Mitral valve prolapse and annular disjunction: the benefit of early surgery

The clinical challenge of arrhythmogenic mitral valve prolapse

Mitral valve prolapse (MVP) is a common pathology, generally associated with a benign prognosis. However, a subgroup of patients presents a high risk of complex ventricular arrhythmias and sudden cardiac death (SCD). This study reports the case of a 71-year-old female patient presenting with recurrent syncope, complex ventricular ectopy, and a strong family history of sudden death, illustrating the complexity of identifying high-risk phenotypes within this population.

The objective of this report is to demonstrate the effectiveness of multimodal imaging — including 3D echocardiography and cardiac MRI — to characterize specific risk markers such as mitral annular disjunction (MAD), systolic curling, and the Pickelhaube sign. The study also documents the clinical impact of a combined therapeutic strategy associating minimally invasive mitral surgery and implantable cardioverter-defibrillator (ICD) implantation for primary prevention.

The authors test the hypothesis that early surgical correction of MVP associated with MAD can not only restore valvular function, but also induce reverse cardiac remodeling and a drastic reduction in arrhythmic load, even in the initial absence of myocardial fibrosis detectable by late gadolinium enhancement (LGE).

Methodology

This case report documents the diagnostic and therapeutic strategy applied to a 71-year-old female patient presenting a high-risk phenotype of mitral valve prolapse (MVP). The medical history reveals a critical family dimension, with the sudden death of the patient's father and brother around the age of 50.

The evaluation protocol is based on a multimodal imaging approach and rhythmic monitoring:

• Echocardiography: Transthoracic (TTE) and 3D transesophageal (TEE) examinations for morphological analysis of the leaflets (scallops A1-A3 and P1-P3) and measurement of the mitral annular disjunction (MAD).
• Functional analysis: Measurement of global longitudinal strain (GLS) by 2D speckle-tracking and detection of the Pickelhaube sign by tissue Doppler.
• Rhythmic monitoring: Use of a Holter-ECG to quantify the complex ventricular ectopy burden.
• Magnetic Resonance Imaging (MRI): Evaluation of myocardial fibrosis by searching for late gadolinium enhancement (LGE).
• Family screening: Screening ultrasounds performed on the patient's two daughters.

Key clinical parameters include a BNP level of 500 pg/mL, a MAD of 10 mm, a peak systolic velocity (Pickelhaube) of 21 cm/s and a mean GLS of -22.9% for the left ventricle.

Clinical characterization and phenotyping by multimodal imaging

The initial evaluation of this 71-year-old female patient, admitted for recurrent syncope, revealed specific electrocardiographic abnormalities, notably T-wave inversions in leads III and aVF, with a normal QTc interval. Cardiac biomarkers showed an elevation of B-type natriuretic peptide (BNP) at 500 pg/mL, while renal, hepatic, and thyroid functions were physiological.

Transthoracic and transoesophageal echocardiography revealed myxomatous degeneration with bivalve prolapse associated with severe mitral regurgitation. A systolic "curling" motion of the left ventricular posterolateral wall was identified, indicating increased mechanical strain. 3D imaging confirmed mitral annular enlargement and excess valvular tissue.

The 24-hour Holter monitoring documented complex ventricular ectopy, including episodes of non-sustained ventricular tachycardia. Cardiac MRI corroborated the MAD and prolapse measurements, while confirming the absence of focal myocardial fibrosis (negative LGE), suggesting a primarily mechanical or early electrical arrhythmogenic substrate.

Risk stratification, integrating family history of sudden death and imaging markers (MAD, Pickelhaube sign), led to a minimally invasive surgical management associated with the implantation of an automated cardioverter defibrillator (ICD) for primary prevention.

Discussion

This clinical case highlights the complexity of risk stratification in arrhythmogenic mitral valve prolapse (AMVP). The identification of this high-risk phenotype was based on a cluster of precise morphological indicators: a 10 mm mitral annular disjunction (MAD), bileaflet prolapse, and the Pickelhaube sign (systolic peak of 21 cm/s). A major clinical finding, the absence of myocardial fibrosis on MRI (negative LGE) did not prevent the occurrence of syncopal episodes and complex arrhythmias. This suggests that the mechanical stress exerted by the MAD and the "curling" motion of the posterolateral wall constitute a sufficient arrhythmogenic substrate, independently of any visible fibrous scar.

The therapeutic success observed here highlights the benefit of a combined management approach. Minimally invasive mitral repair surgery allowed for significant reverse cardiac remodeling, while ICD implantation ensured primary prevention of sudden death. Although the literature often associates rhythmic risk with the presence of fibrosis (LGE+), this study demonstrates that mechanical parameters and family history — marked here by two early deaths — must prevail in the clinical decision.

The main limitation of these results lies in the isolated nature of the observation (n=1). Although family screening revealed MAD in the patient's two daughters, confirming a probable genetic predisposition, the direct causal link remains to be established in larger cohorts. This case nevertheless confirms that close monitoring and multimodal imaging are essential to prevent fatal outcomes in patients who are otherwise hemodynamically asymptomatic.

In practical terms, for the practitioner:

• Screen for the malignant phenotype: Systematically integrate MAD measurement and the search for the Pickelhaube sign (tissue Doppler systolic peak > 16 cm/s) during echocardiography for any MVP, even without initial massive regurgitation.
• Evaluate beyond fibrosis: The absence of late gadolinium enhancement (LGE) on MRI does not exclude the risk of sudden death; arrhythmic burden and family history prevail in the decision for ICD implantation.
• Offer family screening: As MAD can be the sole marker of a genetic substrate, screening first-degree relatives is crucial, as illustrated by the identification of isolated MAD in the patient's two daughters.

The keys to diagnosing the arrhythmogenic mitral valve

Mitral Annular Disjunction (MAD): This is the physical disconnection — measured at 10 mm at the end of systole in this patient — between the insertion point of the mitral valve and the top of the ventricular myocardium. This separation creates a substrate of mechanical instability conducive to severe rhythm disorders.

Pickelhaube sign: A very sharp systolic velocity peak observed on tissue Doppler at the lateral mitral annulus. Reaching 21 cm/s in this case, this signal, evoking the spike of a Prussian helmet, is a crucial imaging biomarker for identifying malignant forms of prolapse.

Systolic Curling Motion: An abnormal curling motion of the posterolateral wall of the left ventricle. This dynamic phenomenon, resulting from excessive traction of the valvular apparatus on the myocardium, contributes to the genesis of complex ventricular arrhythmias.

Ventriculal Ectopic Burden: It represents the volume of extrasystoles over 24 hours. Fixed at 16% via Holter in this patient, such density, associated with episodes of non-sustained tachycardia, directly motivated the implantation of a defibrillator for primary prevention.

Global Longitudinal Strain (GLS): This 2D speckle-tracking imaging tool assesses fine myocardial deformation. While the average was normal here (-22.9%), the presence of a dispersion in contraction peaks suggests incipient structural remodeling despite a preserved ejection fraction.

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