Peripartum Cardiomyopathy Genetic Screening Protocol and Registry

BACKGROUND: Peripartum cardiomyopathy (PPCM) is a pregnancy-associated form of systolic heart failure with high prevalence and mortality worldwide. It occurs in 1:1800 to 1:3500 births in the United States and disproportionately affects women in the Gulf South. Louisiana has the highest maternal mortality rate in the United States, yet no prospective registry exists to investigate the genetic basis of perinatal cardiovascular disorders, creating an urgent need for genetic assessment. OBJECTIVES: The objective of the study was to establish the first PPCM prospective whole-genome sequencing and registry with future expansion to other perinatal cardiovascular disorders. METHODS: The PERCVD (Perinatal-Related Cardiovascular Disorder) Trial is being conducted at Woman's Hospital, Louisiana, in collaboration with The Lundquist Institute at Harbor-UCLA Medical Center. Individuals meeting PPCM-ESC 2019 diagnostic criteria (left ventricular ejection fraction <45% or fractional shortening <30% with chamber dilation, onset between the last month of pregnancy and five months postpartum) are enrolled in the study. Electronic informed consent is obtained through secure REDCap. Patients complete a virtual medical history visit, receive a kit for self-collected DNA, and complete health surveys. Genomic DNA extraction, whole-genome sequencing, and bioinformatic analysis will identify and annotate variants using American College of Medical Genetics and Genomics criteria. A PPCM genetic registry will catalog variant patterns to support future risk stratification. RESULTS: The PERCVD Trial is enrolling patients, and clinical outcome data are not available. This protocol details eligibility criteria, study workflows, genetic testing algorithms, and follow-up design. CONCLUSIONS: This trial is the first structured PPCM genetic screening program in the Gulf that will support precision cardiovascular care in maternal populations.