Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate.

Aplasia cutis congenita (ACC) was diagnosed in a newborn with dysmorphic facial features, oligodactyly of the bilateral feet, and hip instability. The neonate's clinical abnormalities in addition to genetic testing confirmed a diagnosis of trichorhinophalangeal syndrome (TRPS) type II. The possibility of concurrent Adams-Oliver syndrome (AOS) is raised.

Ampere Hour as a Predictor of Cardiac Resynchronization Defibrillator Pulse Generator Battery Longevity: A Multicenter Study.

BACKGROUND: Cardiac resynchronization defibrillator (CRT-D) devices improve survival for New York Heart Association classes II-IV systolic heart failure patients with QRS > 120 ms and left ventricular ejection fraction < 35%. A limitation of 100% CRT pacing is excess battery depletion and pulse generator (PG) replacement compared to VVI or dual-chamber systems. Ampere hour (Ah) measures PG battery capacity and may predict CRT-D device longevity. METHODS: We performed a multicenter retrospective study of all CRT-D devices implanted at our centers from August 1, 2008 to December 31, 2010. Analysis was performed for survival to elective replacement indicator (ERI) between 1.0 Ah, 1.4 Ah, and 2.0 Ah devices, per manufacturers' specifications. RESULTS: One thousand three hundred and two patients were studied through December 31, 2014. Patients were followed for an average of 3.0 ± 1.3 years (794 1.0 Ah, 322 2.0 Ah, and 186 1.4 Ah devices under study). CRT-D generator ERI occurred in 13.5% of 1.0 Ah systems (107 out of 794), versus 3.8% in 1.4 Ah (seven out of 186), and 0.3% in 2.0 Ah devices (one out of 322) over mean follow-up of 3.0 years. Odds ratio (OR) for reaching ERI with 1.0 Ah device versus 1.4 Ah or 2.0 Ah was 9.73, P < 0.0001. Univariate predictors for ERI included 1.0 Ah device and LV pacing output >3V @ 1 ms (OR: 3.74, P < 0.001). LV impedance >1,000 ohms predicted improved device survival (OR: 0.38, P = 0.0025). CONCLUSIONS: CRT-D battery capacity measured by Ah is a strong predictor of survival to ERI for modern systems. Further study on cost and morbidity associated with early PG change in 1.0 Ah systems is warranted.

Relation of Body Mass Index to Symptom Burden in Patients withAtrial Fibrillation.

Atrial fibrillation (AF) is the most common sustained arrhythmia and is associated with significant morbidity and increased mortality. As body mass index (BMI) is increasingly recognized as an important risk factor for the development of AF, we tested the hypothesis that BMI modulates symptomatic AF burden. Cross-sectional data collected from 1,382 patients in the Vanderbilt AF Registry were analyzed. AF severity was assessed using the Toronto atrial fibrillation severity scale (AFSS). BMI was categorized according to World Health Organization guidelines and patients were grouped according to their present AF treatment regimen: no treatment (n = 185), rate control therapy with atrioventricular nodal blocking agents (n = 351), rhythm control with antiarrhythmic drugs (n = 636), and previous AF ablation (n = 210). Patients with BMI >35 kg/m2 had higher AFSS scores than those with BMI <30 kg/m2 in the rate control (43.57 vs 38.21: p = 0.0057), rhythm control (46.61 vs 41.08: p = 1.6 × 10-4), and ablation (44.01 vs 39.02: p = 0.047) groups. Inunivariate linear models, BMI was associated with an increase in the AFSS score in the rate control (0.27, 95% confidence interval [CI] 0.05 to 0.5, p = 0.02), rhythm control (0.38, 95% CI 0.21 to 0.56, p = 2.49 × 10-5), and ablation (0.38, 95% CI 0.03 to 0.73, p = 0.03) groups. The association remained significant in the rhythm control groups after adjusting for age, gender, race, and comorbidities (0.29, 95% CI 0.11 to 0.49, p = 0.002). In conclusion, increasing BMI was directly associated with patient reported measures of AF symptom severity, burden, and quality of life. This was most significant in patients treated with rhythm-control strategies.