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Heart failure (HF) is a heterogeneous symptomatic disorder. The goal of this study was to identify and link common profiles of physical and psychological symptoms to 1-year event-free survival in adults with moderate to advanced HF. Methods: Multiple valid, reliable, and domain-specific measures were used to assess physical and psychological symptoms. Latent class mixture modeling was used to identify distinct symptom profiles. Associations between observed symptom profiles and 1-year event-free survival were quantified using Cox proportional hazards modeling. Results: The mean age of the participants (n = 202) was 57 ± 13 years, 50% were men, and 60% had class III/IV HF. Three distinct profiles, mild (41.7%), moderate (30.2%), and severe (28.1%), that captured a gradient of both physical and psychological symptom burden were identified (P < .001 for all comparisons). Controlling for the Seattle HF Score, adults with the moderate symptom profile were 82% more likely (hazard ratio, 1.82; 95% confidence interval, 1.07–3.11; P = .028) and adults with the severe symptom profile were more than twice as likely (hazard ratio, 2.06; 95% confidence interval, 1.21–3.52; P = .001) to have a clinical event within 1 year than patients with the mild symptom profile. Conclusions: Profiling patterns among physical and psychological symptoms identifies HF patient subgroups with significantly worse 1-year event-free survival independent of prognostication based on objective clinical HF data.

Background Familial dilated cardiomyopathy (FDC) is dilated cardiomyopathy of unknown cause occurring in 2 or more closely related family members. Methods and Results Members of 304 families suspected to have FDC were evaluated by family history (FH) and medical record review and were categorized as affected with idiopathic dilated cardiomyopathy (IDC), unaffected, unknown, or no data. Pedigrees were categorized with confirmed FDC, probable FDC, possible FDC or IDC based on strength of evidence. Of the 304 pedigrees, 125 were categorized as confirmed FDC, 48 were probable FDC, 72 were possible FDC, and 59 had sporadic, nonfamilial IDC. Numbers of living first- and second-degree family members, and median number of relatives available for FH was greatest with confirmed FDC, and diminished for probable and possible FDC, and IDC categories. LV dimensions increased and LV function worsened in index patients along the spectrum from confirmed FDC, probable FDC, possible FDC and IDC, and a greater proportion of IDC patients underwent heart transplant. However, the age of onset, duration of disease, the time to death or heart transplant, and most other findings were similar among the 4 categories. Conclusion Clinical characteristics of IDC and FDC are similar, precluding an FDC diagnosis from clinical features only.

Although considerable effort has been devoted to the follow-up of hospitalized patients, the effectiveness and process of heart failure outpatient management have not been well demonstrated.All new patients referred to the program from April 1997 to September 1998 were followed and managed by comprehensive strategies including preemptive hospitalization. Quality of life (QOL) and patients' self-care adherence behaviors were measured at baseline, 3 months, and 6 months. Clinical outcomes were compared for the 6 months before and 6 months after referral. A total of 108 patients were recruited. Patients' self-care knowledge score was improved over time (difference score = 0.9, P.01). The proportion of patients weighing themselves daily increased by 24% (P =.02). The proportion of patients with New York Heart Association (NYHA) class III to IV was 67.6% at baseline and 49.1% at 6 months (P =.01). Compared with 6 months before referral, the program intervention was accompanied by a 52% reduction in the risk of hospitalization for cardiovascular causes (56.1% v 27.2%, P.001) and a 72% reduction in emergency room visits (53.6% v 14.5%, P.01). The total hospital admissions for cardiovascular causes decreased by 59% from 94 to 39; the total emergency room visits decreased by 77% from 83 to 19. The patients' QOL was improved over time with a change score of 11.2 (P.001) at 3 months and 10.7 (P.001) at 6 months.Our study shows the effectiveness of this heart failure outpatient management program.

The Short-Form 12 (SF-12) and Living With Heart Failure Questionnaire (LHFQ) are commonly used to measure quality of life (QOL) in heart failure outcomes research. Their comparative responsiveness, however, has not been documented.A prospective cohort study was conducted among patients attending a university-based heart failure clinic between April 1997 and September 1998. All patients received comprehensive heart failure care management. QOL of patients was assessed by the SF-12 and LHFQ at baseline and 3 months. Of 87 patients completing follow-up, the mean change score was 10.1 for the LHFQ and 5.8 for the SF-12 (both Ps.001). The change scores of the instruments were correlated (r = 0.61; P.001). The SF-12 had a greater ability than the LHFQ to statistically detect change in physical health but was less sensitive to changes in mental health. The LHFQ performed better than the SF-12 in the ability to distinguish the differences in perceived global health transition.The LHFQ is more responsive than the SF-12 to changes in QOL. The SF-12 should not be used alone to measure the changes in QOL of patients with heart failure.

