Weintraub R G, Swinburn M J, Lee L
Department of Cardiology, Prince of Wales Children's Hospital, Randwick, New South Wales, Australia.
Aust Paediatr J. 1987 Aug;23(4):249-51. doi: 10.1111/j.1440-1754.1987.tb00261.x.
An infant of a diabetic mother is described with severe neonatal hypertrophic obstructive cardiomyopathy. Commencement of regular intravenous propranolol was associated with marked clinical improvement. Long-term oral propranolol was continued and at 12 months of age there was complete resolution of the cardiomyopathy. Familial hypertrophic cardiomyopathy hypertrophy was present in two other generations of this family. The results of family screening and tissue typing are presented, with the suggestion that tissue typing may be a useful tool in the assessment of doubtful cases in certain affected families.
本文描述了一名患有严重新生儿肥厚性梗阻性心肌病的糖尿病母亲的婴儿。开始定期静脉注射普萘洛尔后临床症状显著改善。长期口服普萘洛尔持续进行，在12个月大时心肌病完全消退。该家族的另外两代人存在家族性肥厚性心肌病。本文展示了家族筛查和组织分型的结果，并提出组织分型可能是评估某些受影响家族中可疑病例的有用工具。
