Mitral valve prolapse syndrome as cause of sudden death in young adults
Introduction
From a forensic viewpoint, cases of sudden death in young adults may be attributed to lethal manifestations of pre-existing diseases. In this context especially cardiac malformations or diseases might be considered [1], like right ventricular dysplasia [2], coronary arteritis [3] or myocarditis [4].
Rarely, mitral valve prolapse syndrome (MVPS; Systolic-click-syndrome, Barlow-syndrome, Floppy-valve-syndrome, Flail-leaflet-syndrome, myxomytous transformation of the mitral valve) might result in sudden cardiac death. In some of these cases, MVPS can be reliably diagnosed at autopsy and by histological examination of the valve leaflets due to a characteristic morphology. Presenting characteristic cases of sudden death due to MVPS, we point at the clinical and morphologic characteristics and point out aspects concerning sudden death and legal medicine.
Section snippets
Case 1
An 18-year-old girl suddenly collapsed in a bus without expressing any complaints to her accompanying friend. Resuscitation was unsuccessful.
At the age of 5 months, a congenital defect of the ventricular septum was diagnosed, which showed spontaneous closure. Later the onset of a systolic heart murmur accompanied by a midsystolic click with punctum maximum above the apex was observed. ECG revealed no pathologic conditions, while echocardiography showed a systolic ballooning of the mitral valve
Autopsy findings
Autopsy revealed pathoanatomical signs of MVPS in all cases (Fig. 1):
Increase in area, expansion and ballooning of at least one mitral valve leaflet and swollen aspect of the valve margin. Elongation and thickening of the chordae. In some cases fibrous endocardial plaque in close vicinity to the mitral valve.
Histology
In all cases, characteristic histomorphological features of MVPS were seen at examination (Fig. 2):
Loss of fibrous tissue in the central valve fibrosa, replacement by acid mucopolysaccharide.
Toxicology
Toxicological analyses (including ethanol) were negative in all cases.
Discussion
MVPS represents the most common cardiac valvular disorder. Clinical studies have detected a prevalence of 2.4–6% [5], [6], [7], [8]. Basis of the disorder is an expansion, thickening and ballooning of one or both leaflets of the mitral valve with following systolic displacement into the left atrium. Mitral regurgitation might occur. The diagnosis of MVPS can easily be established by echocardiography. At clinical examination, a systolic heart murmur can be heard, not necessarily accompanied by a
Conclusion
In three out of the six presented cases, the deceased had no medical history concerning cardiac symptoms (Table 1), while in only one case with diagnosed MVPS clinical symptoms (arrhythmias) were present. This points at the fact, that even clinically benign cases of MVPS in young adults might result in sudden unexpected death. In none of the cases medical help or help from accompanying persons had been asked for, further suggesting sudden arrhythmic events to be the cause of death, that can
References (30)
- et al.
Arrhythmias and sudden death in mitral valve prolapse
Am. Heart J.
(1987) - et al.
Fibromuscular dysplasia of small coronary arteries and fibrosis in the basilar ventricular septum in mitral valve prolapse
Am. Heart J.
(1997) - et al.
Morphologic comparison of patients with mitral valve prolapse who died suddenly with patients who died from severe valvular dysfunction or other conditions
J. Am. Coll. Cardiol.
(1991) - et al.
Comparison of cardiac findings in patients with mitral valve prolapse who die suddenly to those who have congestive heart failure from mitral regurgitation and to those with fatal noncardiac conditions
Am. J. Cardiol.
(1992) - et al.
A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4
Am. J. Human Genet.
(2003) - et al.
Long-term outcome in patients with Marfan syndrome: is aortic dissection the only cause of sudden death?
J. Am. Coll. Cardiol.
(2003) Sudden cardiac death owing to Pseudoxanthoma elasticum: a case report
Hum. Pathol.
(2000)- et al.
Prevalence of myxomatous mitral valve prolapse in patients with lymphocytic thyroiditis
Am. J. Cardiol.
(1995) - et al.
Long-term follow-up of idiopathic mitral valve prolapse in 300 patients: a prospective study
J. Am. Coll. Cardiol.
(1988) - et al.
Conduction system abnormalities in alcoholics with asymptomatic valvular disease who suffer sudden death
Legal Med.
(2003)
Sudden death in primary mitral valve prolapse
Am. Heart J.
Sudden death during sport and recreational activities in Israel
J. Clin. Forensic Med.
Cardiovascular causes of sudden death in young individuals including athletes
Cardiol. Rev.
Sudden unexpected death in young adult due to right ventricular dysplasia
J. Forensic Sci.
Coronary arteriitis diagnosed at autopsy: three case reports and review of the literature
Am. J. Forensic Med. Pathol.
Cited by (31)
Antemortem and Post-Mortem Characteristics of Lethal Mitral Valve Prolapse Among All Countywide Sudden Deaths
2021, JACC: Clinical ElectrophysiologyArrhythmic Mitral Valve Prolapse: JACC Review Topic of the Week
2018, Journal of the American College of CardiologyCitation Excerpt :However, of those “unexplained” cases, more than one-half were noted to have mitral valve prolapse at autopsy (11). This lack of classification may result in an underestimation of the true incidence of MVP-related SCD, especially when autopsy studies show that MVP remains one of the most common causes of death in otherwise healthy young patients where MVP is offered as a classification (4,12,13). A 21-year prospective clinical-pathological investigation in Italy (<35 years of age) found MVP to be the third most common cardiac condition associated with SCD with an incidence of 12%, with arrhythmogenic right ventricular dysplasia (24%) and atherosclerotic coronary artery disease (20%) being the only diagnoses that were more common (14).
Mitral valve prolapse and sudden cardiac arrest in the community
2016, Heart RhythmCitation Excerpt :Several studies indicate that a subset of patients may suffer adverse outcomes, with sudden cardiac arrest (SCA) potentially the most devastating of these. SCA has been described as one of the possible outcomes on follow-up in MVP,4,5 and several instances of SCA in young patients with MVP have been reported.6,7 In addition, the occurrence of ventricular arrhythmias on resting or ambulatory electrocardiograms is reported to be higher in patients with MVP,8,9 though some studies have challenged this finding.10
Malignant bileaflet mitral valve prolapse syndrome in patients with otherwise idiopathic out-of-hospital cardiac arrest
2013, Journal of the American College of CardiologySudden cardiac death in the young: The bogeyman
2015, Cardiology in the YoungArrhythmias in paediatric valvar disease
2014, Cardiology in the Young