Mitral valve prolapse syndrome as cause of sudden death in young adults

Abstract The Pickelhaube Sign is today recognized as a novel Echocardiographic Risk Marker for Malignant Mitral Valve Prolapse Syndrome. Mitral Valve Prolapse (MVP) has long been recognized to be a relatively common valve abnormality in the general population. Patients with relatively non-specific symptoms and asymptomatic athletes who have MVP still represent an important clinical conundrum for any physician involved in preventive medicine and sports screening. Although cardiac arrhythmias and/or cardiac death are an undesirable problem in MVP patients, when these subjects were studied with Holter Electrocardiogram (ECG) monitoring a prevalence of ventricular arrhythmias up to 34% was observed, with premature ventricular contractions as the most common pattern (66% of cases). At this regard a paper by Anders et al. described a series of cases that suggest that even clinically considered benign cases of MVP in young adults may cause sudden and unexpected death. However, cardiac arrest and Sudden Arrhythmic Cardiac Death (SCD) resulted in rare events only in patients with MVP based on data from a community study. A middle-aged athletic male who has been practicing competitive cycling for about 20 years came to our Sports Medicine Centre to undergo screening of sports preparation for competitive cycling and the related renewal of certification for participation in sports competitions. This athlete was always considered suitable in previous competitive fitness assessments performed in other sports medicine centers. His family history was unremarkable, as well as his recent and remote pathological anamnesis. The physical examination revealed a 3/6 regurgitation heart murmur with a click in the mid late systole. Previous echocardiographic examinations revealed a MVP which was considered benign with mild not relevant mitral regurgitation. He did not complain of symptoms such as dyspnoea or heart palpitations during physical activity. The resting ECG showed negative T waves in the inferior limb leads, and the stress test showed sporadic premature ventricular beats (a couple) with right bundle branch block morphology. An echocardiogram confirmed the presence of a classic mitral valve prolapse with billowing of both mitral leaflets, associated with a mild to moderate valve regurgitation. The TDI exam at the level of the lateral mitral annulus showed a high-velocity mid-systolic spike like a Pickelhaube sign, i.e. spiked German military helmet morphology. Consequently, an in-depth diagnostic imaging with cardiac magnetic resonance imaging was proposed, but the athlete refused it, both because he was totally asymptomatic and above all because he would be forced to pay a considerable amount of money as the examination is not guaranteed by the Italian National Health Service. In conclusion, the athlete remained sub judice as for competitive suitability, Finally, the question is: does MVP really cause sudden death? Is it enough to detect the Pickelhaube signal by echocardiography to stop this athlete? Let us bear in mind that this athlete was asymptomatic, and he had not had any trouble during exercise and maximal effort for many years. Why must we declare him unsuitable to do competitive sports?

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Cardiomyopathy in young adults with classic mitral valve prolapse

Cardiology in the Young ◽

10.1017/s1047951113001042 ◽

2013 ◽

Vol 24 (4) ◽

pp. 694-701 ◽

Cited By ~ 3

Author(s):

Eduard Malev ◽

Svetlana Reeva ◽

Lyubov Vasina ◽

Eugeny Timofeev ◽

Asiyet Pshepiy ◽

...

Keyword(s):

Young Adults ◽

Growth Factor ◽

Mitral Valve ◽

Left Ventricular Function ◽

Ventricular Function ◽

Mitral Valve Prolapse ◽

Transforming Growth Factor ◽

Transforming Growth Factor Β ◽

Left Ventricular ◽

Control Group

AbstractBackground: In some inherited connective tissue diseases with involvement of the cardiovascular system, for example, Marfan syndrome, early impairment of left ventricular function, which have been described as Marfan-related cardiomyopathy has been reported. Our aim was to evaluate the left ventricular function in young adults with mitral valve prolapse without significant mitral regurgitation using two-dimensional strain imaging and to determine the possible role of the transforming growth factor-β pathway in its deterioration. Methods: We studied 78 young adults with mitral valve prolapse without mitral regurgitation in comparison with 80 sex-matched and age-matched healthy individuals. Longitudinal strain and strain rates were defined using spackle tracking. Concentrations of transforming growth factor-β1 and β2 in serum were determined by enzyme-linked immunosorbent assays. Results: In 29 patients, classic relapse was identified with a leaflet thickness of ≥ 5 mm; 49 patients had a non-classic mitral valve prolapse. Despite the similar global systolic function, a significant reduction in global strain was found in the classic group (−15.5 ± 2.9%) compared with the non-classic group (−18.7 ± 3.8; p = 0.0002) and the control group (−19.6 ± 3.4%; p < 0.0001). In young adults with non-classic prolapse, a reduction in longitudinal deformation was detected only in septal segments. Transforming growth factor-β1 and β2 serum levels were elevated in patients with classic prolapse as compared with the control group and the non-classic mitral valve prolapse group. Conclusions: These changes in the deformations may be the first signs of deterioration of the left ventricular function and the existence of primary cardiomyopathy in young adults with mitral valve prolapse, which may be caused by increased transforming growth factor-β signalling.