More than 20 genes have been reported to cause idiopathic and familial dilated cardiomyopathy (IDC/FDC), but the frequency of genetic causation remains poorly understood.Blood samples were collected and DNA prepared from 313 patients, 183 with FDC and 130 with IDC. Genomic DNA underwent bidirectional sequencing of six genes, and mutation carriers were followed up by evaluation of additional family members. We identified in 36 probands, 31 unique protein-altering variants (11.5% overall) that were not identified in 253 control subjects (506 chromosomes). These included 13 probands (4.2%) with 12 beta-myosin heavy chain (MYH7) mutations, nine probands (2.9%) with six different cardiac troponin T (TNNT2) mutations, eight probands (2.6%) carrying seven different cardiac sodium channel (SCN5A) mutations, three probands (1.0%) with three titin-cap or telethonin (TCAP) mutations, three probands (1.0%) with two LIM domain binding 3 (LDB3) mutations, and one proband (0.3%) with a muscle LIM protein (CSRP3) mutation. Four nucleotide changes did not segregate with phentoype and/or did not alter a conserved amino acid and were therefore considered unlikely to be disease-causing. Mutations in 11 probands were assessed as likely disease-causing, and in 21 probands were considered possibly disease-causing. These 32 probands included 14 of the 130 with IDC (10.8%) and 18 of 183 with FDC (9.8%)Mutations of these six genes each account for a small fraction of the genetic cause of FDC/IDC. The frequency of possible or likely disease-causing mutations in these genes is similar for IDC and FDC.

Background Lamin A/C mutations are a well-established cause of dilated cardiomyopathy (DCM), although their frequency has not been examined in a large cohort of patients. We sought to examine the frequency of mutations in LMNA , the gene encoding lamin A/C, in patients with idiopathic (IDC) or familial dilated cardiomyopathy (FDC). Methods Clinical cardiovascular data, family histories, and blood samples were collected from 324 unrelated IDC probands, of whom 187 had FDC. DNA samples were sequenced for nucleotide alterations in LMNA . Likely protein-altering mutations were followed up by evaluating additional family members, when possible. Results We identified 18 protein-altering LMNA variants in 19 probands or 5.9% of all cases (7.5% of FDC; 3.6% of IDC). Of the 18 alterations, 11 were missense (one present in 2 kindreds), 3 were nonsense, 3 were insertion/deletions, and 1 was a splice site alteration. Conduction system disease and DCM were common in carriers of LMNA variants. Unexpectedly, in 6 of the 19 kindreds with a protein-altering LMNA variant (32%), at least one affected family member was negative for the LMNA variant. Conclusions Lamin A/C variants were observed with a frequency of 5.9% in probands with DCM. The novel observation of FDC pedigrees in which not all affected individuals carry the putative disease-causing LMNA mutation suggests that some protein-altering LMNA variants are not causative or that some proportion of FDC may be because of multiple causative factors. These findings warrant increased caution in FDC research and molecular diagnostics.

Background: Most heart failure care is provided by primary care providers. Although heart failure disease management programs improve outcomes, most have been hospital-based with little integration with primary care providers. To address this issue, a heart failure clinic disease management model was adapted for use in the primary care setting. Methods and Results: A heart failure clinic staffed by 2 internists and their nurses was established in a large primary care practice. Medical care and pharmacotherapy were based on national guidelines. Nurses assisted with disease management. Primary outcomes included quality of life, functional class, and all-cause hospital and emergency room admissions 12 months before compared with 12 months after enrollment; a secondary endpoint was patient satisfaction. Of 165 patients sent to the heart failure clinic, 54 were referred back because of no active heart failure, and 18 had only 1 clinic visit. The 93 patients seen 2 or more times had a median age of 75 years. Anti–angiotensin II therapy was present in 84% and did not change over time, but doses of angiotensin-converting enzyme inhibitor increased by50%. β-blocker use increased from 40% at baseline to 63% at 6 months. Emergency room visits or all-cause hospitalizations were reduced (0.86 1.5 to 0.52 0.86, P .001) or trended to be reduced (0.56 0.98 to 0.35 0.62, P.07), respectively, by approximately 40%. Quality of life improved significantly at all time points, and patients were highly satisfied. Conclusion: This heart failure disease management model, designed for patients and providers in an primary care setting, was feasible and successful.

