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.