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Apical hypertrophic cardiomyopathy with apical endomyocardial fibrosis and calcification: Two case reports
Weiliang Huang1, Lina Guan1, Liwen Liu2
1Department of Echocardiography, First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang.
Insights
Apical hypertrophic cardiomyopathy (AHCM) can present with concerning imaging findings, suggesting a poor prognosis despite its rarity. Multimodality imaging is crucial for accurate diagnosis and ruling out other cardiomyopathies.
Area of Science:
- Cardiology
- Cardiovascular Imaging
- Genetics
Background:
- Apical hypertrophic cardiomyopathy (AHCM) is a rare variant of hypertrophic cardiomyopathy affecting the left ventricular apex.
- Typically, AHCM does not involve left ventricular enlargement, endomyocardial fibrosis, or calcification.
Observation:
- Two female patients presented with atypical chest pain, dyspnea, exercise intolerance, and palpitations.
- Magnetic resonance imaging and SPECT confirmed AHCM; echocardiography revealed left atrial and ventricular enlargement, endomyocardial fibrosis, and calcification.
Findings:
- Genetic testing for hypertrophic cardiomyopathy (HCM) was negative in both cases.
- A gene mutation for dilated cardiomyopathy (TMPO) was identified in one patient.
- Patients showed no change in condition during follow-up.
Implications:
- This case report challenges the generally benign prognosis of AHCM, with imaging suggesting a poorer outlook.
- Accurate diagnosis of cardiomyopathy necessitates comprehensive multimodality imaging to exclude differential diagnoses.
- The findings highlight the importance of advanced imaging in characterizing complex cardiac conditions.
Rationale:
Apical hypertrophic cardiomyopathy (AHCM) is a rare form of hypertrophic cardiomyopathy which affects predominantly the apex of the left ventricle. Generally, left ventricular enlargement is not present in AHCM; additionally, endomyocardial fibrosis, and calcification are also rare.
Patient Concerns:
A 61-year-old female (Case 1) and a 60-year-old female (Case 2) both presented with the symptoms of atypical chest pain, dyspnoea, exercise intolerance, palpitations.
Diagnosis:
Magnetic resonance and single-photon emission computed tomography (SPECT) revealed apical hypertrophic cardiomyopathy. Furthermore, 2D-transthoracic echocardiogram showed left atrium and ventricular enlargement, as well as endomyocardial fibrosis and calcification. Based on these findings, the patients were diagnosed with AHCM.
Interventions:
Both the patients were treated with ACEI, metoprolol, and aspirin. Additionally, both these patient underwent genetic test.
Outcomes:
The results of the genetic test of the 2 cases for hypertrophic cardiomyopathy (HCM) were negative. However, the gene mutation for dilated cardiomyopathy (TMPO) was detected in one of the cases. No change in condition during follow-up.
Lessons:
In past reports, Apical hypertrophic cardiomyopathy has been shown to have a benign prognosis. But in this case report, the imaging studies of the 2 patients suggest a poor prognosis. Furthermore, diagnosing cardiomyopathy should require multimodality imaging examinations to rule out differential diagnoses.
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