Background: This study describes the process and outcomes of continuous outpatient support with inotropes (COSI) in patients with Stage D heart failure (HF). Although Stage D HF has recently been defined as end-stage disease requiring special interventions for survival such as COSI or ventricular assist devices, concern has been raised regarding the safety, efficacy, mortality outcomes, and ethics of COSI. Methods and Results: Inotrope dependence was defined as worsening of the patient's clinical status with attempted inotrope withdrawal such that the patient was deemed unlikely to survive to permit hospital discharge. A care process for COSI was designed; baseline and outcome variables were evaluated. COSI was administered to 36 inotrope-dependent patients (age 55.4 ± 9.5 years, 24 males). Baseline characteristics (mean ± SD) were consistent with Stage D HF: left ventricular ejection fraction 19.9 ± 8.5, left ventricular end-diastolic dimension (LVEDD) 70 ± 10 mm, systolic blood pressure 97.4 ± 13.4 mm Hg, serum creatinine 1.5 ± 0.6, serum sodium 131.7 ± 5.3; 69 HF hospitalizations (mean 1.9 ± 1.8) 6 months before COSI initiation. Symptomatic hypotension, increasing dyspnea, renal dysfunction, and hypoperfusion most commonly prevented inotrope withdrawal. Despite Stage D HF, patients were discharged with COSI ambulatory, oriented, and pain free. Rehospitalizations were 46; 6 subjects accounted for 24 hospitalizations; 23 had 0 or 1 rehospitalization. Median survival was 3.4 months (range 0.2-26.3 months); and 3-, 6-, and 12-month Kaplan Meier survival was 51%, 26%, and 6%, respectively. The majority of patients died at home and chose to not undergo resuscitation attempts. Conclusion: COSI may be an acceptable treatment option for Stage D HF.

Denial in the terminally-ill is often seen as a problem that health care professionals, particularly social workers need to fix. Rather than seeing denial as a part of acceptance, it is seen adjust the opposite. Denial surfaces to establish control in an uncontrollable situation such as terminal illness. The social worker’s challenge is to help the patient and family see their own strengths and make their own decisions. As the patient and family regain some control over their lives, denial is often replaced with other, more functional coping mechanisms.

Background Patient education has been shown to be a key component in comprehensive heart failure management. Few data, however, are available regarding patients' knowledge of and adherence to self-care recommendations for the disease. Objectives To assess the knowledge level of and adherence to self-care among patients with heart failure and to determine associated factors. Methods We conducted a needs-assessment survey among new patients visiting a heart failure clinic from April 1997 through June 1998. Multiple linear regression analysis was used to assess the factors predictive of patients' knowledge level and adherence behaviors. Results Of the 113 patients surveyed, 77% were referred by cardiologists and 60% had New York Heart Association class III or IV status. Two thirds of the patients reported receiving information or advice about self-care from health care providers. When asked how much they knew about congestive heart failure, however, 37% said "a little or nothing," 49% said "some," and only 14% said "a lot." Approximately 40% of the patients did not recognize the importance of weighing themselves daily and 27% weighed themselves twice a month or less often. Although 80% of the patients knew they should limit their salt intake, only one third always avoided salty foods. Additionally, 25% of the patients did not appreciate the risk of alcohol use and 36% believed they should drink a lot of fluids. The multiple linear regression analysis indicated that a higher knowledge score was associated with being married, prior hospitalization, and having received both advice and information about self-care from physicians or nurses. A poor adherence behavior score was associated with being unmarried, lower perceived self-efficacy, a lack of knowledge about self-care, and no prior hospitalization. Conclusions We observed a gap between patients receiving and absorbing or retaining information on self-care for congestive heart failure supplied by health care providers. Self-care education needs to be directed to outpatients in addition to inpatients.

Two common disorders of the elderly are heart failure and Alzheimer disease (AD). Heart failure usually results from dilated cardiomyopathy (DCM). DCM of unknown cause in families has recently been shown to result from genetic disease, highlighting newly discovered disease mechanisms. AD is the most frequent neurodegenerative disease of older Americans. Familial AD is caused most commonly by presenilin 1 (PSEN1) or presenilin 2 (PSEN2) mutations, a discovery that has greatly advanced the field. The presenilins are also expressed in the heart and are critical to cardiac development. We hypothesized that mutations in presenilins may also be associated with DCM and that their discovery could provide new insight into the pathogenesis of DCM and heart failure. A total of 315 index patients with DCM were evaluated for sequence variation in PSEN1 and PSEN2. Families positive for mutations underwent additional clinical, genetic, and functional studies. A novel PSEN1 missense mutation (Asp333Gly) was identified in one family, and a single PSEN2 missense mutation (Ser130Leu) was found in two other families. Both mutations segregated with DCM and heart failure. The PSEN1 mutation was associated with complete penetrance and progressive disease that resulted in the necessity of cardiac transplantation or in death. The PSEN2 mutation showed partial penetrance, milder disease, and a more favorable prognosis. Calcium signaling was altered in cultured skin fibroblasts from PSEN1 and PSEN2 mutation carriers. These data indicate that PSEN1 and PSEN2 mutations are associated with DCM and heart failure and implicate novel mechanisms of myocardial disease.