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

## TL;DR

A rare case of apical hypertrophic cardiomyopathy with fibrosis and calcification is described, emphasizing the importance of multimodal imaging to avoid misdiagnosis as cancer.

## Contribution

This case highlights the rare coexistence of apical HCM with EMF and MC, and the potential for FDG-PET to mislead as malignancy.

## Key findings

- Multimodality imaging revealed apical hypertrophy, cavity obliteration, fibrosis, and calcification.
- FDG-PET showed intense apical uptake, initially suggesting malignancy but later attributed to HCM.
- Genetic testing identified a pathogenic MYH7 variant in the patient.

## Abstract

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.