Introducere: Restrictive cardiomyopathy (RCM), cha-racterized by severe diastolic dysfunction with normal contractile function, is very rare in children. There are genetic abnormalities as well as idiopathic cases. Gene-rally, the prognosis is poor. During follow-up it is re-commended to screen for cardiac arrhythmia and con-duction disorders and to identify the optimal moment for heart transplantation.
Methods: A six year old boy was admitted for sympto-matic sustained ventricular tachycardia (VT) and was electrically converted to sinus rhythm. Physical exami-nation revealed short stature and low weight for age, kyphoscoliosis, and proximal retractions. The echocar-diography showed typical findings for RCM (signifi-cant biatrial enlargement, normal ventricular systolic function, restrictive pattern of trans-mitral diastolic flow, RV-RA gradient = 40 mmHg). Blood tests revea-led persistent elevated serum CK.
Results: T he patient presented recurrent paroxysmal supraventricular tachycardia despite antiarrhythmic treatment and prolonged QT and PR intervals. Electro-physiological study showed nodal reentrant tachycardia and no inducible VT. Radiofrequency ablation of slow pathway was performed, with no post-procedural ar-rhythmia but with isolated premature ventricular con-tractions. Familial screening sugested X-linked mus-cular dystrophy (probably Emery-Dreiffus) (patient’s mother had kyphosis and elevated CK, patient’s brother was diagnosed with RCM and kyphoscoliosis). EMG tracing suggested myopathy in both children.
Conclusions: We hereby report the case of a pati-ent with familial RCM due to an X linked muscular dystrophy (genetic testing will prove the diagnosis). There is a well-known association between muscular dystrophy and cardiac involvement. In patients with muscular abnormalities an early diagnosis of muscu-lar dystrophy is important as well as periodic screening for cardiac involvement. The patients may benefit from cardio-protective therapy which can slow the pro-gression of the disease and from specific therapeutic/ prophylactic intervention (ICD/cardiac ablation).