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Arrhythmic mitral valve prolapse: prevalence, characteristics, and high-risk features in children and adolescents

Published online by Cambridge University Press:  21 April 2026

Anna Lenarczyk ,
Filip Tyc Open the ORCID record for Filip Tyc [Opens in a new window] ,
Radosław Lenarczyk ,
Ewelina Tomasiczek - Santana ,
Agata Grochowina - Major  and
Roland Fiszer
Anna Lenarczyk
Affiliation:
Department of Pediatric Cardiology and Congenital Heart Diseases, Silesian Centre for Heart Disease, Poland
Filip Tyc*
Affiliation:
Department of Pediatric Cardiology and Congenital Heart Diseases, Faculty of Medical Sciences in Zabrze, Silesian Medical University, Katowice, Silesian Centre for Heart Disease, Poland
Radosław Lenarczyk
Affiliation:
Department of Cardiology and Electrotherapy, Faculty of Medical Sciences in Zabrze, Silesian Medical University, Katowice, Silesian Centre for Heart Disease, Poland
Ewelina Tomasiczek - Santana
Affiliation:
Department of Pediatric Cardiology and Congenital Heart Diseases, Silesian Centre for Heart Disease, Poland
Agata Grochowina - Major
Affiliation:
Department of Pediatric Cardiology and Congenital Heart Diseases, Silesian Centre for Heart Disease, Poland
Roland Fiszer
Affiliation:
Department of Pediatric Cardiology and Congenital Heart Diseases, Faculty of Medical Sciences in Zabrze, Silesian Medical University, Katowice, Silesian Centre for Heart Disease, Poland
*
Corresponding author: Filip Tyc; Email: filip.tyc@outlook.com
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Abstract

Introduction:

Arrhythmic mitral valve prolapse is a rare yet potentially fatal syndrome. Recently, high-risk markers for malignant arrhythmias have been identified in adults with mitral valve prolapse, and a risk stratification scheme has been proposed. Little is known about the prevalence of arrhythmic mitral valve prolapse, the characteristics of the syndrome, and risk markers in children and young adults.

Methods:

A database of a high-volume, tertiary congenital heart defects department was searched to identify all patients with MVP between 2018 and 2025 (8 years). Patients’ characteristics, including arrhythmic risk factors, AMVP diagnosis, and last survival, were noted.

Results:

Of 12,955 hospitalised patients, 52 were diagnosed with mitral valve prolapse (0.4%; median age 14y [IQR 6], 35% male). Arrhythmic mitral valve prolapse was diagnosed in 13 patients (25% of the mitral valve prolapse cohort). Phenotypic risk factors were highly prevalent (88.5%), but in the crosstab analysis, only an enlarged left atrium was associated with high-risk arrhythmic events (p = 0.0432). Furthermore, patients with arrhythmic events were significantly older (median 16y) than those without (median 13y; p = 0.019). One patient (2.7%, with concomitant LQTS2) presented with unstable ventricular tachycardia and received an ICD. During a median follow-up of 3 years (IQR 1–4.5), all 52 patients were alive.

Conclusions:

One in 250 patients admitted to a tertiary invasive paediatric cardiology department has mitral valve prolapse. Among those with mitral valve prolapse, 1 in 4 presents with arrhythmic mitral valve prolapse. Although risk factors are common, outcomes among young arrhythmic mitral valve prolapse patients appear good. Overlapping with primary electrical disease may flag a worse prognosis. Identification of new risk factors for children is warranted.

Keywords

arrhythmic mitral valve prolapsemitral valve prolapsepaediatricsventricular arrhythmia sudden cardiac death

Information

Type
Original Article
Information
Cardiology in the Young , Volume 36 , Issue 4 , April 2026 , pp. 695 - 698
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Creative Commons
Creative Common License - CCCreative Common License - BY
This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted re-use, distribution and reproduction, provided the original article is properly cited.
Copyright
© The Author(s), 2026. Published by Cambridge University Press

Introduction

Mitral valve prolapse is a rare syndrome (2–3% of the general population Reference Liu, Tsai and Lin1,Reference Theal, Sleik and Anand2 ) with a generally good prognosis; however, it can be fatal if it presents as arrhythmic mitral valve prolapse. The risk of sudden arrhythmic death in arrhythmic mitral valve prolapse is estimated at 0.2–0.4% per year, Reference Han, Ha and Teh3,Reference Iroulart, Blanco and Miceli4 yet it can reach 1.8% per year in high-risk subsets. Reference Grigioni, Enriquez-Sarano and Ling5 The prevalence of arrhythmic mitral valve prolapse and risk markers in children, adolescents, and young adults is less well known; nonetheless, among young victims of sudden arrhythmic death, mitral valve prolapse was found at autopsy in 4–7%. Reference Delling, Aung and Vittinghoff6,Reference Basso, Perazzolo Marra and Rizzo7 Recently, high-risk markers for malignant ventricular arrhythmias have been identified in adults with mitral valve prolapse, and a risk stratification scheme has been proposed. Reference Sabbag, Essayagh and Barrera8 However, the distribution and prognostic impact of such identified risk factors in the younger population remain unknown.

