Published online May 22, 2006
PEDIATRICS Vol. 117 No. 6 June 2006, pp. e1187-e1192 (doi:10.1542/10.1542/peds.2005-2469)
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Cardiac Involvement in Fukuyama-type Congenital Muscular Dystrophy

Toshio Nakanishi, MDa, Masako Sakauchi, MDb, Yoshio Kaneda, MDc, Hirofumi Tomimatsu, MDa, Kayoko Saito, MDd, Makoto Nakazawa, MDa and Makiko Osawa, MDb

a Department of Pediatric Cardiology, Heart Institute of Japan
b Department of Pediatrics
c Department of Pathology
d Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan

BACKGROUND. Fukuyama-type congenital muscular dystrophy is an autosomal recessive disorder characterized by generalized skeletal muscle weakness and hypotonia from early infancy and by mental retardation. Little is known about cardiac involvement in patients with Fukuyama-type congenital muscular dystrophy. This study evaluated whether cardiac involvement exists in patients with Fukuyama-type congenital muscular dystrophy.

METHODS AND RESULTS. We evaluated left ventricular function using M-mode and Doppler echocardiography in 34 patients with Fukuyama-type congenital muscular dystrophy. The age ranged from 6 months to 30 years (median: 6 years). A total of 64 recordings were analyzed. Left ventricular dimensions and parameters of systolic function measured included left ventricular end-diastolic dimension, left ventricular fractional shortening, left ventricular wall thickness, and the mean velocity of circumferential fiber shortening and end-systolic wall stress relationship. Left ventricular end-diastolic dimension z score >2 was observed in 2 patients (6%). Left ventricular fractional shortening <0.28 and/or reduced mean velocity of circumferential fiber shortening in the mean velocity of circumferential fiber shortening-end-systolic wall stress relationship were observed in 16 patients (47%). A significant correlation between age and left ventricular fractional shortening was observed, and left ventricular fractional shortening decreased with age. Of 12 patients >15 years of age, 10 (83%) showed decreased left ventricular systolic function. Left ventricular fractional shortening was normal in most patients <10 years of age, and it was reduced in most patients >15 years of age. Five patients died of heart failure or respiratory problems, and a histologic examination confirmed the presence of myocardial fibrosis. No patients showed increased left ventricular wall thickness or a conduction abnormality on electrocardiograms.

CONCLUSION. Cardiac involvement exists in patients with Fukuyama-type congenital muscular dystrophy and becomes evident in older children in the second decade. A cardiac evaluation, including echocardiograms and subsequent follow-up, is important, especially in patients >10 years of age.

Key Words: muscles • heart failure • echocardiography • cardiomyopathy

Abbreviations: FCMD—Fukuyama-type congenital muscular dystrophy • ECG—electrocardiography • LV—left ventricular • LVEDD—left ventricular end-diastolic dimension • LVFS—left ventricular fractional shortening • LVWth—left ventricular wall thickness • mVcf—mean velocity of circumferential fiber shortening • ESWS—end-systolic wall stress • ACE—angiotensin-converting enzyme

Accepted Dec 14, 2005.


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