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Sudden Death in Mitral Valve Prolapse

Journal of Forensic Sciences ◽

10.1520/jfs12439j ◽

1988 ◽

Vol 33 (1) ◽

pp. 12439J ◽

Cited By ~ 11

Author(s):

Diane M. Scala-Barnett ◽

Edmund R. Donoghue

Keyword(s):

Mitral Valve ◽

Sudden Death ◽

Mitral Valve Prolapse

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Mitral valve prolapse and sudden death: a systematic review

Heart Lung and Circulation ◽

10.1016/j.hlc.2015.06.163 ◽

2015 ◽

Vol 24 ◽

pp. S181

Author(s):

C. Nalliah ◽

R. Mahajan ◽

H. Haqqani ◽

D. Lau ◽

J. Vohra ◽

...

Keyword(s):

Systematic Review ◽

Mitral Valve ◽

Sudden Death ◽

Mitral Valve Prolapse

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Relation of sudden death in pure mitral regurgitation, with and without mitral valve prolapse, to repetitive ventricular arrhythmias and right and left ventricular ejection fractions

The American Journal of Cardiology ◽

10.1016/0002-9149(87)90261-x ◽

1987 ◽

Vol 60 (4) ◽

pp. 397-399 ◽

Cited By ~ 45

Author(s):

Paul Kligfield ◽

Clare Hochreiter ◽

Nathaniel Niles ◽

Richard B. Devereux ◽

Jeffrey S. Borer

Keyword(s):

Mitral Valve ◽

Sudden Death ◽

Mitral Regurgitation ◽

Mitral Valve Prolapse ◽

Ventricular Arrhythmias ◽

Left Ventricular ◽

Ventricular Ejection ◽

Left Ventricular Ejection

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PHENOTYPES OF MITRAL VALVE PROLAPSE AS A CAUSE OF SUDDEN DEATH: A CASE-CONTROL STUDY

Journal of the American College of Cardiology ◽

10.1016/s0735-1097(15)62022-8 ◽

2015 ◽

Vol 65 (10) ◽

pp. A2022

Author(s):

Jerome Hourdain ◽

Marie Annick Clavel ◽

Jean Claude Deharo ◽

Samuel Asirvatham ◽

Michael Ackerman ◽

...

Keyword(s):

Mitral Valve ◽

Sudden Death ◽

Mitral Valve Prolapse ◽

Case Control Study ◽

Case Control ◽

Control Study

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Mitral Valve Prolapse, Ventricular Arrhythmias, and Sudden Death

Circulation ◽

10.1161/circulationaha.118.034075 ◽

2019 ◽

Vol 140 (11) ◽

pp. 952-964 ◽

Cited By ~ 19

Author(s):

Cristina Basso ◽

Sabino Iliceto ◽

Gaetano Thiene ◽

Martina Perazzolo Marra

Keyword(s):

Cardiac Magnetic Resonance ◽

Magnetic Resonance ◽

Mitral Valve ◽

Sudden Death ◽

Mitral Valve Prolapse ◽

Ventricular Arrhythmias ◽

Left Ventricular ◽

Premature Ventricular Beats ◽

Electrophysiologic Studies

Despite a 2% to 3% prevalence of echocardiographically defined mitral valve prolapse (MVP) in the general population, the actual burden, risk stratification, and treatment of the so-called arrhythmic MVP are unknown. The clinical profile is characterized by a patient, usually female, with mostly bileaflet myxomatous disease, mid-systolic click, repolarization abnormalities in the inferior leads, and complex ventricular arrhythmias with polymorphic/right bundle branch block morphology, without significant regurgitation. Among the various pathophysiologic mechanisms of electrical instability, left ventricular fibrosis in the papillary muscles and inferobasal wall, mitral annulus disjunction, and systolic curling have been recently described by pathological and cardiac magnetic resonance studies in sudden death victims and patients with arrhythmic MVP. In addition, premature ventricular beats arising from the Purkinje tissue as ventricular fibrillation triggers have been documented by electrophysiologic studies in MVP patients with aborted sudden death. The genesis of malignant ventricular arrhythmias in MVP probably recognizes the combination of the substrate (regional myocardial hypertrophy and fibrosis, Purkinje fibers) and the trigger (mechanical stretch) eliciting premature ventricular beats because of a primary morphofunctional abnormality of the mitral valve annulus. The main clinical challenge is how to identify patients with arrhythmic MVP (which imaging technique and in which patient) and how to treat them to prevent sudden death. Thus, there is a necessity for prospective multicenter studies focusing on the prognostic role of cardiac magnetic resonance and electrophysiologic studies and on the therapeutic efficacy of targeted catheter ablation and mitral valve surgery in reducing the risk of life-threatening arrhythmias, as well as the role of implantable cardioverter defibrillators for primary prevention.

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