Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.

BACKGROUND: The LMNA gene, one of 6 autosomal disease genes implicated in familial dilated cardiomyopathy, encodes lamins A and C, alternatively spliced nuclear envelope proteins. Mutations in lamin A/C cause 4 diseases: Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy type 1B, Dunnigan-type familial partial lipodystrophy, and dilated cardiomyopathy. METHODS AND RESULTS: Two 4-generation white families with autosomal dominant familial dilated cardiomyopathy and conduction system disease were found to have novel mutations in the rod segment of lamin A/C. In family A a missense mutation (nucleotide G607A, amino acid E203K) was identified in 14 adult subjects; disease was manifest as progressive conduction disease in the fourth and fifth decades. Death was caused by heart failure. In family B a nonsense mutation (nucleotide C673T, amino acid R225X) was identified in 10 adult subjects; disease was also manifest as progressive conduction disease but with earlier onset (third and fourth decades), ventricular dysrhythmias, left ventricular enlargement, and systolic dysfunction. Death was caused by heart failure and sudden cardiac death. Skeletal muscle disease was not observed in either family. CONCLUSIONS: Novel rod segment mutations in lamin A/C cause variable conduction system disease and dilated cardiomyopathy without skeletal myopathy.

Prospective evaluation of an outpatient heart failure management program.

BACKGROUND: 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. METHODS AND RESULTS: 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. CONCLUSION: Our study shows the effectiveness of this heart failure outpatient management program.

Comparative responsiveness of Short-Form 12 and Minnesota Living With Heart Failure Questionnaire in patients with heart failure.

BACKGROUND: 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. METHODS AND RESULTS: 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. CONCLUSION: 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.

Familial dilated cardiomyopathy: echocardiographic diagnostic criteria for classification of family members as affected.

BACKGROUND: Echocardiographic criteria for left ventricular enlargement (LVE) used to classify subjects as affected in families with familial dilated cardiomyopathy (FDC) have been inconsistent. A recent report from a large Framingham echocardiographic study provides an opportunity to improve the assignment of LVE and FDC in kindreds, principally with a dilated phenotype. The objective of this study is to evaluate an alternative diagnostic criteria for FDC based only on LVE with no measure of fractional shortening (FS). METHODS AND RESULTS: We compared our proposed criteria for LVE and FDC with previous approaches by applying them to 166 adults derived from three large FDC pedigrees. Our proposed FDC diagnostic criteria are a sex- and height-specific method based only on LVE, without regard for FS, set as a 97.5% upper limit for left ventricular end-diastolic dimension (LVEDD) from the Framingham study. Other methods used to assign LVE were (1) a 95% upper limit for LVEDD by the Framingham study; (2) the method of Henry et al. (1980) based on age and body surface area (BSA); and (3) the National Heart, Lung, and Blood Institute (NHLBI) method with a cut point of LVEDD greater than 2.7 cm/BSA. Three other commonly used diagnostic criteria for FDC were based on various LVE standards combined with an FS of 27% to 30%. For LVE, the Framingham-97.5% was the most stringent (21 of 134 subjects identified; 15.7%), the NHLBI standard the least stringent (57 of 161 subjects identified; 35.4%), and the Henry-112% method intermediate (44 of 161 subjects identified; 27.3%). More women were identified with the Framingham method (57.1%) versus the Henry-112% (40.9%). The Henry-112% and NHLBI methods identified 11.4% and 7.0% of subjects with body mass indices (BMIs) of 35 or greater, respectively. For FDC, our proposed FDC diagnostic criteria identified similar numbers of subjects (21 subjects) as the three other criteria (range, 22 to 27 subjects), but inconsistency was noted (54.2% to 66.7%), with kappa values from 0.49 to 0.55 resulting from different sensitivities to sex, LVE, FS, and BMI. CONCLUSION: Our proposed FDC diagnostic criteria are stringent to assign FDC family members as affected compared with other commonly used criteria. The use of LVEDD alone may be preferable for FDC family screening, although further validation of this approach with phenotypic and genotypic data from other large FDC pedigrees is needed.

Clinical profiles of four large pedigrees with familial dilated cardiomyopathy: preliminary recommendations for clinical practice.

OBJECTIVES: This study aimed to characterize the clinical profile of familial dilated cardiomyopathy (FDC) in the families of four index patients initially diagnosed with idiopathic dilated cardiomyopathy (IDC) and to provide clinical practice recommendations for physicians dealing with these diseases. BACKGROUND: Recent evidence indicates that approximately one-half of patients diagnosed with IDC will have FDC, a genetically transmissible disease, but the clinical profile of families screened for FDC in the U.S. has not been well documented. Additionally, recent ethical guidelines suggest increased responsibilities in caring for patients with newly found genetic cardiovascular disease. METHODS: After identification of four families with FDC, we undertook clinical screening including medical history, physical examination, electrocardiogram and echocardiogram. Diagnostic criteria for FDC-affected status of asymptomatic family members was based on left ventricular enlargement (LVE). Subjects with confounding cardiovascular diagnoses or body mass indices >35 were excluded. RESULTS: We identified 798 living members from the four FDC pedigrees, and screened 216 adults and 129 children (age <16 years). Twenty percent of family members were found to be affected with FDC; 82.8% of those affected were asymptomatic. All four pedigrees demonstrated autosomal dominant patterns of inheritance. The average left ventricular end-diastolic dimension was 61.4 mm for affected and 48.4 mm for unaffected subjects, with an average age of 38.3 years (+/- 14.6 years) for affected and 32.1 years for unaffected subjects. The age of onset for FDC varied considerably between and within families. Presenting symptoms when present were decompensated heart failure or sudden death. CONCLUSIONS: We propose that with a new diagnosis of IDC, a thorough family history for FDC should be obtained, followed by echocardiographic-based screening of first-degree relatives for LVE, assuming their voluntary participation. If a diagnosis of FDC is established, we suggest further screening of first-degree relatives, and all subjects with FDC undergo medical treatment following established guidelines. Counseling of family members should emphasize the heritable nature of the disease, the age-dependent penetrance and the unpredictable clinical course.

