RT-155
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Among congenital cardiomyopathies with a peripheral myopathy, Steinert’s cardiomyopathy shows the highest risk of sudden death. Clinical evaluation and follow-up of five families
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Franco Naccarella*, Fabio Iachetti***, Giovannina Lepera, Antonella Bartoletti, Sandra Gabellini**, Mauro Gatti, Mario Coluccini, Patrizia Bertaccini****, Giuseppe Novelli***, Bruno Dallapiccola***.
*Cardiology Department, Azienda USL della Citta di Bologna, Bologna, **Neurology, Maggiore Hospital, Bologna, ***Human Genetic, Universities of Tor Vergata and La Sapienza, Roma,
****Opthalmology Department, University of Bologna, Italy
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Abstract
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Among congenital cardiomyopathies, the most frequently observed are
primary dilated cardiomyopathies (PDC) and dilated cardiomyopathies (DC) in the context of a peripheral
myopathy. The most frequently observed DC is Steinert’ s myopathy-cardiomyopathy (SMC). This condition
manifests itself as a primary cardiomyopathy, complicated by ventricular arrhythmias and/ or progressive
intraventricular conduction disturbances.
We observed and followed up, over time, 5 patients and their families for a total of 42 members, 3 of them known
to carry the SMC. Coversely, two of them were evaluated, mainly for ventricular arrhythmias and different
intraventricular conduction disturbances and previously undiagnosed SMC. Clinical cardiovascular evaluation
included bidimensional echo, 24-hour 12 leads electrocardiography and genetic screening (GS). GS was
obtained to confirm the diagnosis and the severity of the disease which is related, as already known, to CTG
(cytosine-thymine-guanine) triplets repetitions number. Furthermore, we evaluated the severity of the associated
DC and its evolution over time, which was rapidly progressive and at high risk of SD. In fact, a high incidence of
DC was observed in the considered families (45% of the subjects were affected). Of these 7/19 (37%) showed a
clinical picture of CHF at the time of clinical evaluation. Intraventricular conduction delays were observed in
12/42 (29%). Frequent ventricular arrhythmias were found in 23/42 (55%) and major ventricular arrhythmias (VT/VF)
were observed in 3/19 (16%). SD was frequently observed in the different considered families.
Thus, DC is frequently observed in SMC and requires accurate evaluation and often non pharmacological
therapy. In conclusion, in SMC, cardiac involvement seems to be more severe than the peripheral myopathy
itself. These patients and their family members should be carefully followed-up, over time, to institute the
appropriate non pharmacological therapy (permanent pacing and ICD when required.
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Key Words
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