Isolated Cleft of the Posterior Mitral Valve Leaflet in a Patient with Marfan Phenotype

Abstract

Isolated cleft of the mitral valve is a very uncommon congenital cause of mitral regurgitation. Most of the clefts involve the anterior leaflet while isolated clefts of the posterior leaflet have been anecdotally reported. We present a child with a Marfan phenotype with mitral incompetence due to a midline (P2) cleft in the posterior mitral leaflet. Marfan syndrome frequently involves the mitral valve causing mitral valve prolapse. Occurrence of a posterior cleft may be an extension of its mitral valve involvement. *Corresponding author: A. Benatar, Pediatric cardiology, UZ Brussel, 101 Laarbeeklaan, 1090 Brussels, Belgium, Tel: 00322-4775763; Fax: 00322-4775773; E-mail: Abraham.benatar@uzbrussel.be Received November 17, 2011; Accepted December 13, 2011; Published December 21, 2011 Citation: Benatar A, Dewals W, Decraene T (2012) Isolated Cleft of the Posterior Mitral Valve Leaflet in a Patient with Marfan Phenotype. J Clinic Case Reports 2:103. doi:10.4172/2165-7920.1000103 Copyright: © 2012 Benatar A, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Introduction Cleft mitral valve leaflet is an uncommon congenital cause of mitral regurgitation. Clefts are slit-like holes or defects of the leaflet, hypothesized to be a result of incomplete expression of an endocardial cushion defect which most commonly involves the anterior mitral valve leaflet. The pediatric incidence is estimated at 1:1340 [1,2]. Clefts affecting only the posterior mitral valve leaflet are extremely rare with only few cases reported in the medical literature. The important coexisting anomalies with either anterior or posterior cleft mitral valve leaflet include counterclockwise rotation of the papillary muscles, the presence of an accessory papillary muscle or mitral valve leaflet, and mitral valve prolapse. We report a girl with Marfan phenotype associated with an isolated midline cleft of the posterior mitral leaflet, a combination only once previously reported [3]. Case Report A 10 year old girl was referred for evaluation of a cardiac murmur. She had seen an ophthalmologist who diagnosed bilateral ectopia lentis. She was asymptomatic from a cardiac standpoint. There was no family history of Marfan syndrome or tall stature. Clinical examination revealed a girl with a length of 160 cm, arm span of 162 cm, weight 40 kg. She had evident arachnodactyli, bilateral supero-temporal ectopia lentis, and shorter trunk than lower limbs. Cardiovascular examination revealed normal pulses, blood pressure and jugular venous pressure. The apex was not displaced. Auscultation revealed an apical grade 3 over 6 high frequency holosystolic systolic murmur irradiating to the axilla. Heart sounds were normal, no third heart sound. Rest of the examination was normal. The electrocardiogram showed sinus rhythm, normal PR interval and normal frontal QRS axis of 72°. No left ventricular hypertrophy or ST segment T wave changes. Transthoracic echocardiographic examination revealed a situs solitus, laevocardia and concordant atrio-ventricular and ventriculoarterial connections. There was mild to moderate mitral regurgitation (grade 2 over 4) with normal left ventricular dimensions and systolic function as evidenced by normal shortening fraction, ejection fraction and mitral incompetence jet DP/dt of 864.2 mm Hg/second (Figure 1E). There was billowing of both the anterior and posterior mitral leaflets in the parasternal long axis image (Figure 1A and D). From the parasternal short axis images a cleft in the middle of the posterior leaflet (P2) was identified (Figure 1B and C).The posterior leaflet was bisected by the midline cleft in two equal parts giving the mitral valve appearance of a trileaflet structure. The cleft masqueraded as a third commissure between the bisected posterior leaflets (Figure 1F and G). Color Doppler examination revealed a single jet of mitral regurgitation arising from the midline cleft extending postero-superiorly (Figure 1D). Three dimensional reconstruction of the image confirmed the posterior cleft leaflet at P2 segment (Carpentier classification). The number and location of the papillary muscles and chordal structures were normal. There was no dilatation of the aortic root or the ascending aorta (Z score for aortic annulus and sinus of Valsalva was respectively 0.1 and 0.3). There were no other cardiac anomalies known to accompany a mitral cleft such as an atrioventricular septal defect. Genetic analysis was performed in particular for the FBN1 gene (Marfan syndrome) and the genes encoding transforming growth Figure 1a: Apical four chamber view showing a mild eccentric mitral regurgitant jet through the posterior mitral leaflet. Citation: Benatar A, Dewals W, Decraene T (2012) Isolated Cleft of the Posterior Mitral Valve Leaflet in a Patient with Marfan Phenotype. J Clinic Case Reports 2:103. doi:10.4172/2165-7920.1000103