Characteristics and Clinical Features of Mitral Annular Disjunction in the Pediatric Population

Mitral annular disjunction (MAD), a structural abnormality associated with mitral valve prolapse (MVP), is understudied in pediatric populations. This study aims to evaluate the clinical and laboratory characteristics of pediatric patients with MAD detected by transthoracic echocardiography (TTE).

This retrospective study included 27 patients (aged 5-17 years, median 13, 81% female) diagnosed with MAD via TTE between 2019 and 2024 at a pediatric cardiology clinic. In addition to the traditional parameters with TTE, the Pickelhaube sign was investigated with tissue Doppler imaging. Cardiac magnetic resonance imaging (CMR) and 24-h Holter electrocardiogram (ECG) monitoring were performed as further examinations. Data were reported as medians (range), means ± standard deviations and percentages.

All MAD patients included in the study had MVP and 74% had bi-leaflet disease. The median MAD distance measured by TTE was 6.8 mm (ranged 3.7-12.3 mm). The Pickelhaube sign was present in 48.1%. Posterobasal global longitudinal strain (GLS) was reduced (median -15%, range -5% to -25%). T wave inversion (defined as negative T-wave of ≥ 1 mm in depth in two or more contiguous leads) in the inferior leads (II, III and AVF) was observed at 14 patients (51.8%). Supraventricular tachycardia (SVT) was detected in four of 21 patients who underwent 24-h rhythm Holter monitoring. Late gadolinium enhancement consistent with focal fibrosis was present in 3 of 13 patients who underwent CMR (23%).

T wave inversion, SVT, fibrosis, and low GLS in pediatric MAD patients may represent prognostic indicators. Long-term follow-up is needed to clarify cardiac event risks. Early detection of congenital MAD remains important for longitudinal monitoring and pediatric arrhythmia management.