Materials and methods

Study group

This single-centre, retrospective study included all paediatric patients (<18 years) diagnosed with mitral valve prolapse at a tertiary paediatric cardiology and congenital heart disease centre between 2018 and 2025. The institutional electronic database was searched for discharges coded I34.1 (MVP) according to ICD-10, irrespective of admission diagnosis. Patients with complex congenital heart defects or confirmed cardiomyopathy with concomitant mitral valve prolapse were excluded.

Data collection

Demographic characteristics, clinical presentation, electrocardiographic, echocardiographic, and cardiac magnetic resonance imaging findings, as well as arrhythmic risk markers, were retrieved from electronic medical records. Arrhythmic events were identified from ECGs, 24–48 h Holter monitoring, implantable devices and inpatient telemetry. Follow-up data on survival were obtained from hospital records and direct contact (telephone or e-mail) with patients, families, and referring physicians.

Definitions

Mitral valve prolapse was defined by systolic leaflet displacement ≥2 mm beyond the annular plane in the parasternal long-axis view Reference Freed, Levy and Levine9,Reference Levine, Stathogiannis and Newell10 confirmed by an experienced paediatric echocardiographer. Arrhythmogenic mitral valve prolapse definition followed EHRA 2022 criteria: mitral valve prolapse associated with frequent and/or complex ventricular arrhythmias (premature ventricular complexes burden ≥5% or non-sustained [NSVT], or sustained ventricular tachycardia [VT], or ventricular fibrillation [VF]) in the absence of other defined arrhythmic substrates (ischaemia, structural scar, cardiomyopathy, or channelopathy). Reference Sabbag, Essayagh and Barrera8

Statistical analysis

Continuous variables are reported as median [interquartile range], categorical variables as counts and percentages. Normality of data distribution was assessed using the Shapiro–Wilk test. Quantitative data were compared using Mann–Whitney U. Categorical variables were compared using the Fisher’s exact test due to small sample sizes. A two-tailed p < 0.05 was considered statistically significant. Statistical analyses were performed using MedCalc (MedCalc Software, Ostend, Belgium) and Statistica 6.0 (StatSoft Inc., Tulsa, OK).

Results

Of the 12,955 patients hospitalised between 2018 and 2025 in a single tertiary centre, 52 had mitral valve prolapse (0.4%), median age at first hospitalisation 14y [IQR = 5], 35% male. Presenting symptoms included syncope in 13 pts (25%) and presyncope in 7pts (13.5%), none of the patients had a history of resuscitated sudden cardiac arrest. Positive family history of sudden cardiac death was present in 6 patients (11.5%).

In the study group, criteria of arrhythmic mitral valve prolapse were present in 13 patients (25%).

Among those patients, only 1 patient (with mitral valve prolapse and LQTS2 who underwent ICD implantation) presented with severe ventricular arrhythmia defined as ventricular tachycardia runs ≥180 bpm and/or history of sustained ventricular tachycardia/ventricular fibrillation.

Moderate ventricular arrhythmias (defined as the presence of slow sustained ventricular tachycardia (<180 bpm), polymorphic nsVT, and fast nsVT (>180/min)) were present in 5 patients (9.6%).

Mild ventricular arrhythmias (polymorphic, frequent (>5%) or complex premature ventricular complexes; slow nsVT (<180 bpm)) occurred in 12 patients (23.1%).

Implantable loop recorders were implanted in two cases due to unexplained syncope of suspected arrhythmic aetiology or the presence of high-risk factors. Only 1 patient, mentioned above, underwent ICD implantation due to haemodynamically unstable ventricular tachycardia. No patients were qualified for arrhythmic substrate ablation. Cardiac magnetic resonance has been performed in 22 patients (42.3%), out of which late gadolinium enhancement was present in 4 (18%). Overall, 46 (88.5%) patients had at least 1 phenotypic risk factor (Table 1).

Table 1.

