Objetives
To describe conduction abnormalities and cardiac arrhythmias in four patients (pts) with neuromuscular disorders and confirmed mutations in LMNA/C gene.
Material and Methods
EKG and Holter alterations were evaluated in 4 pts
The cardiac events appeared at age between 9 and 13 years.
Results
Patients were referred to the cardiologist with sustained atrial tachycardia (AT) with cardiac collapse in two case and non sustained AT with palpitations in one pts.
The EKG findings in 3 pts were: very low-amplitude P wave, progressive first degree AV block and left anterior hemiblock. Two of the latter evolved to complete LBBB. Only one patient still persist with a normal EKG.
In Holter monitoring all pts showed premature atrial beats and episodes of atrial tachycardia. Frequent single premature ventricular contractions (PVC) were detected in 3 pts, multiform PVC in 2 , couplets in 2 and non sustained ventricular tachycardia in 1 case.
Two patients with progressive AV block and associated LBBB received permanent pacemakers.
At present all pts have normal ventricular diameters and function (ejection fraction more than 66%)
Conclusions:
The first clinical manifestation of cardiac involvement in patients with diagnosis of EDMD caused by a mutation in the LMNA gene could be the presence of palpitations due to symptomatic atrial tachycardia.
In Holter recording early detection of premature atrial / ventricular contractions usually with repetitive forms is the rule .
Disorders of atrioventricular and intraventricular conduction were rapidly progressive.
In the initial course of the disease systolic ventricular function was not affected.