Atypical clinical presentation, a trap in the diagnosis of rare diseases

Introduction: Arrhythmogenic right ventricular dys-plasia is the second cardiac mortality cause in young adults. It is difficult to estimate the prevalence due to the challenging nature of the diagnosis, especially in the early phase of the disease. The diagnosis is much more difficult for the young patients, oligosymptoma-tic, with an atypical presentation.

Objective: T he purpose of this paper is to highlight that maintaining a high level of suspicion and tho-rough investigation of the patient may sometimes be necessary, especially in the case of young adults with atypical clinical presentation that can hide a rare and dangerous disease.

Methods: We present the case of a 35 year old male patient, with cardiovascular risk factors (hypertension, dyslipidemia, obesity), under treatment, with no signi-ficant family history, who was admitted to the hospital for two episodes of loss of consciousness at rest, witho-ut prodrome or postcritical deficit, not related to effort. The status of the patient was assessed through clinical and paraclinical examination, with a focus on cardiolo-gic (electrocardiogram at rest, cardiac ecography, EKG Holter monitoring, exercise electrocardiogram tread-mill heart test, cardiac magnetic resonance imaging) and neurologic (electroencephalography, cerebral computer tomography) tests.

Results: The cardiac and neurologic clinical examinati-on was within normal limits. The electrocardiogram at rest revealed sinus rhythm with repolarisation abnor-malities (negative T waves in the anterior leads) and intermittent junctional rhythm with ventricular rate up to 35/min, asymptomatic. The ecocardiography poin-ted out mild right ventricular dilatation (right ventri-cular outflow and inflow tract), with preserved global ejection fraction (measured as the right ventricle frac-tional area change), but with decresed tissue velocities in the apical half of the right ventricle free wall, using the TDI (tissue Doppler imaging) technique. The cardi-ac magnetic resonance imaging identified areurysmal, dyskinetic areas in the right ventricle free wall. The electroencephalography and the cerebral computer to-mography did not emphasize any pathological findings. Conclusions: The case particularities include the late onset (35 year old), with atypical clinical and paraclini-cal presentation regarding the conduction abnormali-ties and the absence of personal and familial history of rhythm abnormalities, in a young man with high ima-gistic and electrocardiographic suspicion of arrhyth-mogenic right ventricular dysplasia. This case poses difficulty in diagnosis and treatment because the con-duction abnormalities represent a contraindication for the use of ventricular arrhythmia primary prevention medication but in the absence of symptoms and seve-re right ventricle disfunction the patient does not have indication, according to the current guidelines, for any other type of interventional treatment.

ISSN – online: 2734 – 6382
ISSN-L 1220-658X
ISSN – print: 1220-658X
The Romanian Journal of Cardiology is indexed by:
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CODE: 379
CME Credits: 10 (Romanian College of Physicians)