RESUMEN

BACKGROUND: Multimorbidity and functional limitation are associated with poor outcomes in heart failure (HF). However, the individual and combined effect of these on health-related quality of life in patients with HF is not well understood. METHODS: Patients aged ≥30 years with two or more HF diagnostic codes and one or more HF-related prescription drugs from four U.S. institutions were mailed a survey to measure patient-centric factors including functional status (activities of daily living [ADLs]) and health-related quality of life (PROMIS-29 Health Profile). Patients with HF from January 1, 2013 to February 1, 2018 were included. Multimorbidity was defined as ≥2 non-cardiovascular comorbidities; functional limitation as any limitation in at least one of eight ADLs. Patients were categorized into four groups by multimorbidity (Yes/No) and functional limitation (Yes/No). We dichotomized the PROMIS-29 sub-scale scores at the median and calculated odd ratios for the four multimorbidity/functional limitation groups. RESULTS: A total of 3330 patients with HF returned the survey (response rate 31%); 3020 completed the questions of interest and were retained. Among these patients (45% female; mean age 73 [standard deviation: 12] years), 29% had neither multimorbidity nor functional limitation, 24% had multimorbidity only, 22% had functional limitation only, and 25% had both. After adjustment, having functional limitation only was associated with higher anxiety (odds ratio [OR]: 3.44, 95% confidence interval [CI]: 2.66-4.45), depression (OR: 3.11, 95% CI: 2.39-4.06), and fatigue (OR: 4.19, 95% CI: 3.25-5.40); worse sleep (OR: 2.14, 95% CI: 1.69-2.72) and pain (OR: 6.73, 95% CI: 5.15-8.78); and greater difficulty with social activities (OR: 9.40, 95% CI: 7.19-12.28) compared with having neither. Results were similar for having both multimorbidity and functional limitation. CONCLUSION: Patients with only functional limitation have similar poor health-related quality of life scores as those with both multimorbidity and functional limitation, underscoring the important role that physical functioning plays in the well-being of patients with HF.

Asunto(s)

Actividades Cotidianas , Insuficiencia Cardíaca , Multimorbilidad , Calidad de Vida , Humanos , Insuficiencia Cardíaca/psicología , Insuficiencia Cardíaca/epidemiología , Insuficiencia Cardíaca/fisiopatología , Masculino , Femenino , Calidad de Vida/psicología , Anciano , Persona de Mediana Edad , Estados Unidos/epidemiología , Encuestas y Cuestionarios , Estado Funcional , Anciano de 80 o más Años

RESUMEN

BACKGROUND: Most patients with heart failure (HF) have multimorbidity which may cause difficulties with self-management. Understanding the resources patients draw upon to effectively manage their health is fundamental to designing new practice models to improve outcomes in HF. We describe the rationale, conceptual framework, and implementation of a multi-center survey of HF patients, characterize differences between responders and non-responders, and summarize patient characteristics and responses to the survey constructs among responders. METHODS: This was a multi-center cross-sectional survey study with linked electronic health record (EHR) data. Our survey was guided by the Chronic Care Model to understand the distribution of patient-centric factors, including health literacy, social support, self-management, and functional and mental status in patients with HF. Most questions were from existing validated questionnaires. The survey was administered to HF patients aged ≥ 30 years from 4 health systems in PCORnet® (the National Patient-Centered Clinical Research Network): Essentia Health, Intermountain Health, Mayo Clinic, and The Ohio State University. Each health system mapped their EHR data to a standardized PCORnet Common Data Model, which was used to extract demographic and clinical data on survey responders and non-responders. RESULTS: Across the 4 sites, 10,662 patients with HF were invited to participate, and 3330 completed the survey (response rate: 31%). Responders were older (74 vs. 71 years; standardized difference (95% CI): 0.18 (0.13, 0.22)), less racially diverse (3% vs. 12% non-White; standardized difference (95% CI): -0.32 (-0.36, -0.28)), and had higher prevalence of many chronic conditions than non-responders, and thus may not be representative of all HF patients. The internal reliability of the validated questionnaires in our survey was good (range of Cronbach's alpha: 0.50-0.96). Responders reported their health was generally good or fair, they frequently had cardiovascular comorbidities, > 50% had difficulty climbing stairs, and > 10% reported difficulties with bathing, preparing meals, and using transportation. Nearly 80% of patients had family or friends sit with them during a doctor visit, and 54% managed their health by themselves. Patients reported generally low perceived support for self-management related to exercise and diet. CONCLUSIONS: More than half of patients with HF managed their health by themselves. Increased understanding of self-management resources may guide the development of interventions to improve HF outcomes.

