Introduction: Restrictive cardiomyopathy (RCM) is characterized by increased myocardial stiffness resul-ting in marked increases in ventricular filling pressure. In many cases, the diagnosis of RCM is difficult due to the variety of possible causes, including genetic disor-ders such as haemochromatosis, familial amyloidosis or mutations of genes encoding sarcomeric proteins.
Methods: We present the case of a 41-year-old patient with a family history of RCM (aunt) diagnosed 5 years ago with RCM after an episode of paroxysmal atrial fi-brillation with heart failure symptoms for several years. Now she presented for dyspnea at rest, physical asthe-nia and volume increase of bilateral calves.
Results: Clinical admission at our clinic reveals typical signs of systemic congestion (edemas, jugular turges-cence, bilaterally abolished vesicular murmur, hepato-megaly, jaundice sclera). On the ECG, atrial fibrillati-on, intraventricular non-specific conduction disorder with secondary changes of the repolarization phase is observed. Biological data: NTproBNP=3900 pg/ml, he-patic cholestasis, hypoalbuminemia, electrolyte imba-lance, possibly secondary to diuretic treatment (serum Na 130 mEq/l, serum K 3.6 mEq/l). Echocardiography reveals biatrial dilatation, preserved LV ejection frac-tion, longitudinal systolic dysfunction (GLS -12), type I diastolic dysfunction, moderate mitral insufficien-cy, secondary PAH, RV dysfunction (TAPSE 13 mm), bilateral pleural fluid. Cardiac MRI evaluation con-firms the suggestive aspect for RCM. Extensive genetic analysis was performed which revealed mutations of the MYH7 gene.
Conclusions: The final diagnosis was restrictive cardi-omyopathy – familial form based on echocardiographic changes, cardiac MRI result and MYH7 gene mutation. Although mutations of the MYH7 gene are known to cause cardiomyopathy with hypertrophic phenotype, its association with the restrictive phenotype, although rare, is known and reported in literature, which is the aspect that individualises this case.