Factors influencing knowledge of and adherence to self-care among patients with heart failure.

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.

Lyme disease: an elusive diagnosis.

Lyme disease presents health care practitioners with a complex set of challenges. The history, physical assessment, and clinical evaluation must all be meticulously performed, as Lyme disease can prove to be an exceptionally elusive entity. This article details the pathogenesis, clinical manifestations, nursing history, and health care implications of Lyme disease. Education is emphasized as the key to both the detection and prevention of this rapidly increasing syndrome.

Proper care for the dying: a critical public issue.

The ability of the medical profession to sustain life, or more appropriately, to prolong dying, in patients with terminal illness, creates a most complex and controversial situation for all involved: the patient, if mentally alert; the patient's family; and the medical care team including physicians, nurses and attendants. This situation is especially complex in large acute care hospitals where medical and nursing students, residents and house officers receive advanced medical training. A major problem, prolonging the dying of the terminally ill, with its medical, legal, ethical and economic complexities now confronts American society. The problem is particularly acute in teaching hospitals, in which one finds a disproportionate number of terminally ill patients. The ability to work at these questions as a community rather than as adversaries will determine much about the ability of the health care system to respect the dignity and autonomy of those who seek aid and comfort when faced with serious illness and impending death. Better communication between the physicians, health care providers, the lawyers and ethicists must be developed in order to solve these problems. Over the next ten years society and our elected representatives will be making very demanding decisions about the use of the health dollar. One possible way to prevent increasing costs is to reach significant agreement on the proper care of the dying. Proper care for the dying is being considered, discussed, and evaluated by very thoughtful people. It is not governments which should decide who is to live or who is to die. There is the serious problem of the 'slippery slope' to euthanasia by omission if cost containment becomes the major force in formulating policy on the proper care of the dying.

The role of the nursing school in the academic health center: report of a study.

This paper highlights for the nursing education community selected data from a recently completed study of the organization and governance of academic health centers, conducted under the auspices of the Association of Academic Health Centers and funded by the W.K. Kellogg Foundation. It is hoped that the limited information presented here will stimulate interest in the larger study. Presented and discussed are data derived from three different questionnaires used in the study. Top administrators in academic health centers were surveyed in order to produce information on the structural components and hierarchical relationships in contemporary academic health centers, the processes by which decisions are made and conflicts are resolved, and the conditions which administrators envision for their institutions in the future. Deans of nursing schools were part of the survey group, and their responses are examined along with those of deans of other health professional schools.

The role of schools of allied health in the academic health center: report of a study.

This paper highlights selected data from a recently completed study of the organization and governance of academic health centers. The study was conducted under the auspices of the Association of Academic Health Centers and was funded by the W.K. Kellogg Foundation. It is hoped that the limited information presented here will stimulate interest in the larger study. Data derived from three different questionnaires used in the study are presented and discussed. Top administrators in academic health centers were surveyed to produce information on the structural components and hierarchical relationships in contemporary academic health centers, the processes by which decisions are made and conflicts are resolved, and the conditions that administrators envision for their institutions in the future. Deans of schools of allied health were part of the survey group, and their responses are examined along with those of deans of other health professional schools.

The dental school's role in academic health centers: report of a study.

This paper highlights for the dental education community selected data from a recently completed study of the organization and governance of academic health centers, conducted under the auspices of the Association of Academic health Centers and funded by the W. K. Kellogg Foundation. It is hoped that the limited information presented here will stimulate interest in the larger study. Data derived from three questionnaires used in the study are presented and discussed. Top administrators in academic health centers were surveyed to assemble information on the structural components and hierarchical relationships in contemporary academic health centers, the processes by which decisions are made, the way in which conflicts are resolved, and the conditions that administrators envision for their institutions in the future. Dental school deans were part of the survey group, and their responses are examined along with those of deans of other health professional schools.

Policy-making and governance in academic health centers.

Treating academic health centers (AHCs) as unique organizations that merit serious investigation, the authors outline key changes which have shaped today's AHCs, discuss various modes of AHC organization and governance, and analyze certain factors which make AHC policy-making so complex. In addition, they assess the relevance of certain policy-making models, concluding that no one model completely describes AHC governance. They suggest that the contingency theory of organizations offers a useful perspective on AHCs and point to matrix management as one contemporary method being tried in an effort to cope with the problems of AHC governance. Finally, the authors offer a set of decision-making continua as an alternative to governance models for analyzing policy-making in AHCs.