Arrhythmic and phenotypic risk factors in study group. Data presented as n (%)

A table listing arrhythmic and phenotypic risk factors in a study group, showing the number and percentage of patients with each factor.
Table 1 Long description

The table presents arrhythmic and phenotypic risk factors in a study group, detailing the number and percentage of patients with each factor. It includes 13 arrhythmic risk factors and 46 phenotypic risk factors. The arrhythmic risk factors are divided into categories such as sustained VT, polymorphic nsVT, fast nsVT, syncopal VT, polymorphic PVCs, slow nsVT, and complex PVCs, with percentages ranging from 1.92% to 15.4%. The phenotypic risk factors include MAD, redundant MV leaflets, enlarged LA, LVEF less than 50%, LGE in CMR, and negative T-waves in inferior leads, with percentages ranging from 11.53% to 50%. The table has 13 rows for arrhythmic risk factors and 7 rows for phenotypic risk factors, totaling 20 rows and 2 columns.

VT = ventricular tachycardia; nsVT = non-sustained ventricular tachycardia; PVCs = premature ventricular contractions; MV = mitral valve; MAD = mitral annular disjunction; LA = left atrium (or left atrial); LVEF = left ventricular ejection fraction; LGE = late gadolinium enhancement; CMR = cardiovascular magnetic resonance.

After a median follow-up period of 3 years (IQR 1–4.5), all patients analysed in our study were alive, and none had an ICD intervention.

Despite the relatively small sample size, crosstab analyses were performed to assess the association between phenotypic risk factors and the occurrence of both high-risk and overall arrhythmic events (Table 2). In our analysis, only an enlarged left atrium correlated with a higher occurrence of high-risk arrhythmic events.

Table 2.

Impact of phenotypic risk factors on arrhythmic events. Data presents results of Fisher’s exact test

Table showing impact of phenotypic risk factors on arrhythmic events with statistical analysis.
Table 2 Long description

The table presents data on the impact of various phenotypic risk factors on arrhythmic events, including high-risk and overall arrhythmic events. It includes columns for the risk factor, outcome category, percentage with event (factor present), percentage with event (factor absent), and p-value. The table has eight rows for different risk factors and their respective outcomes. Notable findings include the correlation of an enlarged left atrium with a higher occurrence of high-risk arrhythmic events, as indicated by a significant p-value of 0.0432. Other risk factors such as LVEF less than or equal to 50, redundant MV leaflets, LQT, negative T-waves, MAD, and LGE in MRI are also analyzed, with varying p-values indicating their statistical significance.

LA = left atrium (or left atrial); AE = arrhythmic event; LVEF = left ventricular ejection fraction; MV = mitral valve; LQT = long QT syndrome; MAD = mitral annular disjunction; LGE = late gadolinium enhancement; MRI = magnetic resonance imaging.

Despite pretty frequent symptomatology, with syncope reported in 25% (13/52) of the study group, we were not able to show a statistically significant association between the presence of syncope and the occurrence of arrhythmic events (p = 0.7137). The event rate in the syncope group (30.8%, 4/13) was not significantly different from the rate in the non-syncope group (23.1%, 9/39).

No statistically significant age difference was found between patients with phenotypic risk factors (median 14 [IQR 5] years) and those without (median 11 [IQR 5] years; p = 0.1). In contrast, patients with documented arrhythmic events were significantly older, with a median age of 16 [IQR 2.5] years, compared to 13 [IQR 6.5] years for patients without events (p = 0.019) (Graph 1).

Graph 1.

Comparison of age in patients with and without arrhythmic events. Data presented as median age at time of hospitalisation, IQR as well as upper and lower adjacent values.

A box-and-whisker plot compares age in patients with and without arrhythmic events.
Graph 1 Long description

The box-and-whisker plot compares the age distribution in patients with and without arrhythmic events. The plot consists of two vertical box plots. The x-axis represents two categories: No Arrhythmic Events and Arrhythmic Events. The y-axis represents age, ranging from 0 to 18. For the No Arrhythmic Events category, the lower whisker extends to approximately 1, the lower quartile (Q1) is around 10, the median (Q2) is approximately 13, the upper quartile (Q3) is around 15, and the upper whisker extends to approximately 17. For the Arrhythmic Events category, the lower whisker extends to approximately 11, the lower quartile (Q1) is around 13, the median (Q2) is approximately 15, the upper quartile (Q3) is around 16, and the upper whisker extends to approximately 17. The plot shows that patients with arrhythmic events tend to be older than those without arrhythmic events. All values are approximated.

