Apical Hypertrophic Cardiomyopathy with a rare MYBPC3 gene mutation variant

摘要

Introduction: Apical hypertrophic cardiomyopathy (AHCM) is a unique form of non-obstructive hypertrophiccardiomyopathy which usually involves the apex of the left ventricle and rarely involves the right ventricularapex or both (1). The right ventricular involvement in AHCM does not present with typical electrocardiographicchanges and leads to a worst prognosis (2). Epidemiological studies in Japan indicated 18% prevalence ofhypertrophic cardiomyopathy (HCM) but only 3% to 10% of other HCM patients worldwide have apicalhypertrophy (3, 8). In AHCM, sarcomere protein gene mutations have been found to be present in up to 13% ofthis patient specific population (4). AHCM has also been occasionally recognized as familial disease, implicatinga primary role for genetics in the development of this morphological pattern of hypertrophy (5). There is someevidence that multiple sarcomere protein gene mutations in a given patient may be associated with an earlieronset of disease and a more severe disease course compared with patients with only one sarcomere protein genemutation (7, 13).