Genetic Testing in Hypertrophic Cardiomyopathy.

Genetic testing is an important tool in the diagnosis and management of patients and families with hypertrophic cardiomyopathy (HCM). Modern testing can identify causative variants in 30 to >60% of patients, with probability of a positive test varying with baseline characteristics such as known family history of HCM. Patients diagnosed with HCM should be offered genetic counseling and genetic testing as appropriate. Standard multigene panels evaluate sarcomeric genes known to cause HCM as well as genetic conditions that can mimic HCM but require different management. Positive genetic testing (finding a pathogenic or likely pathogenic variant) helps to clarify diagnosis and assists in family screening. If there is high confidence that an identified variant is the cause of HCM, at-risk family members can pursue predictive testing to determine if they are truly at risk or if they can be dismissed from serial screening based on whether they inherited the family's causative variant. Interpreting test results can be complex, and providers should make use of multidisciplinary teams as well as evidence-based resources to obtain the best possible understanding of pathogenicity.

Exercise right ventricular ejection fraction predicts right ventricular contractile reserve.

BACKGROUND: Right ventricular (RV) contractile reserve shows promise as an indicator of occult RV dysfunction in pulmonary vascular disease. We investigated which measure of RV contractile reserve during exercise best predicts occult RV dysfunction and clinical outcomes. METHODS: We prospectively studied RV contractile reserve in 35 human subjects referred for right heart catheterization for known or suspected pulmonary hypertension. All underwent cardiac magnetic resonance imaging, echocardiography, and supine invasive cardiopulmonary exercise testing with concomitant RV pressure-volume catheterization. Event-free survival was prospectively adjudicated from time of right heart catheterization for a 4-year follow-up period. RESULTS: RV contractile reserve during exercise, as measured by a positive change in end-systolic elastance (Ees) during exertion, was associated with elevation in pulmonary pressures but preservation of RV volumes. Lack of RV reserve, on the other hand, was tightly coupled with acute RV dilation during exertion (R2 = 0.76, p< 0.001). RV Ees and dilation changes each predicted resting RV-PA dysfunction. RV ejection fraction during exercise, which captured exertional changes in both RV Ees and RV dilation, proved to be a robust surrogate for RV contractile reserve. Reduced exercise RV ejection fraction best predicted occult RV dysfunction among a variety of resting and exercise RV measures, and was also associated with clinical worsening. CONCLUSIONS: RV ejection fraction during exercise, as an index of RV contractile reserve, allows for excellent identification of occult RV dysfunction, more so than resting measures of RV function, and may predict clinical outcomes as well.

Teaching-Learning Experience Regarding Skill in Using Inhalers: Medical Students Teaching Nursing Students.

BACKGROUND: Teaching-learning experience involving more than one health care discipline is a topic of great interest in the health sciences. Few such experiences are known in which medical students taught nursing students a clinical skill. METHOD: The authors evaluated the effect of fourth-year medical students teaching the correct use of a metered-dose inhaler (MDI) to bachelor of science nursing (BSN) students. An fourth-year medical student investigator taught BSN students the correct use of an MDI in individual, private educational sessions, approximately 10 minutes in length, in a large health sciences center. BSN students were scored in use of MDI preeducation and posteducation. Instruction included both discussion and demonstration by the M4S. RESULTS: Among 20 BSN students, posteducation scores were markedly improved for total steps (p < .0001), and six of nine individual steps for MDI use. CONCLUSION: Brief teaching-learning sessions are effective in teaching nursing students the correct use of MDI. [J Nurs Educ. 2017;56(2):120-122.].