J Indian Acad Forensic Med. April-June 2012, Vol. 34, No. 2
ISSN 0971-0973
Case Report Sudden Death due to Arrhythmogenic Right Ventricular Dysplasia: A Medico-legal Case Report *Amit M. Patil, **Vyankatesh T. Anchinmane, *Vikas S. Kavishwar
Abstract Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. The prevalence of ARVD/C is estimated as 1:1000 to 1:1250 in the general population. Although it is a relatively uncommon cause of sudden cardiac death, it accounts for up to one fifth of sudden cardiac death in people less than 35 years of age. Clinical presentation of ARVD/C usually consists of arrhythmias of right ventricular origin that include premature ventricular beats, sustained ventricular tachycardia and ventricular fibrillation that can lead to sudden death. The authors present a case of a 26 year old young male, carpenter by occupation, previously healthy, with sudden death. The internal and external postmortem findings were normal except for mild right ventricular hypertrophy. But histo-pathological examination of heart tissues revealed replacement of myocardial tissue with mature fibrofatty tissue. The following medico-legal autopsy case is being reported for its rarity and the importance of histopathology to find out the cause of death.
Key Words: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), sudden death It is due to replacement of the myocardium by fatty and fibrous tissue. [3] Clinical presentation of ARVD usually consists of arrhythmias of right ventricle origin that include isolated premature ventricular beats, sustained ventricular tachycardia, and ventricular fibrillation that can lead to sudden death [4, 5]. Although it has been estimated that the disease afflicts about 1 in 5000 persons in the United States, the exact prevalence is unknown. [6]
Introduction: Death is said to be sudden or unexpected when a person not known to have been suffering from any dangerous disease, injury or poisoning is found dead or dies within 24 hours after the onset of terminal illness (WHO). Some authors limit sudden death as those occurring instantaneously or within one hour of onset of symptoms. [1] Not uncommonly, medico-legal autopsies are conducted in cases of sudden and unexpected deaths primarily to establish the cause of death in cases where such deaths have occurred in apparently healthy individuals under suspicious circumstances. [2] Arrhythmogenic right ventricular dysplasia or cardiomyopathy [ARVD or ARVC] is a heart muscle disease, often familial, characterized by structural and functional abnormalities of the right ventricle.
Case History: 26 years-old male, carpenter by occupation had chest pain and was immediately brought to the tertiary care hospital within half an hour of onset of symptoms. But he was declared dead in the casualty before admission. As he did not have any past history suggestive of any major diseases and no obvious cause of death, medico-legal autopsy was conducted on the dead body. At autopsy, on external examination he was well built and well nourished person. There was no evidence of any injury or abnormality on external examination. Internally, there was no evidence of any trauma or injuries to the internal organs. All the organs were situated in normal anatomical position. The weight and size of all the organs were also normal. The cut sections of all the organs were showing normal anatomy except the heart which showed mild right ventricular hypertrophy. All the coronary arteries
Corresponding Author: *Associate Professor Dept. of Forensic Medicine and Toxicology, Padmashree Dr DY Patil Medical College Hospital & Research Centre, Nerul, Navi Mumbai 400706 E-mail:
[email protected] **Assist. Prof., Dept. of Pathology Topiwala National Medical College & B Y L Nair Ch Hospital, Mumbai Central, Mumbai-8 *Assoc. Prof., Dept. of Pathology DOR: 11.11.11 DOA: 28.5.12
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J Indian Acad Forensic Med. April-June 2012, Vol. 34, No. 2 were patent. The opinion as to the cause of death was kept preserved for report of histopathological examination of tissues and organs. The organs preserved for histopathological examination were examined after fixation and tissues were taken for biopsy. On histo-pathological examination, except heart, all the organs showed normal histology. The right ventricular wall showed partial replacement of myocardial tissue with mature fatty tissue. The inflammatory infiltrates was not present in the fatty tissue. Focally few myocytes were showing the features of degeneration. (Figure 1)
ISSN 0971-0973
fifth of sudden cardiac death in people less than 35 years of age. [7] Although ARVD may be diagnosed at any age, sudden deaths tend to occur between the ages of 15 and 45 years, with a mean age of about 30 years. [10, 11, 12] Men are affected slightly more often than women. In a series of 200 cases reported by Tabib et al. [12] the mean age was 34 years (range, 5-64 years), and 108 (54%) was male. Although ARVD is considered a rare disorder, it accounted for 10% of all cases of sudden unexpected cardiac death in the study of Tabib et al. The development of ARVD appears to be related to the following 2 processes: 1. Myocyte degeneration (including apoptosis and transdifferentiation), which may be inherited, and 2. Interstitial inflammation, which may be infections (probably post viral) or autoimmune in origin [6]. Both processes may be operative in some patients. Fatty infiltration, which is the hallmark of the disorder, is considered to represent a secondary phenomenon. It has been postulated that myocardial cell death in ARVD might represent a programmed death (“cell suicide”) known as apoptosis. [11] The diagnosis of autosomal dominant ARVD/C is made using a combination of noninvasive and invasive tests to detect abnormalities in cardiac structure and rhythm. Noninvasive testing includes 12-lead ECG, signal-averaged ECG (SAECG), echocardiography, cardiac MRI, Holter monitoring, and exercise stress testing. [13] Invasive testing includes electrophysiologic testing, right ventricular angiography, and right ventricular endomyocardial biopsy. [14] Family history of a known diagnosis of ARVD/C, early or sudden death, and an inheritance pattern consistent with autosomal dominant inheritance support the diagnosis. Clinically the congenital heart disease like Repaired Tetralogy of Fallot, Ebstein's anomaly etc. and Acquired heart disease like Tricuspid valve disease, Pulmonary hypertension, Right ventricular infarction may mimic to ARVD/C. [13] Management is individualized and focused on prevention of syncope, cardiac arrest, and sudden death through use of antiarrhythmic medication, implantable cardioverter-defibrillators, and rarely, heart transplantation. Testing of relatives at risk should be done by screening with noninvasive tests annually during puberty and every two to three years after puberty. [13]
Fig 1: Section from the right ventricular wall showing characteristic partial replacement of myocardial tissue with mature fatty tissue without any inflammatory infiltrate [H & E stain]
The right atrium, left atrium, left ventricle and all the coronaries were showing normal anatomy and histology. So after the histopathological examination, the final cause of death was given as, ‘Death due to cardiac failure in arrhythmogenic right ventricular dysplasia (natural).’