Discussion

This study provides a contemporary, single-centre snapshot of the prevalence, characteristics, and arrhythmic risk of mitral valve prolapse in a large tertiary paediatric cardiology cohort. The principal finding is the stark contrast between the high prevalence of “adult-derived” phenotypic risk factors in this young population (88.5%) and the very low incidence of high-risk arrhythmic events over a median two-year follow-up.

Mitral valve prolapse was widely considered a benign condition, Reference Freed, Levy and Levine9 however, recent and seminal studies, primarily in adult populations, have clearly identified the high-risk arrhythmic mitral valve prolapse phenotype. Reference Han, Ha and Teh3,Reference Iroulart, Blanco and Miceli4 This subset of patients, often with bileaflet prolapse, mitral annular disjunction, and myocardial fibrosis (Late gadolinium enhancement), carries a significant burden of malignant arrhythmias and sudden cardiac death. Reference Sabbag, Essayagh and Barrera8 Our data confirms that arrhythmic mitral valve prolapse is a relevant diagnosis in children, present in over a quarter of our mitral valve prolapse cohort (26.9%). However, the arrhythmic expression and short-term prognosis appear markedly different from those of adults.

This discrepancy leads to our central hypothesis regarding the nature of arrhythmic mitral valve prolapse. In our cohort, the presence of phenotypic risk factors (e.g., redundant leaflets, MAD) was not significantly associated with patient age (p = 0.1). In stark contrast, the occurrence of arrhythmic events was significantly more common in older patients (median 16 vs. 13 years; p = 0.019). This suggests that arrhythmic mitral valve prolapse may be an age-dependent and progressive entity with the most significant expression in early adulthood. Reference Han, Ha and Teh3 The “arrhythmic substrate”—the phenotypic and anatomical factors—is established early, but the “arrhythmic trigger” or manifest electrical instability may only develop after years or decades of haemodynamic and mechanical stress. This would explain the low event rates in our paediatric cohort compared to the higher rates seen in adult studies.

Our analysis of specific risk factors was limited by the small sample size (N = 52), which likely underpowered our ability to find significant associations for known risk factors. For example, mitral annular disjunction (present in 26 patients) and late gadolinium enhancement (present in 4 patients) showed no statistical correlation with arrhythmic events, which contrasts sharply with adult data, where they are powerful predictors. Reference Sabbag, Essayagh and Barrera8 However, we did find that an enlarged left atrium was the only factor significantly associated with high-risk arrhythmic events (p = 0.0432). This aligns with adult findings where LA size is a known marker of disease severity and arrhythmic risk, often reflecting the chronic haemodynamic consequence of mitral regurgitation or diastolic dysfunction.

A common clinical challenge, highlighted by our data, is the management of symptomatic patients. Syncope was reported in 25% of our cohort, yet we found no statistical link between syncope and documented arrhythmias (p = 0.714). This disconnect is a well-known dilemma. Given the potentially lethal, intermittent nature of these arrhythmias, our findings support the consideration of an implantable loop recorder for long-term monitoring in high-risk or highly symptomatic paediatric mitral valve prolapse patients, even if initial Holter monitoring is inconclusive.

The decision for primary prevention with an ICD in arrhythmic mitral valve prolapse is especially complex in children. Adult high-risk arrhythmic mitral valve prolapse cohorts report sudden death rates of 0.2–0.4% with subgroups as high as 1.8% per year. In our paediatric cohort, only one patient (who had a concomitant channelopathy) presented with high-risk ventricular tachycardia, and 100% survival was observed at follow-up. Given the significant lifelong burden of ICDs in young patients—including lead failure, inappropriate shocks, and psychological impact—our data strongly caution against the direct extrapolation of adult ICD indications to this population. This decision must be taken with great caution, likely reserved for only the highest-risk individuals, such as those with overlapping primary electrical disease or a confirmed, malignant arrhythmic phenotype.

As our understanding of the complex arrhythmic mitral valve prolapse substrate improves, so will our therapeutic options. The development of advanced, non-invasive mapping of infrequent, highly symptomatic arrhythmias (e.g., CardioInsight) and more precise ablation technologies, such as intracardiac echo-guided and pulsed-field ablation, may offer future targeted, substrate-based therapies for these patients.

Limitations

This study has several important limitations. First, its retrospective, single-centre design and small sample size (N = 52) limit the statistical power to detect associations. This is the most likely reason for the non-significant p-values for known risk factors like mitral annular disjunction and late gadolinium enhancement. Second, not all patients underwent cardiac magnetic resonance (42.3%), potentially leading to an underestimation of late gadolinium enhancement and mitral annular disjunction. Larger, multicentre, longitudinal studies are required to validate these preliminary findings and build a dedicated paediatric risk stratification model.

