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Prominent papillary muscles in Fabry disease: a diagnostic marker?
Markus Niemann1, Dan Liu, Kai Hu
1Department of Internal Medicine I/Center of Cardiovascular Disease, University of Wuerzburg, Germany.
Insights
Prominent papillary muscles detected via echocardiography can help screen for Fabry disease in patients with left ventricular hypertrophy. This finding suggests a potential new diagnostic marker for early Fabry disease detection.
Area of Science:
- Cardiology
- Medical Imaging
- Genetics
Background:
- Fabry disease is a genetic disorder that can cause cardiac complications, including left ventricular hypertrophy (LVH).
- A prominent papillary muscle has been anecdotally observed in Fabry disease patients, but its diagnostic utility is unproven.
- Early diagnosis of Fabry disease is crucial for timely intervention and management.
Purpose of the Study:
- To investigate whether papillary muscle size can serve as an echocardiographic screening marker for Fabry disease in patients with concentric LVH.
- To compare papillary muscle dimensions in Fabry disease patients with those in other conditions causing LVH and healthy controls.
Main Methods:
- Standard echocardiography was performed on 101 patients with concentric LVH (including Fabry disease, Friedreich ataxia, hypertension, amyloidosis) and 50 healthy controls.
- Papillary muscle areas and left ventricular (LV) endocardial circumference were measured.
- A papillary muscle to LV circumference ratio (PM_LV_ratio) was calculated.
Main Results:
- Papillary muscle area correlated positively with LV wall thickness.
- All patient subgroups exhibited enlarged papillary muscle area and higher PM_LV_ratio compared to controls.
- Fabry disease patients showed significantly larger absolute papillary muscle area and higher PM_LV_ratio than other patient groups.
- Combining enlarged papillary muscle area and increased PM_LV_ratio achieved 75% sensitivity and 86% specificity for detecting Fabry disease in LVH patients.
Conclusions:
- A prominent papillary muscle is a significant echocardiographic marker for identifying Fabry disease in patients with concentric LV hypertrophy.
- The combination of absolute papillary muscle area and PM_LV_ratio offers a promising tool for screening Fabry disease.
- Further research may validate these findings for broader clinical application in Fabry disease diagnosis.
Abstract:
Fabry disease is often linked with a prominent papillary muscle. It remains unknown whether this sign could be used as a diagnostic marker to screen for Fabry patients. Standard echo was performed in 101 consecutive patients with concentric left ventricular (LV) hypertrophy (28 Fabry, 30 Friedreich, 34 isolated arterial hypertension, 9 amyloidosis) and 50 healthy controls. In addition, the areas of both papillary muscles, as well as the LV endocardial circumference, were manually traced in short axis views. A ratio of papillary muscle size to LV circumference was calculated (PM_LV_ratio). The papillary muscle area was positively correlated to LV wall thickness in this cohort (p < 0.0001; r = 0.58). In all patient subgroups, the absolute papillary muscle area was significantly enlarged and the PM_LV_ratio was significantly higher when compared with controls. However, Fabry patients showed a significantly larger absolute papillary muscle area than Friedreich and amyloidosis patients and a higher PM_LV_ratio than hypertensive and amyloidosis patients. Enlarged absolute papillary muscle area was evidenced in 21 (75%), and increased PM_LV_ratio was found in 22 (78%) of 28 Fabry patients. Combining these two parameters yields a sensitivity of 75% and specificity of 86% for diagnosing Fabry disease with LV hypertrophy. Only 10 of 73 non-Fabry patients (14%) (4 Friedreich, 1 amyloidosis, 5 hypertensive) showed an increased absolute papillary muscle area and PM_LV_ratio. In conclusion, this study confirmed the assumption that the prominent papillary muscle could be an echocardiographic marker for detection of Fabry patients with concentric LV hypertrophy.
