Eiji Kawashima

A novel transthyretin mutation associated with familial amyloidotic polyneuropathy.

We characterized the mutation associated with familial amyloidotic polyneuropathy in a Japanese patient. Sequence analysis of polymerase chain reaction-amplified exons of the transthyretin gene revealed a novel point mutation resulting in a substitution of arginine for glycine at position 47. The mutation was confirmed using allele-specific olgonucleotide hybridization procedures. This most likely represents a de novo mutation since neither parent carries the mutant allele.

Isolated Right Ventricular Hypoplasia: Intraoperative Balloon Occlusion Test

A 42-year-old woman with isolated right ventricular hypoplasia underwent operation. To determine the optimal procedure, we temporarily occluded the atrial septal defect with a balloon catheter that was introduced through the right atrial appendage. The hemodynamics were stable throughout the occlusion test. Simple closure of the atrial septal defect was safely accomplished. Intraoperative occlusion test with the balloon catheter was a good alternative to preoperative occlusion test.