Conclusions

Mitral valve prolapse in children and young adults is a distinct entity. While adult-defined phenotypic risk factors are highly prevalent, the short-term arrhythmic event rate appears low. Our findings suggest arrhythmic mitral valve prolapse may be a progressive, age-dependent disease, warranting cautious clinical management and the development of paediatric-specific risk stratification models.

Financial support

This research received no specific grant from any funding agency, commercial or not-for-profit sectors.

Competing interests

None.

Footnotes

Preliminary findings of this study have been accepted and were presented at the 57th Annual Meeting of the Association for European Paediatric and Congenital Cardiology, which took place from 8 to 11 May 2024 in Porto, Portugal.

We kindly request shared first authorship for Anna Lenarczyk and Filip Tyc as these authors contributed equally to this work.

References

Liu, P-Y, Tsai, K-Z, Lin, Y-P, et al. Prevalence and characteristics of mitral valve prolapse in military young adults in Taiwan of the CHIEF heart study. Sci Rep 2021; 11: 2719. DOI: 10.1038/s41598-021-81648-z.CrossRefGoogle ScholarPubMed
Theal, M, Sleik, K, Anand, S, et al. Prevalence of mitral valve prolapse in ethnic groups. Can J Cardiol 2004; 20: 511–515.Google ScholarPubMed
Han, H-C, Ha, FJ, Teh, AW, et al. Mitral valve prolapse and sudden cardiac death: a systematic review. J Am Heart Assoc 2018; 7: e010584. DOI: 10.1161/JAHA.118.010584.CrossRefGoogle ScholarPubMed
Iroulart, JM, Blanco, R, Miceli, AL, et al. Arrhythmic mitral valve prolapse: in which patients should primary prevention of sudden cardiac death be considered and how should it be implemented? Curr Probl Cardiol 2025; 50: 103083. DOI: 10.1016/j.cpcardiol.2025.103083.CrossRefGoogle ScholarPubMed
Grigioni, F, Enriquez-Sarano, M, Ling, LH, et al. Sudden death in mitral regurgitation due to flail leaflet. J Am Coll Cardiol 1999; 34: 2078–2085. DOI: 10.1016/s0735-1097(99)00474-x.CrossRefGoogle ScholarPubMed
Delling, FN, Aung, S, Vittinghoff, E, et al. Antemortem and post-mortem characteristics of lethal mitral valve prolapse among all countywide sudden deaths. JACC Clin Electrophysiol 2021; 7: 1025–1034. DOI: 10.1016/j.jacep.2021.01.007.CrossRefGoogle ScholarPubMed
Basso, C, Perazzolo Marra, M, Rizzo, S, et al. Arrhythmic mitral valve prolapse and sudden cardiac death. Circulation 2015; 132: 556–566. DOI: 10.1161/CIRCULATIONAHA.115.016291.CrossRefGoogle ScholarPubMed
Sabbag, A, Essayagh, B, Barrera, JDR, et al. EHRA expert consensus statement on arrhythmic mitral valve prolapse and mitral annular disjunction complex in collaboration with the ESC Council on valvular heart disease and the European Association of Cardiovascular Imaging endorsed cby the Heart Rhythm Society, by the Asia Pacific Heart Rhythm Society, and by the Latin American Heart Rhythm Society. Europace 2022; 24: 1981–2003. DOI: 10.1093/europace/euac125.CrossRefGoogle Scholar
Freed, LA, Levy, D, Levine, RA, et al. Prevalence and clinical outcome of mitral-valve prolapse. N Engl J Med 1999; 341: 1–7. DOI: 10.1056/NEJM199907013410101.CrossRefGoogle ScholarPubMed
Levine, RA, Stathogiannis, E, Newell, JB, et al. Reconsideration of echocardiographic standards for mitral valve prolapse: lack of association between leaflet displacement isolated to the apical four chamber view and independent echocardiographic evidence of abnormality. J Am Coll Cardiol 1988; 11: 1010–1019. DOI: 10.1016/s0735-1097(98)90059-6.CrossRefGoogle Scholar
Figure 0

Table 1. Arrhythmic and phenotypic risk factors in study group. Data presented as n (%)Table 1 long description.

Figure 1

Table 2. Impact of phenotypic risk factors on arrhythmic events. Data presents results of Fisher’s exact testTable 2 long description.

Figure 2

Graph 1. Graph 1 long description.Comparison of age in patients with and without arrhythmic events. Data presented as median age at time of hospitalisation, IQR as well as upper and lower adjacent values.