14th International Congress
THE "NEW FRONTIERS"
OF ARRHYTHMIAS 2000

Jan. 29 - Feb. 5, 2000
Marilleva, Trento, Italy

RT-155

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

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

The high incidence of congestive heart failure (CHF) observed in young patients, due to the clinical scenario of an underlying primary dilated cardiomyopathy (PDC) has triggered the problem of correctly identifying the etiology of such disorders. In recent years, a modern and more accurate approach to the diagnosis of cardiomyopathies with and without a peripheral myopathy, in children and young adults, has been used (Tab. I, Figs. 1 and 2). In fact, a genetic origin of many cases of cardiomyopathies have been proposed and specifically a more accurate identification of genetical cardiomyopathies has been employed^1-34 (Tab. I, Figs. 1 and 2).

Fig. 1: Modern algorithm to diagnose CM associated with neuromuscolar disease.

Fig. 2

In the wide spectrum of these diseases excluding PDC, the incidence of genetic primary cardiomyopathies (DC) associated with a peripheral myopathy (PMI) is relevant^1,2.

In other words, in young subjects, with a family history of PMI, a complete cardiovascular evaluation should be undertaken. Conversely, when a DC is discovered in young patients, a complete clinical and genetic work up should be undertaken to exclude a form associated with or complicating a pheripheral myopathy^1-33.

Our experience, in collaboration with the neurologists, shows that, among these forms, the most frequently observed are the Duchenne, Becker myopathies complicated by DC, the Steinert’s (SMC) and the Friederich’s diseases (Tab. I, Figs. 1 and 2).

TABLE I - Neuromuscular disorders associated with CM

Echocardiographic or pathological patterns are indicated for characterized diagnoses. H = hypertrophic CM; D = dilated CM; R = restrinctive CM; modified from Schwartz².