Prevalence of a Brugada Pattern Electrocardiogram in an Urban Population in the United States

Objective: To determine the prevalence of a Brugada-type pattern on routine electrocardiogram (ECG) in an urban population served by a tertiary medical center in the United States.
Methods: The investigators reviewed the ECG database at the Montefiore Medical Center, a tertiary teaching center in the Bronx, New York, over a 10-year period. During this time, 653,006 ECG records in 162,590 patients were identified. The database was queried by applying standard diagnostic criteria in an attempt to identify records with apparent conduction delay and ST abnormality in leads V1–V3. Additional diagnostic criteria were then applied to identify records in an attempt to mimic Brugada-like changes. A cardiac electrophysiologist reviewed records meeting these criteria to confirm the presence of a Brugada-type pattern.
Results: In total, 16,067 patients (9.8%) were identified as having ECGs with right bundle branch block, incomplete right bundle branch block, or RSR' in leads V1 and V2. After applying additional diagnostic criteria evaluating ST segment shift, 456 patients were identified as having a pattern potentially consistent with a Brugada-type ECG. The presence of a Brugada-type pattern was confirmed by physician overread in 20 patients (0.012%).
Conclusion: The Brugada-type ECG pattern is infrequently seen in a large ethnically diverse urban US population. Further evaluation should be considered when this pattern is seen on routine ECG.     

Nail‐Patella Syndrome with an Emphasis on the Risk of Renal and Ocular Findings

Abstract: We describe a 6‐year‐old girl presenting with nail dysplasia affecting all nails and hands for 2 years. Changes were seen on the ulnar side of the nails. She was assessed for limitation of elbow movements at 3 weeks of age and underwent physiotherapy for thickened biceps tendon. She subsequently developed laxity of knees and ankles, and x‐ray revealed absent patellae at 32 weeks. She had behavioral abnormalities and sleep disturbances. X‐ray of the pelvis revealed iliac horns, and urinalysis showed 3+ proteinuria. She had mixed hyperlipidemia. Her chromosomal analysis was normal but showed a mutation in the LMX1B gene. She was diagnosed to have Nail‐patella syndrome or Hereditary osteo‐onychodysplasia (HOOD Syndrome). Her renal imaging was normal, as were her ocular pressures. She is under regular surveillance by a multi‐disciplinary team of genetic counselors, orthopedists, rheumatologists and ophthalmologists. She is currently prescribed enalapril, melatonin and simvastatin.     

X‐linked hereditary motor sensory neuropathy (type 1) presenting with a stroke‐like episode

X‐linked hereditary motor sensory neuropathy type 1 (CMTX 1) is caused by mutation in the GJB1 gene that codes for the connexin 32 protein. Central nervous system involvement with or without white matter changes on magnetic resonance imaging (MRI) has rarely been reported in this condition. We report the case of a 7‐year‐old, previously well male who presented with a stroke‐like episode that manifested as left hemiparesis and dysphasia. An initial brain MRI showed white matter signal changes affecting the corpus callosum and periventricular areas with a posterior predominance. Our patient made a complete clinical recovery in 36 hours. Clinical examination at this stage showed no evidence of a peripheral neuropathy. A repeat brain MRI 6 weeks later showed almost complete resolution of the changes seen initially. Subsequent investigations showed a Val177Ala mutation in the GJB1 gene. This mutation has so far not been described in the Caucasian population and has been only described once before. Electrophysiological studies showed a mixed demyelinating and axonal sensorimotor neuropathy in keeping with CMTX 1. Five months after the initial presentation our patient developed clinical evidence of a peripheral neuropathy in the form of absent ankle reflexes, weak dorsiflexors, and evertors of both feet.