Multimodality imaging of a rare case of apical hypertrophic cardiomyopathy with endomyocardial fibrosis and myocardial calcification: case report and literature review

Apical hypertrophic cardiomyopathy (ApHCM) complicated by endomyocardial fibrosis (EMF) and myocardial calcification (MC) is an extremely rare clinical entity. This report describes a 54-year-old woman with exertional dyspnea and edema. Multimodality imaging revealed apical hypertrophy with cavity obliteration, endocardial fibrosis, and calcification. Notably, ¹⁸F-FDG PET-CT showed intense apical uptake, initially raising suspicion for malignancy. This finding underscores the importance of recognizing that increased FDG uptake can occur in ApHCM to avoid false-positive oncologic interpretations. The diagnosis was confirmed by endomyocardial biopsy-consistent with hypertrophic cardiomyopathy-and genetic testing, which identified a pathogenic MYH7 variant (c.4145G>A, p.R1382Q). A systematic literature review identified 13 reported cases of ApHCM with calcification. All exhibited apical hypertrophy and calcification; most (10/13) had concurrent endomyocardial fibrosis. Genetic testing was performed in 7 cases, with positive results in only 4, highlighting the genetic heterogeneity of this phenotype. This case underscores the value of integrated multimodality imaging in delineating complex structural abnormalities, characterizing calcification, and differentiating this condition from malignancies. Accurate diagnosis requires a combination of clinical presentation, advanced imaging, histopathology, and genetic analysis to guide appropriate management and avoid misdiagnosis.