Autor:innen:
T. Popoiu (Timisoara, RO)
G. Doros (Timisoara, RO)
A. Popoiu (Timisoara, RO)
Introduction:
Restrictive cardiomyopathy (RC), the least common among cardiomyopathies, has the worst prognosis. We reviewed presentation and outcomes of 3 cases of idiopatic RC.
Methods:
We present 3 cases of idiopathic RC, male : female ratio 2:1. In all cases the diagnosis was done on ECG, Holter-ECG, echocardiography, genetic testing. In the follow-up cardiac catheterisation was performed in 2.
Results:
The mean age at diagnosis of 4,5 ±1,3 years. The presenting symptoms were fatigue, failure to thrive (mean BMI 12,8±0,83), hepatomegaly in all. In a 2 year old boy seizures, followed by right hemiplegia were the first symptoms. RC with spontaneous echocontrast phenomenon, was the cause of embolic cerebral stroke. While waiting for cerebral MRI, 2 days later he had progressive dyspneea, costal retractions with several micropulmonary embolic events, followed by a massive cerebral stroke and death. The second male patient was diagnosed at 6 years, with hepatomegaly, ascites, fatigue. RC was diagnosed, he was listed for heart transplant, but never received a donor. He is still alive 13 years later, with decompensated cardiac cirrhosis with massive ascites, cachexia (23 kg at 19 years), pulmonary hypertension with repeated episodes of hemoptysia and supraventricular tachycardia. A 5 years old girl accused reccurent abdominal pains, hepatomegaly, cough. She was referred to heart transplant soon after the RC diagnosis.
Mean echocardiographic parameters are LA diameter 49±12 mm, LA volume index 62± 24 ml/m2, deceleration time 104 ± 19 ms.
The genetic test showed in all 3 cases a TNNI3 mutation, heterozigot status, pathogenic mutation(1), possible pathogenic (2).
Conclusion:
Restrictive cardiomyopathy have a poor prognosis in the absence of heart transplant, with a reported 2 year survival rate below 50%. We present an usual case of 13 years survival after diagnosis, with cardiac cirrhosis, ccachexia, pulmonary hypertension and supraventricular arrythmias, in contrast with another case with rapid evolution to death due to thromboembolic events.