Asunto(s)

Alfabetización en Salud , Insuficiencia Cardíaca , Automanejo , Apoyo Social , Humanos , Insuficiencia Cardíaca/terapia , Insuficiencia Cardíaca/psicología , Estudios Transversales , Femenino , Masculino , Anciano , Alfabetización en Salud/estadística & datos numéricos , Persona de Mediana Edad , Adulto , Encuestas y Cuestionarios , Anciano de 80 o más Años , Estado de Salud

RESUMEN

Heart failure and cardiomyopathy are significant contributors to pregnancy-related deaths, as maternal morbidity and mortality have been increasing over time. In this setting, the role of the multidisciplinary cardio-obstetrics team is crucial to optimizing maternal, obstetrical and fetal outcomes. Although peripartum cardiomyopathy is the most common cardiomyopathy experienced by pregnant individuals, the hemodynamic changes of pregnancy may unmask a pre-existing cardiomyopathy leading to clinical decompensation. Additionally, there are unique management considerations for women with pre-existing cardiomyopathy as well as for those women with advanced heart failure who may be on left ventricular assist device support or have undergone heart transplantation. The purpose of this review is to discuss: 1) preconception counseling; 2) risk stratification and management strategies for pregnant women extending to the postpartum "fourth trimester" with pre-existing heart failure or "pre-heart failure;" 3) the safety of heart failure medications during pregnancy and lactation; and 4) management of pregnancy for women on left ventricular assist device support or after heart transplantation.

Asunto(s)

Insuficiencia Cardíaca , Trasplante de Corazón , Corazón Auxiliar , Obstetricia , Embarazo , Femenino , Humanos , Insuficiencia Cardíaca/complicaciones , Insuficiencia Cardíaca/terapia , Corazón

RESUMEN

Pregnancy after thoracic organ transplantation is feasible for select individuals but requires multidisciplinary subspecialty care. Key components for a successful pregnancy after lung or heart transplantation include preconception and contraceptive planning, thorough risk stratification, optimization of maternal comorbidities and fetal health through careful monitoring, and open communication with shared decision-making. The goal of this consensus statement is to summarize the current evidence and provide guidance surrounding preconception counseling, patient risk assessment, medical management, maternal and fetal outcomes, obstetric management, and pharmacologic considerations.

Asunto(s)

Consejo , Salud Reproductiva , Embarazo , Femenino , Humanos , Consenso

Asunto(s)

Insuficiencia de la Válvula Aórtica , Enfermedades de las Válvulas Cardíacas , Insuficiencia de la Válvula Mitral , Estenosis de la Válvula Mitral , Humanos

Asunto(s)

Insuficiencia Cardíaca , Insuficiencia Cardíaca/diagnóstico , Insuficiencia Cardíaca/terapia , Humanos

Asunto(s)

Insuficiencia Cardíaca , Adhesión a Directriz , Insuficiencia Cardíaca/diagnóstico , Insuficiencia Cardíaca/tratamiento farmacológico , Humanos , Pautas de la Práctica en Medicina

RESUMEN

In response to the COVID-19 pandemic, US federal and state governments have implemented wide-ranging stay-at-home recommendations as a means to reduce spread of infection. As a consequence, many US healthcare systems and practices have curtailed ambulatory clinic visits-pillars of care for patients with heart failure (HF). In this context, synchronous audio/video interactions, also known as virtual visits (VVs), have emerged as an innovative and necessary alternative. This scientific statement outlines the benefits and challenges of VVs, enumerates changes in policy and reimbursement that have increased the feasibility of VVs during the COVID-19 era, describes platforms and models of care for VVs, and provides a vision for the future of VVs.

