RESUMO
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.
Assuntos
Displasia Ectodérmica , Síndrome de Langer-Giedion , Deformidades Congênitas dos Membros , Dermatoses do Couro Cabeludo , Displasia Ectodérmica/complicações , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/genética , Humanos , Recém-Nascido , Síndrome de Langer-Giedion/complicações , Síndrome de Langer-Giedion/diagnóstico , Síndrome de Langer-Giedion/genética , Deformidades Congênitas dos Membros/diagnóstico , Couro Cabeludo , Dermatoses do Couro Cabeludo/diagnósticoRESUMO
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.
