Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings.

Abstract

AIMS:

To determine the frequency of cardiomyopathy in children with mitochondrial disease and describe their clinical course, prognosis and cardiological manifestations.

METHODS AND RESULTS:

Of 301 children with CNS and neuromuscular disease referred to our institution in 1984 to 1999, 101 had mitochondrial disease. Seventeen patients had cardiomyopathy, diagnosed by echo-Doppler investigations, all of the hypertrophic, non-obstructive type. The onset of symptomatic mitochondrial disease ranged from birth to 10 years of age. Eight children had cytochrome-c oxidase deficiency, while the remaining nine had various defects. Cardiomyopathy was diagnosed from birth to 27 years. Left ventricular posterior wall and septal thickness were both increased: z-scores +4.6+/-2.6 and +4.3+/-1.6 (mean+/-SD), respectively. The left ventricular diastolic diameter z-score, +1.3+/-3.4, and fractional shortening, 24+/-13%, displayed marked variations. Nine patients developed heart failure. Eleven patients with cardiomyopathy died, including all eight with cytochrome-c oxidase deficiency, and one patient underwent a heart transplantation. Mortality in children with mitochondrial disease was higher in those with cardiomyopathy (71%) than those without (26%) (P<0.001).

CONCLUSIONS:

In children with mitochondrial disease, cardiomyopathy was common (17%) and was associated with increased mortality. The prognosis for children with cytochrome-c oxidase deficiency and cardiomyopathy appeared to be particularly unfavorable.

• Authors: D Holmgren, H Wåhlander, B O Eriksson, A Oldfors, E Holme, M Tulinius
• Journal: European heart journal (Eur Heart J) Vol. 24 Issue 3 Pg. 280-8 (Feb 2003) ISSN: 0195-668X [Print] England
• PMID: 12590906 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Adolescent
• Adult
• Cardiomyopathy, Hypertrophic (etiology, pathology)
• Child
• Child, Preschool
• Echocardiography, Doppler (methods)
• Electrocardiography (methods)
• Female
• Humans
• Infant
• Infant, Newborn
• Male
• Mitochondrial Diseases (complications, pathology)
• Prognosis
• Survival Analysis