Asunto(s)

Atención Ambulatoria/organización & administración , Betacoronavirus , Infecciones por Coronavirus/epidemiología , Insuficiencia Cardíaca/terapia , Neumonía Viral/epidemiología , Telemedicina/organización & administración , COVID-19 , Infecciones por Coronavirus/prevención & control , Política de Salud , Humanos , Pandemias/prevención & control , Neumonía Viral/prevención & control , Mecanismo de Reembolso , SARS-CoV-2 , Sociedades Médicas , Estados Unidos

RESUMEN

OBJECTIVE: Using augmented intelligence clinical decision tools and a risk score-guided multidisciplinary team-based care process (MTCP), this study evaluated the MTCP for heart failure (HF) patients' 30-day readmission and 30-day mortality across 20 Intermountain Healthcare hospitals. BACKGROUND: HF inpatient care and 30-day post-discharge management require quality improvement to impact patient health, optimize utilization, and avoid readmissions. METHODS: HF inpatients (N = 6182) were studied from January 2013 to November 2016. In February 2014, patients began receiving care via the MTCP based on a phased implementation in which the 8 largest Intermountain hospitals (accounting for 89.8% of HF inpatients) were crossed over sequentially in a stepped manner from control to MTCP over 2.5 years. After implementation, patient risk scores were calculated within 24 hours of admission and delivered electronically to clinicians. High-risk patients received MTCP care (n = 1221), while lower-risk patients received standard HF care (n = 1220). Controls had their readmission and mortality scores calculated retrospectively (high risk: n = 1791; lower risk: n = 1950). RESULTS: High-risk MTCP recipients had 21% lower 30-day readmission compared to high-risk controls (adjusted P = .013, HR = 0.79, CI = 0.66, 0.95) and 52% lower 30-day mortality (adjusted P < .001, HR = 0.48, CI = 0.33, 0.69). Lower-risk patients did not experience increased readmission (adjusted HR = 0.88, P = .19) or mortality (adjusted HR = 0.88, P = .61). Some utilization was higher, such as prescription of home health, for MTCP recipients, with no changes in length of stay or overall costs. CONCLUSIONS: A risk score-guided MTCP was associated with lower 30-day readmission and 30-day mortality in high-risk HF inpatients. Further evaluation of this clinical management approach is required.

Asunto(s)

Insuficiencia Cardíaca/mortalidad , Insuficiencia Cardíaca/terapia , Grupo de Atención al Paciente , Readmisión del Paciente/estadística & datos numéricos , Anciano , Causas de Muerte , Estudios Cruzados , Técnicas de Apoyo para la Decisión , Femenino , Humanos , Pacientes Internos , Masculino , Readmisión del Paciente/economía , Medicina de Precisión , Mejoramiento de la Calidad , Medición de Riesgo , Factores de Tiempo

RESUMEN

BACKGROUND: Among chronic diseases, heart failure is a top public health priority both in France and in the United States. If progress is possible in France, the experience from Intermountain Healthcare (IH), in the United States can be a source of significant experimentations. AIM: To identify the teaching of the clinical integration of the specialists in the field of heart failure with the primary care sector which could be useful in France. METHODS: This research is based on the qualitative analysis of data resulting from the work between experts, of bibliographical research, and of some groupings by item corresponding to the objectives of the Triple Aim from the Institute for Healthcare Improvement (IHI). RESULTS: The program of the integrated care delivery system for heart failure of Intermountain Healthcare reaches the objectives of the Triple Aim from the IHI, that is to say, the enhancement of the health of the population, improving quality of care and the satisfaction of the user, and the reduction of the cost of care. This program also enhances the Chronic Care Model by integrating a team of specialists in the field of heart failure, building up a pluridisciplinary team focused on the need of both the patients and their families. This creates a multidisciplinary care delivery system for heart failure which is global, protocolized, stratified, planned and followed. The prevention and the ambulatory care integrating the specialized care of second stage to the care of first stage are developed. The users and their families are co-responsible for their health. The systematic evaluation is based on the specific indicators. DISCUSSION: This program improves the effectiveness of care while improving organizational efficiency resulting in savings for IH Health Plan (SelectHealth). It also enhances the equality of access to better healthcare and health for the entire population.

