcomere protein titin. 118,119 Whether similar variants would be found in common, sporadic PPCM remains uncertain.…”

Section: Geneticsmentioning

confidence: 99%

Peripartum Cardiomyopathy

2016

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Abstract-Peripartum cardiomyopathy is a potentially life-threatening pregnancy-associated disease that typically arises in the peripartum period and is marked by left ventricular dysfunction and heart failure. The disease is relatively uncommon, but its incidence is rising. Women often recover cardiac function, but long-lasting morbidity and mortality are not infrequent. Management of peripartum cardiomyopathy is largely limited to the same neurohormonal antagonists used in other forms of cardiomyopathy, and no proven disease-specific therapies exist yet. Research in the past decade has suggested that peripartum cardiomyopathy is caused by vascular dysfunction, triggered by late-gestational maternal hormones. Most recently, information has also indicated that many cases of peripartum cardiomyopathy have genetic underpinnings. We review here the known epidemiology, clinical presentation, and management of peripartum cardiomyopathy, as well as the current knowledge of the pathophysiology of the disease.

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“…After these findings, the same group collected 18 more families with PPCM and DCM from various countries and found that titin gene (TTN) mutations were the most common variant among the families. 25 In another study from the USA, Morales et al made similar observations in a large cohort study. Of 4,110 women from 520 pedigrees in the familial DCM database, 45 cases of PPCM were identified.…”

Section: Ppcm and Dcmmentioning

confidence: 64%