Genetic testing + prevention of anaemia and pre-eclampsia may reduce peripartum cardiomyopathy

Early recognition and awareness of signs and symptoms as well as genetic testing for predisposition may reduce the incidence of peripartum cardiomyopathy (PPCM), according to findings of a Hong Kong population-based study.

In the retrospective study involving women who delivered at all Hong Kong’s public hospitals between January 2013 and December 2022, 30 Asian women were diagnosed with PPCM (according to the 2010 European Society of Cardiology Working Group criteria). This corresponds to an incidence of 1 in 11,179 live births, vs global incidence ranging from 1 in 100 in Nigeria to 1 in 20,000 in Japan. [Hong Kong Med J 2025;31:434-444]

Of these 30 women, 11 (36.7 percent) had antepartum onset of symptoms and 25 (83.3 percent) were diagnosed after childbirth, most of whom presented with severe symptoms (90 percent). The median left ventricular (LV) ejection fraction was 30 percent (range, 10–44 percent). Notable PPCM complications included cardiogenic shock (10 percent), respiratory failure (23.3 percent), acute renal failure (23.3 percent), and thromboembolism (23.3 percent).

Most women received treatment with guideline-directed therapy for heart failure with reduced ejection fraction in nonpregnant patients, which included diuretics, angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARBs), mineralocorticoid receptor antagonists, vasodilators, beta-blockers and anticoagulants. Care was taken to avoid drugs contraindicated in pregnancy.

At 12 months, cardiac recovery occurred in 60 percent. Delayed diagnosis has been associated with lower rates of LV recovery. Among those with antepartum-onset symptoms, 54.5 percent were diagnosed postpartum. The authors attributed this delay to the difficulty in distinguishing PPCM from normal physiological changes in pregnancy, as PPCM symptoms often mimic those of late gestation and may only be recognized postpartum when they become more pronounced. Early recognition and awareness among both pregnant women and healthcare professionals are thus crucial in enabling prompt initiation of heart failure therapy, which may improve cardiac recovery. 

All-cause mortality rate at 12 months was 6.7 percent. The two patients who died of myocardial infarction and pulmonary embolism had poor social support and did not adhere to treatment or attend follow-up visits, which likely contributed to their adverse outcomes.

“These findings highlight the need for greater public awareness, improved medication compliance, and stronger social support systems. We recommend enhanced nursing outreach and structured patient education, along with postdischarge monitoring to optimize outcomes,” wrote the authors.

Genetic testing (for cardiomyopathy-related genes – TTN, FLNC, MYBPC3, NEXN) using next-generation sequencing identified potentially pathogenic variants in at least 10 percent of the women. Antenatal anaemia, present in 50 percent of the women, and hypertensive disorders of pregnancy (40 percent of the women had pre-eclampsia) were associated with higher odds of PPCM.

Eleven women had 13 subsequent pregnancies (nine had confirmed cardiac function recovery before conception),  which resulted in three  miscarriages, five terminations, and five live births. There were no maternal deaths or cases of recurrent PPCM in the subsequent pregnancies.

While PPCM is uncommon in Hong Kong, it is potentially fatal. The authors concluded from the findings of this study that screening for and prevention of anaemia and pre-eclampsia may help reduce the incidence of PPCM. Integration of genetic testing in PPCM management could also support personalized medical care.