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Cardiac involvement in facioscapulohumeral muscular dystrophy
Josef Finsterer1, Claudia Stöllberger, Gerhard Meng
1Neurological Department, Krankenanstalt Rudolfstiftung, Vienna, Austria. duarte@aonmail.at
Cardiology
|November 20, 2004
Summary
Cardiac involvement in facioscapulohumeral muscular dystrophy (FSHMD) can include myocardial thickening. This case report highlights ventricular thickening as a potential manifestation of FSHMD cardiac issues.
Area of Science:
- Cardiology
- Genetics
- Neurology
Background:
- Facioscapulohumeral muscular dystrophy (FSHMD) is a genetic neuromuscular disorder.
- Cardiac involvement (CI) is recognized in FSHMD, but myocardial thickening has not been previously reported.
- Genetic confirmation of FSHMD involves analyzing the D4Z4 locus on chromosome 4q35.
Observation:
- A 50-year-old male with genetically confirmed FSHMD (tandem repeat size 17 and 14 kb) presented for cardiologic evaluation.
- Initial clinical investigations, including ECG and echocardiography, revealed specific abnormalities.
- Despite normal funduscopy and ambulatory monitoring, ECG showed incomplete right bundle branch block and signs of hypertrophy.
Findings:
- Echocardiography demonstrated significant left ventricular myocardial thickening.
- The posterior wall measured 11.7 mm and the septum measured 15.5 mm.
- These findings indicate myocardial thickening as a potential manifestation of CI in FSHMD.
Implications:
- Cardiac involvement in FSHMD may present with myocardial thickening beyond typical ECG abnormalities.
- This case expands the understanding of cardiac manifestations in genetically confirmed FSHMD.
- Further research is warranted to explore the prevalence and mechanisms of myocardial thickening in FSHMD patients.