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Familial left ventricular hypertrabeculation in myotonic dystrophy type 1
Josef Finsterer1, Claudia Stöllberger, Wolfgang Kopsa
1Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria. duarte@aonmail.at
Herz
|August 21, 2003
Summary
Left ventricular hypertrabeculation (LVHT) is a newly identified cardiac manifestation in myotonic dystrophy type 1 (MD1). This familial occurrence highlights LVHT as a potential sign of MD1, even in the absence of other cardiac symptoms.
Area of Science:
- Cardiology
- Genetics
- Neuromuscular Disorders
Background:
- Myotonic dystrophy type 1 (MD1) is a multisystem disorder.
- Familial left ventricular hypertrabeculation (LVHT) has not been previously described in MD1.
Observation:
- A father and daughter with MD1 both presented with LVHT.
- The father had a DMPK gene expansion of 300 CTG repeats and ST elevation on ECG.
- The daughter had a DMPK gene expansion of 140 CTG repeats and normal cardiac evaluations.
Findings:
- Echocardiography revealed LVHT in both MD1 patients.
- Cardiac MRI confirmed LVHT in the daughter.
- LVHT was previously associated with other genetic disorders but not MD1.
Implications:
- LVHT may represent a cardiac manifestation of MD1.
- This finding suggests a potential familial occurrence of LVHT in MD1.
- LVHT in MD1 can be isolated or associated with other cardiac abnormalities.