Backstage games. Challenges in diagnosing the aetiology of dilated cardimyopathy in related patients

Introduction: Dilated cardiomyopathy is a common diagnosis in clinical practice, with difficult management regarding underlying aetiology, treatment and prognosis. But when it affects young, related patients, exposed to the same cardiovascular risk factors, identifying the responsible cause becomes challenging.

Methods: Clinical case: 27 years old male, previously diagnosed with mental impairment, smoker and heavy drinker, presented into the Emergency Department with signs and symptoms of acute heart failure, eleva-ted NT pro BNP levels and electrical signs of left ventri-cular high pressures. Transthoracic echocardiography shows severely dilated LV (250 ml), ejection fraction (EF) 15%, GLS – 4.2%, severe secondary mitral regurgi-tation and moderate tricuspid regurgitation. It must be noted that that the patient had family history of sudden cardiac death (his mother) and a brother, 33 years old, also known with mental impairment, alcohol consumption and smoker, that was admitted to hospi-tal in the same time with acute heart failure. We iden-tified a similar echocardiographic aspect – with severe ventricular dilation, EF 25%, GLS -6.7%, severe mitral and tricuspid valvulopathies.

Results: T he patients were administered heart failu-re treatment (ACE, beta blockers, antialdosternone agents, loop diuretics) and performed cardiac MRI. Despite nonconclusive acquisitions for the underlying aetiology, the investigation showed similar abnormaliti-es: septal fibrosis (frequent in dilated cardiomyopathy) and severe hypokinetic anterior and posterior walls. At this point, we are dealing with a particular case: two young brothers, with the same cognitive disorder, ne-wly diagnosed dilated cardiomyopathy, probably with genetic component but also exposed to alcohol abuse. The patients were firstly reevaluated 3 months after treatment initiation and recommendation for alcohol withdrawal. The 28 years old brother, completely ab-stinent has an EF increased by 30% (from 15% to 45%) and mild mitral regurgitation, but the older patient, who underwent treatment but only reduced the alcohol quantity had an EF increase by only 15%. The brothers were sent to a different clinic for genetic testing in or-der to identify a possible familial disorder. Moreover, the other members of the family were examined (the father, a brother and two sisters), without finding evidence of cardiac disease.

Particularity of the case: Diagnosing the aetiology of dilated cardiomyopathy in our case can represent a challenge: it is either idiopathic familial DCM, considering the association with mental impairment, early onset and similar imagistic aspect, or an ethanolic cardiomyopathy, because of the spectacular evolution af-ter withdrawal. The association of the two cannot be excluded.

Conclusions: When facing complex cases of DCM, increased attention for family history, integrated clini-cal and imagistic data are essential not only for initia-tion and monitoring the patients’ treatment, but also for evaluatining others members of the family. Both entities: familial idiopathic DCM and ethanolic cardi-omyopathy, althought frequent in clinical practice, are controversial and need further studies.

ISSN – online: 2734 – 6382
ISSN-L 1220-658X
ISSN – print: 1220-658X
The Romanian Journal of Cardiology is indexed by:
ESC search engine
CODE: 379
CME Credits: 10 (Romanian College of Physicians)
This work is licensed under a Creative Commons Attribution 4.0 International License.