Repeat Cardiac Transplant Indicated by Severe Cardiac Allograft Vasculopathy in a Patient With Danon Disease.

Danon disease is a rare, X-linked dominant, lysosomal storage disorder, presenting with cardiomyopathy mostly in adolescent men. Male patients face a high mortality rate and rarely live to the age of 25 years unless they receive a heart transplant. Because they generally undergo heart transplantation at a young age, many patients ultimately face both short- and long-term complications. We present a 32-year-old man diagnosed with Danon disease; a nonsense mutation in the LAMP-2 gene. Progressive heart failure symptoms resulted in initial heart transplant at age 27 years. He subsequently developed severe cardiac allograft vasculopathy that led to graft failure requiring a redo orthotopic heart transplant. This is one of only two reported Danon disease cases described to date surviving repeat orthotopic heart transplants. We present this case to highlight the importance of heart transplantation in the management of Danon disease, to emphasize the risk of cardiac allograft vasculopathy post-transplant, and to discuss management strategies.

Alirocumab and Lipid Levels, Inflammatory Biomarkers, Metabolomics, and Safety in Patients Receiving Maintenance Dialysis: The ALIrocumab in DIALysis Study (A Phase 3 Trial to Evaluate the Efficacy and Safety of Biweekly Alirocumab in Patients on a Stable Dialysis Regimen).

Rationale & Objective: The proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor alirocumab is used in the general population to treat dyslipidemia, but little is known about the effects of alirocumab on lipid levels, biomarkers, the metabolome, and safety in individuals receiving maintenance dialysis. Study Design: Patients receiving maintenance dialysis for at least 3 months and with a low-density lipoprotein cholesterol level of >70 mg/dL were treated with alirocumab for 12 weeks. Laboratory measurements, drug levels, and safety assessments were obtained at baseline and every 4 weeks during the trial. Setting & Participants: In an outpatient setting, 14 patients completed the trial. Intervention: The patients were treated with alirocumab at a full dose of 150 mg every 2 weeks for 12 weeks. The patients were asked to report any adverse events every 2 weeks. Outcomes: There were no unexpected adverse events or laboratory abnormalities in this population receiving dialysis. The drug levels were the same as those for a population not receiving dialysis. Results: Alirocumab resulted in a 45% reduction in the low-density lipoprotein cholesterol level (P = 0.005) and a 35% reduction in the apolipoprotein B level (P = 0.06). There were no significant decreases in the levels of triglycerides, C-reactive protein, fibrinogen, or other inflammatory biomarkers tested. There were significant decreases in the levels of 7 ceramide, 5 sphingomyelin, and 5 cholesterol ester species. Limitations: This study was performed in only 14 patients who were administered alirocumab for only 12 weeks. This study did not address alirocumab treatment in patients with chronic kidney disease not receiving maintenance dialysis. Conclusions: Individuals receiving maintenance dialysis had a similar response to the PCSK9 inhibitor alirocumab as patients not receiving dialysis. The levels of inflammatory biomarkers were not clearly decreased by alirocumab, but the levels of ceramides, sphingomyelins, and cholesterol esters were significantly reduced. Trial Registration: Clinical Trials.gov as NCT03480568.

Patient "Activation" of Patients Referred for Advanced Heart Failure Therapy.

Advanced heart failure (HF) is a devastating chronic illness requiring complex treatment regimens and patient engagement. Having the information, motivation, and skills to live with a medical condition are conceptualized by the term, "activation." Patients referred for advanced HF therapy and their unpaid family caregiver were invited to participate in this study by completing the 10-item patient activation measure (PAM) questionnaire. Anxiety and depression were assessed via the hospital anxiety and depression scale. We compared activation, anxiety, and depression between those selected versus not selected for advanced HF therapy (left ventricular assist device or heart transplantation). We analyzed those who subsequently underwent advanced HF therapy in regards to activation and 1-year survival. There were 133 (68%) patients selected for therapy. Neither depression nor anxiety differed by selection status, but PAM levels did (p = 0.02). Those not selected for therapy were approximately 4 times more likely to have lower activation than those who were selected (8% vs 2%). Of the 133 selected patients, 110 (84%) subsequently underwent advanced HF therapy and 15 (14%) of those died within 1 year. Survival was independent of baseline anxiety (p = 0.92) and depression (p = 0.70), as well as patient and caregiver PAM (p = 0.50 and 0.77, respectively). In conclusion, patients with higher activation were more likely to be selected for advanced HF therapy.

Patient activation with respect to advanced heart failure therapy in patients over age 65 years.

BACKGROUND: Clinical and ethical issues persist in determining candidacy for advanced heart failure (HF) therapies in elderly patients. Selection takes many factors into account, including "activation" (engagement and ability to self-manage). OBJECTIVE: To investigate effects of age, activation, and depression/anxiety on selection and 6-month survival of participants considered for therapy. METHODS: Consecutive people referred for advanced HF therapy completed the Patient Activation Measure and Hospital Anxiety and Depression Scale. We analyzed data from participants by age (≥65 vs. <65 years), stratified by approval for therapy. RESULTS: Among 168 referred, 109 were approved, with no difference in activation between age groups (88% highly activated). Similarly, activation was not associated with age among those not approved. Activation was related to anxiety in older, approved participants, but not to depression. CONCLUSIONS: Concerns regarding reduced self-management in the elderly may not be valid. Age alone should not disqualify a candidate for advanced HF therapy.

Probability of Accurate Heart Failure Diagnosis and the Implications for Hospital Readmissions.

Heart failure (HF) is a complex syndrome with inherent diagnostic challenges. We studied the scope of possibly inaccurately documented HF in a large health care system among patients assigned a primary diagnosis of HF at discharge. Through a retrospective record review and a classification schema developed from published guidelines, we assessed the probability of the documented HF diagnosis being accurate and determined factors associated with HF-related and non-HF-related hospital readmissions. An arbitration committee of 3 experts reviewed a subset of records to corroborate the results. We assigned a low probability of accurate diagnosis to 133 (19%) of the 712 patients. A subset of patients were also reviewed by an expert panel, which concluded that 13% to 35% of patients probably did not have HF (inter-rater agreement, kappa = 0.35). Low-probability HF was predictive of being readmitted more frequently for non-HF causes (p = 0.018), as well as documented arrhythmias (p = 0.023), and age >60 years (p = 0.006). Documented sleep apnea (p = 0.035), percutaneous coronary intervention (p = 0.006), non-white race (p = 0.047), and B-type natriuretic peptide >400 pg/ml (p = 0.007) were determined to be predictive of HF readmissions in this cohort. In conclusion, approximately 1 in 5 patients documented to have HF were found to have a low probability of actually having it. Moreover, the determination of low-probability HF was twice as likely to result in readmission for non-HF causes and, thus, should be considered a determinant for all-cause readmissions in this population.

The gender of authors in the Baylor Proceedings: a reflection of both current staff composition and lesser number of publications by female physicians.

Gender parity has been achieved in entrance to medical school, but women still constitute only 32% of the physicians licensed to practice in the state of Texas. Similarly, female physicians lag behind in scholarly publications. This gender imbalance appears to be improving, although parity has yet to be achieved in many journals. We could reliably obtain the gender of both the physician staff of the North Division of Baylor Scott & White Health and of the authors in Baylor University Medical Center Proceedings. Of the Baylor authors, 19% were female physicians, while 65% were male physicians (others were nonphysicians). The gender makeup of the total staff was 27% female and 73% male physicians. Thus, female authorship is only 70% as great as the number of female staff physicians. We suggest ways to encourage more women to submit publications.