Guidelines on clinical presentation and management of nondystrophic myotonias

The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after voluntary contraction, which leads to symptoms of muscle stiffness, pain, fatigue, and weakness. Diagnosis is based on history and examination findings, the presence of electrical myotonia on electromyography, and genetic confirmation. In the absence of genetic confirmation, the diagnosis is supported by detailed electrophysiological testing, exclusion of other related disorders, and analysis of a variant of uncertain significance if present. Symptomatic treatment with a sodium channel blocker, such as mexiletine, is usually the first step in management, as well as educating patients about potential anesthetic complications.     

Echocardiographic diagnosis of permanent pacemaker lead malposition in the left ventricle: A case study

Inadvertent endocardial lead malposition is recognized as a rare incident which is usually underreported and if recognized during implantation can be easily corrected. This phenomenon is caused by the ventricular lead unintentionally crossing a pre-existing patent foremen ovale, septal defects (atrial or ventricular) or directly from the aorta via an accidental subclavian puncture resulting in the lead implanting into the left ventricle. While this is a rare occurrence we report, the incidental finding of pacemaker lead malposition during a routine follow-up transthoracic echocardiogram and the benefits of three-dimensional transesophageal echocardiography in this patient prior to lead extraction.     

Cervicofacial actinomycosis

Cervicofacial actinomycosis is an uncommon, chronic, suppurative, and granulomatous bacterial infection. It is often of dental origin and tends to mimic other dental infections, granulomatous disorders, and cancers. The initial diagnostic workup, predicated upon imaging and tissue biopsies, is frequently nonspecific. A definitive diagnosis is usually rendered only after surgical excision and histologic examination of the cervicofacial mass. We propose a classification of three stages: localized infection without sinus involvement, localized infection with sinus involvement, and disseminated infection, to facilitate recognition, diagnosis, and early aggressive treatment. Untreated infection may be life-threatening. Therapy may require long-term antibiotics; however, many cases may also necessitate complete surgical excision.     

3D transesophageal echocardiography in TAVR

Recently, there has been an increasingly minimalistic approach to transcatheter aortic valve replacement (TAVR), with most procedures now performed under conscious sedation without real time transesophageal echocardiography (TEE) guidance. Proponents of echo should not feel discouraged by this; it is the initial insights that were gained with procedural TEE during the early years of TAVR that have allowed the procedure's gradual maturation and sophistication. Experienced centers that have promoted extensive TAVR TEE programs continue to maximize the benefits of echocardiography in both procedural planning and execution. Critical to this is the understanding of 3D TEE, allowing the annulus to be sized accurately, relevant neighboring anatomy defined, and complications flagged. This review will outline the current application of 3D TEE in TAVR and discuss challenges and opportunities for 3D echocardiography in this field.     

Appropriateness,diagnostic value,and outcomes of repeat testing following index echocardiography

Aims

Emergency admission to hospital is associated with an economic burden and mortality. Echocardiography is often the first‐line cardiovascular imaging investigation. Repeat testing is common; however, there are sparse data on the prevalence, appropriateness, or outcome of repeat testing.

Methods

We performed an electronic database search for patients with emergency admissions to our institution in February 2015. An electronic patient record review of inpatient echocardiograms was undertaken. Indications for echocardiography were classified as appropriate, may be appropriate, or rarely appropriate. One‐year follow‐up for repeat testing and mortality was investigated.

Results

A total of 409 of 2306 (17.7%) unplanned/emergency admissions underwent inpatient echocardiography. Abnormalities were identified in 165/409 (40.3%) of these patients; 154 of 409 (37.7%) had a repeat echocardiogram within the next year. Rarely appropriate indications for echocardiography occurred in 51 (33%) of repeat vs 53 (16%) of index echocardiograms, P < .0001. Repeat testing was associated with a change in findings in 17/154 (11%) patients overall. All of whom had an abnormal index echocardiogram and had an appropriate indication. There was no difference in mean survival time between patients who underwent repeat and those who only underwent a single index echocardiogram (310 days vs 327 days), P = .34.

Conclusion

Inpatient echocardiography in emergency hospital admissions identifies clinically important pathology. Repeated testing is common within 1 year of hospital admission. New diagnostic findings occurred in 11% of patients and only in patients with appropriate studies and an abnormal index echocardiogram. Identification of methods to reduce repeat testing and implement appropriateness criteria is warranted.