Clinical and histologic studies of a Qatari family with myofibrillar myopathy

Abstract

The current study reports the first family with confirmed myofibrillar myopathy (MFM) in the Middle East and the third family worldwide. This study highlights the importance of considering MFM in young patients presenting with idiopathic cardiomyopathy, arrhythmia or atrioventricular block in the Gulf states. This is the first report that presented 2 different types of cardiomyopathy and 2 different indications of permanent pacemaker placement in the same generation of a family with MFM. This report studies a Qatari family consisting of one brother and 3 sisters. The brother had restrictive cardiomyopathy at the age of 16 years. One sister underwent heart transplantation for severe hypertrophic cardiomyopathy at the age of 15 years, the other sister had permanent pacemaker for complete heart block at the age of 21 years. This report is focused mainly on the clinical presentation and investigations carried out for the brother including echocardiogram, cardiac catheterization, cardiac and skeletal muscle biopsy, and electromyography and electrophysiology studies. The study findings support the diagnosis of MFM.