Asunto(s)

Prestación Integrada de Atención de Salud/organización & administración , Insuficiencia Cardíaca/terapia , Grupo de Atención al Paciente , Atención Primaria de Salud/organización & administración , Eficiencia Organizacional , Francia , Humanos , Estados Unidos

RESUMEN

BACKGROUND: Patients who need and receive timely advanced heart failure (HF) therapies have better long-term survival. However, many of these patients are not identified and referred as soon as they should be. METHODS: A clinical decision support (CDS) application sent secure email notifications to HF patients' providers when they transitioned to advanced disease. Patients identified with CDS in 2015 were compared with control patients from 2013 to 2014. Kaplan-Meier methods and Cox regression were used in this intention-to-treat analysis to compare differences between visits to specialized and survival. RESULTS: Intervention patients were referred to specialized heart facilities significantly more often within 30 days (57% vs 34%; P < .001), 60 days (69% vs 44%; P < .0001), 90 days (73% vs 49%; P < .0001), and 180 days (79% vs 58%; P < .0001). Age and sex did not predict heart facility visits, but renal disease did and patients of nonwhite race were less likely to visit specialized heart facilities. Significantly more intervention patients were found to be alive at 30 (95% vs 92%; P = .036), 60 (95% vs 90%; P = .0013), 90 (94% vs 87%; P = .0002), and 180 days (92% vs 84%; P = .0001). Age, sex, and some comorbid diseases were also predictors of mortality, but race was not. CONCLUSIONS: We found that CDS can facilitate the early identification of patients needing advanced HF therapy and that its use was associated with significantly more patients visiting specialized heart facilities and longer survival.

Asunto(s)

Sistemas de Apoyo a Decisiones Clínicas/normas , Insuficiencia Cardíaca/diagnóstico por imagen , Insuficiencia Cardíaca/terapia , Selección de Paciente , Derivación y Consulta/normas , Anciano , Sistemas de Apoyo a Decisiones Clínicas/tendencias , Femenino , Humanos , Masculino , Persona de Mediana Edad , Derivación y Consulta/tendencias , Estudios Retrospectivos

RESUMEN

Improving 30-day readmission continues to be problematic for most hospitals. This study reports the creation and validation of sex-specific inpatient (i) heart failure (HF) risk scores using electronic data from the beginning of inpatient care for effective and efficient prediction of 30-day readmission risk. METHODS: HF patients hospitalized at Intermountain Healthcare from 2005 to 2012 (derivation: n=6079; validation: n=2663) and Baylor Scott & White Health (North Region) from 2005 to 2013 (validation: n=5162) were studied. Sex-specific iHF scores were derived to predict post-hospitalization 30-day readmission using common HF laboratory measures and age. Risk scores adding social, morbidity, and treatment factors were also evaluated. RESULTS: The iHF model for females utilized potassium, bicarbonate, blood urea nitrogen, red blood cell count, white blood cell count, and mean corpuscular hemoglobin concentration; for males, components were B-type natriuretic peptide, sodium, creatinine, hematocrit, red cell distribution width, and mean platelet volume. Among females, odds ratios (OR) were OR=1.99 for iHF tertile 3 vs. 1 (95% confidence interval [CI]=1.28, 3.08) for Intermountain validation (P-trend across tertiles=0.002) and OR=1.29 (CI=1.01, 1.66) for Baylor patients (P-trend=0.049). Among males, iHF had OR=1.95 (CI=1.33, 2.85) for tertile 3 vs. 1 in Intermountain (P-trend <0.001) and OR=2.03 (CI=1.52, 2.71) in Baylor (P-trend < 0.001). Expanded models using 182-183 variables had predictive abilities similar to iHF. CONCLUSIONS: Sex-specific laboratory-based electronic health record-delivered iHF risk scores effectively predicted 30-day readmission among HF patients. Efficient to calculate and deliver to clinicians, recent clinical implementation of iHF scores suggest they are useful and useable for more precise clinical HF treatment.

