Is left ventricular hypertrabeculation/ noncompaction a cardiac manifestation of Fabry's disease?
LVHT does not seem to be a manifestation of cardiac Fabry's disease. To definitively exclude Fabry's disease, however, endomyocardial biopsy is required.
Mutation in CCDC65, a nexin-dynein regulatory complex member, resulted in a frameshift mutation and PCD. The affected individual had altered cilia beating patterns, and no detectable ultrastructural defects of the ciliary axoneme, emphasizing the role of the nexin-dynein regulatory complex and the limitations of certain methods for PCD diagnosis.