Early and Easy Diagnosis of Marfan’s Syndrome in Children: Utility of AV Valve Prolapse at Primary Consultation

Objectives: Clinical diagnosis of Marfan’s syndrome (MFS) in children still faces difficulties because Ghent’s criteria often do not yet apply to children. We use the tricuspid and mitral valve prolapse (TVP and MVP) as a surrogate marker for the “hypermobile” heart in MFS patients and evaluate this as an early diagnostic tool.

Methods: In our pediatric Marfan’s clinic, we diagnosed MFS in 182 patients (9.3 &± 6 years). We retrospectively analyzed database data and 2D echocardiograms at the first two visits in our clinic ([Table 1]), evaluated the presence of TVP and MVP, and the genetic or clinical diagnosis of MFS according to Ghent’s criteria.

Result: In our cohort, 99 patients showed TVP (9.4 ± 5.8 years), 80 patients MVP (10.0 ± 5.6 years), and 46 both TVP and MVP (9.5 ± 5.5 years). The specificity was 88, 91, and 97%, leading to a positive predictive value (PPV) of diagnosing MFS of 73, 78, and 91%. The negative predictive value (NPV) for MFS without having TVP and MVP was 76%.

Table 1 Number of patients with TVP and MVP and diagnosis of MFS at first two visits

	MFS+ (n)	MFS&− (n)	Sensitivity (%)	Specificity (%)	PPV (%)	NPV (%)	p-Value
TVP+	73	26	46	88	73	70	<0.0001
TVP&−	83	199
MVP+	63	17	50	91	78	73	<0.0001
MVP&−	62	172
TVP+/MVP+	42	4	47	97	91	76	<0.0001
TVP&−/MVP-	47	153

Conclusion: The combination of a TVP and MVP in pediatric patients at the first two visits is significantly associated with the later diagnosis of MFS (specificity, 97%; PPV, 91%). The absence of TVP and MVP makes the diagnosis MFS unlikely (NPV, 76%). In conclusion the presence of a TVP and MVP can be used as an additional early diagnostic tool for MFS in children.