In:
Circulation, Ovid Technologies (Wolters Kluwer Health), Vol. 146, No. Suppl_1 ( 2022-11-08)
Abstract:
Introduction: The genetic architecture of peripartum cardiomyopathy (PPCM) and dilated cardiomyopathy (DCM) overlap, and 15% of patients with PPCM have a disease-causing variant in a DCM-associated gene. Despite the impact of genetics on cascade screening and risk stratification, there are no recommendations for genetic testing in PPCM. We aimed to quantify the percentage of individuals with PPCM referred for genetic testing and to identify factors that may impact the likelihood of referral for genetic testing. Methods : We conducted a retrospective cohort study of 205 patients diagnosed with PPCM from 1986-2018 within the University of Pennsylvania Health System who had outpatient follow-up. We determined the referral rate for genetic testing and examined differences in referral based on race, timing of PPCM diagnosis, hypertensive disorders of pregnancy (HDP), NYHA class at diagnosis, LVEF at diagnosis, family history, recurrent PPCM, and referral to a heart failure specialist. We compared continuous variables using the Student t test and categorical variables using Pearson’s chi-square test. Results : Of 205 patients with PPCM, 23 (11%) were referred for genetic testing. Women referred for genetic testing were more likely to have HDP (61% vs. 37%, p=0.03), LVEF 〈 30% at diagnosis (65% vs. 42%, p=0.04), recurrent PPCM (17% vs. 5%, p=0.04), a first-degree family member with heart failure or cardiomyopathy (70% vs. 17%, p 〈 0.001), and any documented family history at the first cardiology visit (78% vs. 54%, p=0.03). Of those referred, 17 (74%) underwent genetic counseling, and 12 (52%) completed genetic testing. Two patients (17%) had a pathogenic or likely pathogenic variant in TTN and were recommended for cascade screening, and 9 (75%) had variants of unknown significance which were predominately missense variants. Conclusions : A minority of women with PPCM are referred for genetic testing. Referral is largely driven by family history, which may lead to under-diagnosis of pathogenic mutations. Increasing referral rates may improve the detection of pathogenic mutations which may impact the care provided to affected women and their families.
Type of Medium:
Online Resource
ISSN:
0009-7322
,
1524-4539
DOI:
10.1161/circ.146.suppl_1.13143
Language:
English
Publisher:
Ovid Technologies (Wolters Kluwer Health)
Publication Date:
2022
detail.hit.zdb_id:
1466401-X
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