Restrictive cardiomyopathy with ring chromosome 6 anomaly in a child

Özet

Restrictive cardiomyopathy (RCM) is a rare disease characterized by restrictive filling and decreased diastolic volume of the heart. It is the rarest cardiomyopathy among all cardiomyopathies with approximately 2.5%–5% ratio (1). The prognosis is poor and if transplant is not performed, death usually occurs two to three years after diagnosis (2). The ring chromosome 6 anomaly is an extremely rare chromosomal anomaly. It is formed by breakage in the terminal portions of chromosome 6 and then the re-fusion of these broken terminal parts (3). This article reports a case of RCM with a ring chromosome 6 anomaly [r6 (p25q27)], which to the authors’ knowledge, has not previously been reported in the literature.