Category: Brief Report and Case Report

A crucial clinical suspicion in individual admitted to Emergency Department for syncope: a case report

Rosario Bottone1, Tiziana Ciarambino1, Anna De Vita1, Mauro Giordano2
 
1) Department of Advanced Medical and Surgical Sciences, University of Campania "L. Vanvitelli", Italy
2) MD, PhD
, Associate Professor of Internal Medicine
, Chief of Postgraduate School of Emergency Medicine
. Department of Advanced Medical and Surgical Sciences, University of Campania “L. Vanvitelli”, Naples, Italy
 

Background

This case report aim to underline the importance of a clinical suspicion of arrhythmogenic right ventricular dysplasia (ARVD) in individuals admitted to ED for syncope or for malignant ventricular arrhythmias even when the patient is not a young one or is not an athlete. ARVD is a myocardial disease, often familial, that is characterized by a progressive fibro fatty replacement of the right ventricular myocardium and clinically by ventricular arrhythmias of right ventricular origin, which may lead to sudden death, mostly in young people and athletes. Diagnosis id often difficult because there is no a single test used for. Diagnosis is based on the presence of structural, histological data, EKG and genetic factors according to the 1994 Task Force and successive modifications.

Case report

A 72 years old female patient was admitted to ED for referred syncope. Her main complain at the time of admission was a diffuse pain, identified as Numeric Rating Scale (NRS) 7. On physical exam: post-traumatic left cheekbone ecchymosis, negative cardiopulmonary examination. Neurological exam revealed hypertonia, hypereflexia, hyperesthesia, hypotonic involving both superior and inferior limbs. On EKG we observed sinusal tachycardia (hearth rate 112 bpm); cervical south compuretized tomography (CT) was negative. Patient was suffering but stable during the night. Suddenly we assisted to a worsening of the patient clinical condition with drop of the arterial blood pressure treated with noradrenaline and a worsening of the respiratory condition, which required airway intubation. Cervical magnetic resonance (CMR) was performed as an emergency diagnostic exam for suspected neurological shock. CMR showed a cervical spinal cord injury (C2-C3 level). EKG was performed again and it shower a sinusal rhythm with 70 bpm and Epsilon wave which is included in the major criteria for the diagnosis of ARVD. Echocardiogram showed right ventricular dilatation, met the major criteria for ARVD (local, apical RV dyskinesia), which could be identified as a possible cause of the syncope.

Discussion

ARVD is a myocardial disease, often familial, that is characterized by a progressive fibro fatty replacement of the right ventricular myocardium and clinically by ventricular arrhythmias of right ventricular origin, which may lead to sudden death, mostly in young people and athletes1.
ARDV is an inherited disease, with incomplete penetrance and variable phenotypic expression. More than 300 mutations and 12 genes have been identified as involved in ARVD/C mainly with autosomal dominant inheritance2,3.
ARVD/C is often caused by mutations in the desmosomal proteins and RYR2 as well involved in arrhythmia development. Remarkable is that ARVD/C is responsible of 3-10% of sudden cardiac death in individuals under 60 years old. Clinical manifestation of ARVD is ventricular arrhythmia, which can be silent for decades before causing syncope or even sudden death especially less than 40 years old patients. There are several evidences of later onset of this disease in older patients as well as in young people without history of high intensive physical activity4.
Diagnosis id often difficult because there is no a single test used for. Diagnosis is based on the presence of structural, histological data, EKG and genetic factors according to the 1994 Task Force and successive modifications5,7.
Despite histological diagnosis is the only one, which can be considered definitive; the use of endomyocardial biopsy is controversial because of the skipping involvement of the myocardium in this disease8.

Conclusion

This case report aim to underline the importance of a clinical suspicion of ARDV in individuals admitted to ED for syncope or for malignant ventricular arrhythmias even when the patient is not a young one or is not an athlete. Suspicion of ARDV/C should be considered even in elderly patients considering the possible late onset of the disease. Despite the old age, all the diagnostic criteria for ARDV were met so AQRDV was identified as the first cause for syncope and for the subsequent SCIWORA syndrome.
References
  1. Corrado D, Thiene G. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical impact of molecular genetic studies. Circulation 2006; 113:1634-7.
  2. Rigato I, Bauce B, Rampazzo A, et al. Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. Circ Cardiovasc Genet 2013; 6:533-42.
  3. More D, O’Brien K, Shaw J. Arrhythmogenic right ventricular dysplasia in the elderly. PACE 2002; 25(8):1266-1269.
  4. Roguin A, Bomma CS, Nasir K, et al. Implantable Cardiover-ter-Defibrillators in patients with arrhythmogenic right ventri-cular dysplasia/cardiomyopathy. JACC 2004; 43:1843-1852.
  5. Link MS, Wang PJ, Haugh CJ, et al. Arrhythmogenic right ventricular dysplasia: clinical results with implantable cardiover-ter defibrillators. J Interv Card Electrophysiol 1997; 1(1):41-48.
  6. Basso C, Ronco F, Marcus F, et al. 21. Quantitative assessment of endomyocardial biopsy in arrhythmogenic right ventricular cardiomyopathy/dysplasia: an in vitro validation of diagnostic criteria. Eur Heart J 2008; 29:2760-71.
  7. McKenna WJ, Thiene G, Nava A, et al.18. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force ofthe Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Societyand Federation of Cardiology. Br Heart J 1994; 71:215-8.
  8. Marcus FI, McKenna WJ, Sherrill D, 19. et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation 2010; 121:1533-41.
 

 

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