Postpartum cardiogenic shock with rapid recovery in a Titin gene variant: The role of genetic predisposition in peripartum cardiomyopathy

Peripartum cardiomyopathy is defined as heart failure secondary to left ventricular (LV) dysfunction with a left ventricular ejection fraction <45% occurring towards the end of pregnancy or in the months following delivery without other identifiable cause. Pathogenesis of peripartum cardiomyopathy and the role of genetic variants are unknown. We present a previously healthy 33-year-old woman in her first pregnancy with acute onset of heart failure postpartum. She developed cardiogenic shock four days after caesarean section and was treated with levosimendan, cabergoline, ramipril and bisoprolol. She used a wearable cardioverter/defibrillator for 3 months. After 8 months, she was free of symptoms with normal left ventricular function and brain-natriuretic-peptide-levels. Genetic analysis was carried out due to a positive family history and disclosed a heterozygous variant c7627dupA in the TTN gene. Genetic analysis in patients with a positive family history should be carried out since that may provide insights in the pathogenesis of heart failure due to systolic dysfunction including peripartum cardiomyopathy.