Fitzpatrick A P, Emanuel R W
Cardiac Department, Westminster Hospital, London.
Br Heart J. 1988 Sep;60(3):247-51. doi: 10.1136/hrt.60.3.247.
Two siblings from a family in which neurofibromatosis was inherited as an autosomal dominant had hypertrophic cardiomyopathy and neurofibromatosis. Idiopathic hypertrophic cardiomyopathy may have occurred by chance in two first degree relatives with neurofibromatosis. An alternative explantation is that these diseases are both manifestations of a common hereditary defect of neural crest tissue. Another possibility is that abnormalities of catecholamine metabolism and nerve growth factor in neurofibromatosis can cause secondary ventricular hypertrophy with septal involvement.
一个神经纤维瘤病以常染色体显性方式遗传的家族中的两名兄弟姐妹患有肥厚型心肌病和神经纤维瘤病。特发性肥厚型心肌病可能偶然发生在两名患有神经纤维瘤病的一级亲属身上。另一种解释是，这些疾病都是神经嵴组织常见遗传缺陷的表现。另一种可能性是，神经纤维瘤病中儿茶酚胺代谢和神经生长因子的异常可导致继发性心室肥厚并累及室间隔。
