Cardiomyopathy, Dilated, 1ii

A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-1II (CMD1II) is caused by heterozygous mutation in the CRYAB gene (123590) on chromosome 11q23.

Inagaki et al. (2006) studied a 71-year-old Japanese woman with mild, late-onset dilated cardiomyopathy (CMD) who developed cardiac symptoms only after the fourth decade of life. Her electrocardiogram (ECG) showed ventricular tachycardia, with apparent inverted T waves in leads V4 to V6. She had 6 sibs, 2 of whom had CMD at ages 56 and 66 years; 2 other sibs had sudden cardiac death at ages 60 and 72 years.

Pilotto et al. (2006) reported a 48-year-old woman with mild, late-onset CMD, characterized by mild left ventricular dilation, moderately decreased ejection fraction, mild mitral regurgitation, and mildly increased serum CPK (279 U/l). ECG showed sinus rhythm and negative T waves in the precordial leads (V4 to V6). Cataract was absent. The patient's father died at age 80 after a 20-year history of congestive heart failure due to CMD. Pilotto et al. (2006) noted that the minimally increased serum CPK in this patient suggested possible subclinical muscle involvement.

In 130 unrelated Japanese patients with dilated cardiomyopathy, including 36 familial cases, who were negative for mutations in known CMD genes, Inagaki et al. (2006) analyzed the CRYAB gene (123590) and identified a heterozygous missense mutation (R157H; 123590.0006) in a 71-year-old woman with mild, late-onset disease.

Pilotto et al. (2006) screened the CRYAB gene in 200 consecutive patients diagnosed with autosomal dominant or sporadic CMD, and identified a heterozygous missense mutation (G154S; 123590.0007) in a 48-year-old woman with recently diagnosed CMD. DNA was unavailable from her father, who died at age 80 after a 20-year history of congestive heart failure due to CMD.