Asunto(s)

Insuficiencia Cardíaca/sangre , Readmisión del Paciente/estadística & datos numéricos , Medición de Riesgo/métodos , Adolescente , Antagonistas Adrenérgicos beta/uso terapéutico , Adulto , Anciano , Anciano de 80 o más Años , Antagonistas de Receptores de Angiotensina/uso terapéutico , Inhibidores de la Enzima Convertidora de Angiotensina/uso terapéutico , Anticoagulantes/uso terapéutico , Bicarbonatos/sangre , Nitrógeno de la Urea Sanguínea , Bloqueadores de los Canales de Calcio/uso terapéutico , Cardiotónicos/uso terapéutico , Creatinina/sangre , Diuréticos/uso terapéutico , Recuento de Eritrocitos , Índices de Eritrocitos , Insuficiencia Cardíaca/tratamiento farmacológico , Hematócrito , Hospitalización , Humanos , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Hipoglucemiantes/uso terapéutico , Recuento de Leucocitos , Modelos Logísticos , Persona de Mediana Edad , Análisis Multivariante , Péptido Natriurético Encefálico/sangre , Oportunidad Relativa , Inhibidores de Agregación Plaquetaria/uso terapéutico , Potasio/sangre , Modelos de Riesgos Proporcionales , Reproducibilidad de los Resultados , Factores Sexuales , Sodio/sangre , Vasoconstrictores/uso terapéutico , Adulto Joven

Asunto(s)

American Heart Association , Cardiología/normas , Cardiomiopatía Dilatada/terapia , Cardiomiopatía Dilatada/diagnóstico , Cardiomiopatía Dilatada/epidemiología , Cardiomiopatía Dilatada/fisiopatología , Consenso , Medicina Basada en la Evidencia , Humanos , Pronóstico , Factores de Riesgo , Factores de Tiempo , Estados Unidos

RESUMEN

OBJECTIVE: Develop and evaluate an automated identification and predictive risk report for hospitalized heart failure (HF) patients. METHODS: Dictated free-text reports from the previous 24 h were analyzed each day with natural language processing (NLP), to help improve the early identification of hospitalized patients with HF. A second application that uses an Intermountain Healthcare-developed predictive score to determine each HF patient's risk for 30-day hospital readmission and 30-day mortality was also developed. That information was included in an identification and predictive risk report, which was evaluated at a 354-bed hospital that treats high-risk HF patients. RESULTS: The addition of NLP-identified HF patients increased the identification score's sensitivity from 82.6% to 95.3% and its specificity from 82.7% to 97.5%, and the model's positive predictive value is 97.45%. Daily multidisciplinary discharge planning meetings are now based on the information provided by the HF identification and predictive report, and clinician's review of potential HF admissions takes less time compared to the previously used manual methodology (10 vs 40 min). An evaluation of the use of the HF predictive report identified a significant reduction in 30-day mortality and a significant increase in patient discharges to home care instead of to a specialized nursing facility. CONCLUSIONS: Using clinical decision support to help identify HF patients and automatically calculating their 30-day all-cause readmission and 30-day mortality risks, coupled with a multidisciplinary care process pathway, was found to be an effective process to improve HF patient identification, significantly reduce 30-day mortality, and significantly increase patient discharges to home care.