Discussion: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by progressive fibro fatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. [7] Arrhythmogenic right ventricular cardiomyopathy (ARVC) has had various names including Uhl anomaly and right ventricular dysplasia. ARVC was called as arrhythmogenic right ventricular dysplasia (ARVD) till 1996. But now the terms ARVC and ARVD are used interchangeably. [8] The prevalence of ARVD/C is estimated as 1:1000 to 1:1250 in the general population. [9] Although it is a relatively uncommon cause of sudden cardiac death, it accounts for up to one
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Conclusion:
5.
In the present case, the patient was a young person. He had no present or past or family history of cardiac diseases. Since the patient was declared dead before admission there was no clue for his cause of death. Moreover, the external examination and the internal examination of the dead body did not reveal the cause of death. But after the postmortem histopathological examination of tissues especially heart, it was revealed that he was suffering with right ventricular dysplasia in the form of fatty tissue replacement in the myocardium. Because of right ventricular dysplasia, he might have suffered with severe arrhythmia which has leads to his death. Thus postmortem histopathological examination played an important role in concluding the cause of death. Unfortunately after patient’s death, his relatives never came to hospital for their checkups so we remain unaware regarding the ARVD status in their family.
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References:
13.
1. 2. 3. 4.
7. 8.
9. 10. 11. 12.
KS Narayan Reddy. The Essentials of Forensic Medicine and Toxicology. 29th edition. K Suguna Devi; 2010: 122 - 136. Krishan Vij. Textbook of Forensic Medicine and Toxicology. 4th edition. Elsevier; 2008: 134 - 146. Ladislau Hecser, Harald Jung, Katalin Palfi Siklodi and Dacian Biris. Arrhythmogenic right ventricular dysplasia and sudden death. Report of two cases. Rom J Leg Med. 2009; 17 (2): 97 – 100. Corrado D, Fontaine G, Marcus FI, et al. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: need for an international registry. Circulation 2000; 101: e101 –e 106.
14.
187
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Fontaine G, Fontaliran F, Frank R. Arrhythmogenic right ventricular cardiomyopathies. Circulation 1998; 97: 1532 – 1535. Gemayel C, Pelliccia A, Thompson PD. Arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2001; 38: 1773 – 1781. Firoozi S, Sharma S, McKenna WJ. Risk of competitive sport in young athletes with heart disease. Heart 2003; Jul 89 (7): 710 – 714. Richardson P, Mckenna W, Bristow M, Maisch B, Mautner B, O’Connell J, Olsen E, Thiene G, Goodwin J, Gyarfas I, Martin I, Nordet P. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomayopathies. Circulation 1996; 93: 841 – 842. Peters S. Advances in the diagnostic management of arrhythmogenic right ventricular dysplasia – cardiomyopathy. Int J Cardiol 2006; 113: 4 – 11. Lobo FV, Heggtviet HA, Butary J, et al. Right ventricular dysplasia: morphological findings in 13 cases. Can J Cardiol 1992; 8: 261 – 268. Fornes P, Ratel S, Lecomte D. Pathology of arrhythmogenic right ventricular cardiomyopathy/dysplasia: an autopsy study of 20 forensic cases. J Forensic Sci 1998; 43: 777 – 783 Tabib A, Loire R, Chalabreysee L, et al. Circumstances of death and gross and microscopic observations in a series of 200 cases of sudden death associated with arrhythmogenic right ventricular cardiomyopathy/ and/ or dysplasia. Circulation 2003; 108: 3000 – 3005. Prakasa KR, Dalal D, Wang J, Bomma C, Tandri H, Dong J, James C, Tichnell C, Russell SD, et al. Feasibility and variability of three dimensional echocardiography in arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Cardiol 2006; 97: 703 – 709 Nasir K, Bomma C, Tandri H, Roguin A, Dalal D, Prakasa K, et al. Electrographic features of arrhythmogenic right ventricular dysplasia/cardiomyopathy according to disease severity: a need to broaden criteria. Circulation 2004: 110: 1527 – 1534.
