Gelb B D, Towbin J A, McCabe E R, Sujansky E
Baylor College of Medicine, Houston, Texas 77030.
Am J Med Genet. 1991 Sep 15;40(4):471-6. doi: 10.1002/ajmg.1320400420.
Tetralogy of Fallot, the most common cyanotic heart defect, has not been closely associated with a specific chromosome defect. The San Luis Valley Recombinant Chromosome 8 [SLV Rec(8)] syndrome is strongly associated with congenital heart disease, particularly tetralogy of Fallot. This article reviews SLV Rec(8) syndrome and other chromosome 8 aberrations to suggest locations for cardiogenic genes. SLV Rec(8) [rec(8),dup q,inv(8)(p23q22)] syndrome has been found in Hispanic families in the southwestern United States. Congenital heart disease is found in 93.3% of SLV Rec(8) individuals (n = 45), with tetralogy of Fallot constituting 40.5% of all lesions and conotruncal defects, 55.6%. These frequencies exceed the incidence of tetralogy of Fallot (10%) and conotruncal defects (20%) among all children with heart defects (P less than 0.003 for both). Review of patients with deletion 8p (n = 13) showed heart defects in 84.6% with 27.3% being conotruncal defects. Among duplication 8q patients (n = 20), 45% had heart defects with conotruncal defects constituting 44%. Neither group differed significantly from expected in its incidence of conotruncal defects. Among patients with mosaic trisomy 8 (n = 47), 12 had heart abnormalities including one conotruncal defect. Among 3 patients with other rec(8) chromosomes, one had a ventricular septal defect. The cause of heart defects in SLV Rec(8) cannot be assigned to either the deletion of 8p or the duplication of 8q. The lack of an association between other chromosome 8 abnormalities and tetralogy of Fallot suggests that genes at the SLV Rec(8) breakpoints or an interaction between genes on both arms of chromosome 8 are important.
法洛四联症是最常见的青紫型先天性心脏病，它与特定的染色体缺陷并无紧密关联。圣路易斯谷重组8号染色体[SLV Rec(8)]综合征与先天性心脏病密切相关，尤其是法洛四联症。本文回顾了SLV Rec(8)综合征及其他8号染色体畸变情况，以推测心脏发生相关基因的位置。SLV Rec(8)[rec(8)，dup q，inv(8)(p23q22)]综合征已在美国西南部的西班牙裔家族中被发现。93.3%的SLV Rec(8)个体（n = 45）患有先天性心脏病，其中法洛四联症占所有病变的40.5%，圆锥干畸形占55.6%。这些频率超过了所有患心脏病儿童中法洛四联症（10%）和圆锥干畸形（20%）的发病率（两者P均小于0.003）。对8p缺失患者（n = 13）的回顾显示，84.6%的患者存在心脏缺陷，其中27.3%为圆锥干畸形。在8q重复患者（n = 20）中，45%有心脏缺陷，其中圆锥干畸形占44%。两组圆锥干畸形的发病率与预期相比均无显著差异。在8号染色体嵌合三体患者（n = 47）中，12例有心脏异常，其中1例为圆锥干畸形；在3例其他rec(8)染色体患者中，1例有室间隔缺损。SLV Rec(8)患者心脏缺陷的病因不能归因于8p缺失或8q重复。其他8号染色体异常与法洛四联症之间缺乏关联，这表明SLV Rec(8)断点处的基因或8号染色体双臂上基因之间的相互作用很重要。