Asunto(s)

Toma de Decisiones Asistida por Computador , Registros Electrónicos de Salud , Insuficiencia Cardíaca/diagnóstico , Procesamiento de Lenguaje Natural , Medición de Riesgo , Análisis de Varianza , Femenino , Insuficiencia Cardíaca/mortalidad , Insuficiencia Cardíaca/terapia , Sistemas de Información en Hospital , Hospitalización , Humanos , Masculino , Readmisión del Paciente , Proyectos Piloto , Sensibilidad y Especificidad , Índice de Severidad de la Enfermedad

Asunto(s)

Insuficiencia Cardíaca/enfermería , Enfermeras y Enfermeros/organización & administración , Educación del Paciente como Asunto/métodos , Humanos , Sociedades de Enfermería , Estados Unidos

Asunto(s)

Educación de Postgrado en Enfermería/normas , Insuficiencia Cardíaca/enfermería , Liderazgo , Modelos de Enfermería , Investigación en Enfermería/organización & administración , Guías de Práctica Clínica como Asunto , Competencia Profesional , Hospitales Universitarios , Humanos , Enfermeras Clínicas/organización & administración , Enfermeras Practicantes/organización & administración , Rol de la Enfermera , Grupo de Atención al Paciente/organización & administración , Educación del Paciente como Asunto , Autonomía Profesional

Asunto(s)

Insuficiencia Cardíaca/terapia , Liderazgo , Enfermería/métodos , Guías de Práctica Clínica como Asunto , Sociedades Médicas , Sociedades de Enfermería , Conducta Cooperativa , Insuficiencia Cardíaca/epidemiología , Humanos , Enfermería/normas , Defensa del Paciente/normas , Guías de Práctica Clínica como Asunto/normas , Sociedades Médicas/normas , Sociedades de Enfermería/normas , Estados Unidos

RESUMEN

BACKGROUND: Nearly 25% of patients with peripartum cardiomyopathy (PPCM) will require cardiac transplantation. Whether post-transplant outcomes differ among patients with PPCM compared with other recipients remains unsettled. METHODS: The United Network for Organ Sharing database was queried for cardiac transplants, comparing characteristics and outcomes for PPCM, other women, and all others. RESULTS: Between 1987 and 2010, 42,406 patients (9,419 women and 32,987 men) received a heart transplant. Of these, 485 women who had PPCM as the indication were younger (p < 0.001), had higher sensitization (p < 0.001), required higher intensity of cardiovascular support pre-transplant (p = 0.026), and had higher listing status (p < 0.001). Those with PPCM had more post-transplant rejection during the index transplant hospitalization (p < 0.001) and during the first year (p = 0.003). Comparing PPCM with other women and all others, graft survival was inferior (p = 0.004 and p < 0.003, respectively) and age-adjusted survival was lower (p < 0.001 and p = 0.02, respectively). CONCLUSIONS: This large report shows outcomes of graft failure and death are inferior for recipients with PPCM, which may be partly explained by younger age, higher allosensitization, higher pre-transplant acuity, and increased rejection. More research is needed to determine management strategies to improve outcomes in PPCM heart transplant recipients.

Asunto(s)

Cardiomiopatías/cirugía , Supervivencia de Injerto , Trasplante de Corazón , Complicaciones Cardiovasculares del Embarazo/cirugía , Trastornos Puerperales/cirugía , Adulto , Femenino , Trasplante de Corazón/estadística & datos numéricos , Humanos , Masculino , Persona de Mediana Edad , Embarazo , Sistema de Registros , Resultado del Tratamiento

