Case history/Examination
A 42-year-old man with a history of heart failure with a mildly reduced ejection fraction of 42% in whom the aetiology of it was under evaluation consulted the heart failure program at a university hospital. He was receiving standard heart failure medications with sacubitril/valsartan, carvedilol, spironolactone, and empaglifozin at maximum tolerable doses.  Among his previous studies, a transthoracic echocardiogram showed a left ventricle with normal size and diameter, systolic dysfunction with a 43% left ventricular ejection fraction (LVEF), grade III diastolic dysfunction, severe tricuspid regurgitation, and moderate mitral regurgitation, along with severe biatrial enlargement and a high probability of pulmonary hypertension.
Besides, a cardiac magnetic resonance (CMR) with late gadolinium enhancement showed a left ventricle with mild dilatation and a decreased systolic function, without contractility disorders; however, with late generalised gadolinium endocardial enhancement with severe mitral regurgitation and moderate tricuspid regurgitation, also with a biatrial and right ventricle dilatation (Figure 1), suggesting a DCM with restrictive physiology taking also into account the previously transthoracic echocardiogram that was performed.
Because of this, secondary causes of DCM such as Chagas disease, alcoholic cardiomyopathy, drugs and toxins causing DCM, and also myocarditis and autoimmune disorders were ruled out. Besides, secondary causes of DCM such as Chagas disease, alcoholic cardiomyopathy, drugs and toxins causing DCM, myocarditis, and autoimmune disorders were too ruled out. Coronary artery disease (CAD) was ruled out too after performing a coronary arteriography (Figure 2).
After holding a multidisciplinary medical meeting, the medical staff considered that the patient had a heart failure with mildly reduced ejection fraction due to a DCM with restrictive physiology from idiopathic or genetic aetiology, for which reason it was carried out a genetic testing of 76 cardiomyopathy genes, which ruled out which ruled out the very common, common, and less common mutation genes for DCM among other cardiomyopathies, according to the ESC guidelines6. Nevertheless, a heterozygous CRYAB mutation was detected as a potential cause of cardiomyopathy.
Consequently, after genetic counselling and also after performing research regarding this mutation, which was found, a DCM with restrictive physiology due to the CRYAB mutation were diagnosed, highlighting the fact that the CRYA mutation is a not common gene mutation related to DCM according to the most recent ESC guidelines6.