RESUMEN

The Intermountain Risk Score (IMRS) encapsulates the mortality risk information from all components of the complete blood count (CBC) and basic metabolic profile (BMP), along with age. To individualize the IMRS more clearly, this study evaluated whether IMRS weightings for 1-year mortality predict age-specific survival over more than a decade of follow-up. Sex-specific 1-year IMRS values were calculated for general medical patients with CBC and BMP laboratory tests drawn during 1999-2005. The population was divided randomly 60% (N = 71,921, examination sample) and 40% (N = 47,458, validation sample). Age-specific risk thresholds were established, and both survival and life expectancy were compared across low-, moderate-, and high-risk IMRS categories. During 7.3 ± 1.8 years of follow-up (range, 4.5-11.1 years), the average IMRS of decedents was higher than censored in all age/sex strata (all P < 0.001). For examination and validation samples, every age stratum had incrementally lower survival for higher risk IMRS, with hazard ratios of 2.5-8.5 (P < 0.001). Life expectancies were also significantly shorter for higher risk IMRS (all P < 0.001): For example, among 50-59 year-olds, life expectancy was 7.5, 6.8, and 5.9 years for women with low-, moderate-, and high-risk IMRS (with mortality in 5.7%, 16.3%, and 37.0% of patients, respectively). In Men, life expectancy was 7.3, 6.8, and 5.4 for low-, moderate-, and high-risk IMRS (with patients having 7.3%, 19.5%, and 40.0% mortality), respectively. IMRS significantly stratified survival and life expectancy within age-defined subgroups during more than a decade of follow-up. IMRS may be used to stratify age-specific risk of mortality in research, clinical/preventive, and quality improvement applications. A web calculator is located at http://intermountainhealthcare.org/IMRS.

Asunto(s)

Esperanza de Vida , Mortalidad , Medición de Riesgo , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Recuento de Células Sanguíneas , Femenino , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Proyectos de Investigación

RESUMEN

BACKGROUND: Peripartum (PP) cardiomyopathy (CM) is a rare condition of unknown etiology that occurs in late pregnancy or early postpartum. Initial evidence suggests that genetic factors may influence PPCM. This study evaluated and replicated genome-wide association of single nucleotide polymorphisms with PPCM. METHODS AND RESULTS: Genome-wide single nucleotide polymorphisms in women with verified PPCM diagnosis (n=41) were compared separately with local control subjects (n=49 postmenopausal age-discordant women with parity ≥1 and no heart failure) and iControls (n=654 women ages 30 to 84 years with unknown phenotypes). A replication study of independent population samples used new cases (PPCM2, n=30) compared with new age-discordant control subjects (local2, n=124) and with younger control subjects (n=89) and obstetric control subjects (n=90). A third case set of pregnancy-associated CM cases not meeting strict PPCM definitions (n=29) was also studied. In the genome-wide association study, 1 single nucleotide polymorphism (rs258415) met genome-wide significance for PPCM versus local control subjects (P=2.06×10(-8); odds ratio [OR], 5.96). This was verified versus iControls (P=7.92×10(-19); OR, 8.52). In the replication study for PPCM2 cases, rs258415 (ORs are per C allele) replicated at P=0.009 versus local2 control subjects (OR, 2.26). This replication was verified for PPCM2 versus younger control subjects (P=0.029; OR, 2.15) and versus obstetric control subjects (P=0.013; OR, 2.44). In pregnancy-associated cardiomyopathy cases, rs258415 had a similar effect versus local2 control subjects (P=0.06; OR, 1.79), younger control subjects (P=0.14; OR, 1.65), and obstetric control subjects (P=0.038; OR, 1.99). CONCLUSIONS: Genome-wide association with PPCM was discovered and replicated for rs258415 at chromosome 12p11.22 near PTHLH. This study indicates a role of genetic factors in PPCM and provides a new locus for further pathophysiological and clinical investigation.

Asunto(s)

Cardiomiopatías/genética , Cromosomas Humanos Par 12/genética , Proteína Relacionada con la Hormona Paratiroidea/genética , Periodo Periparto , Complicaciones Cardiovasculares del Embarazo/genética , Adulto , Estudios de Casos y Controles , Femenino , Genoma Humano , Estudio de Asociación del Genoma Completo , Humanos , Polimorfismo de Nucleótido Simple , Embarazo , Adulto Joven