Interactive Cardiovascular and Thoracic Surgery 3:484-485(2004)
© 2004 European Association of Cardio-Thoracic Surgery
Two patients with Weill–Marchesani syndrome and mitral stenosis
Pieter C. van de Woestijnea,*,
A. Derk-Jan Ten Harkelb and
Ad J.J.C. Bogersa
a Department of Cardio-Thoracic Surgery, Erasmus MC, Dr Molenwaterplein 40, 3015 GD Rotterdam, The Netherlands
b Department of Pediatric Cardiology, Erasmus MC, Rotterdam, The Netherlands
* Corresponding author
p.vandewoestijne{at}erasmusmc.nl
Received November 6, 2003;
received in revised form March 2, 2004;
accepted April 7, 2004
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Abstract
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Recently we performed a mitral valve reconstruction in two young brothers with Weill–Marchesani syndrome and congenital mitral valve stenosis.
Key Words: Weill–Marchesani; Mitral stenosis; Congenital; Reconstruction
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1. Introduction
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Weill–Marchesani syndrome is a rare connective tissue disorder characterised by short stature, brachydactyly, joint stiffness, and characteristic eye anomalies including microspherophakia, ectopia of the lenses, severe myopia and glaucoma [1–3]. The inheritance is reported to be both autosomal dominant and autosomal recessive [4,5]. Cardiac abnormalities have been described, including pulmonary valve stenosis, aortic valve stenosis and mitral valve regurgitation [1,2]. We report here two cases of Weill–Marchesani syndrome and mitral valve stenosis.
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2. Case reports
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2.1. Case 1
A 6-month-old boy was referred to our hospital with progressive cyanosis. He was born at 41 weeks through a caesarean section because of foetal distress, but had a good start with adequate APGAR scores (9 and 10). On physical examination at that time no abnormalities were found except some enlargement of the head. His father had Weill–Marchesani syndrome with ocular abnormalities (severe myopia and lens luxation) and joint stiffness. He also had severe myopia, microphakia and the same characteristic features as his father corresponding to Weill–Marchesani syndrome (joint stiffness). Transthoracic echocardiography at time of presentation showed a severely dysplastic mitral valve with mitral valve stenosis with a mean velocity of 1.6 m/s (gradient 10 mmHg) and a mitral valve annulus diameter of 14 mm (Fig. 1). There was also severe tricuspid regurgitation because of pulmonary hypertension (peak velocity of 4.5 m/s, compatible with a RA–RV gradient of 81mmHg). There was a small persistent arterial duct with a right-to-left shunt, explaining the cyanosis.
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Fig. 1 Preoperative transthoracic echocardiography of case 1 at 6 months of age. LV, left ventricle; LA, left atrium; RV, right ventricle; RA, right atrium; Arrows indicate thickened mitral valve apparatus.
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Through median sternotomy, with the use of extracorporal circulation, mild hypothermia and cross-clamping of the aorta a mitral valve reconstruction was performed. The mitral valve, chordae and the papillary muscles were fibrotic. The posterior leaflet had three papillary muscles, which were attached to the ventricular wall. The reconstruction consisted of commissurotomy and splitting of chordae. A patent arterial duct was closed. Echocardiography immediately after surgery showed a nearly normal mitral valve inflow with a mean velocity of 1 m/s and grade I mitral regurgitation. His postoperative recovery was uncomplicated. He left the hospital 8 days after surgery. At echocardiographic control 3 months later his mitral valve mean velocity was increased to 2 m/s (16 mmHg), indicating recurrent mitral valve stenosis, mild mitral regurgitation and tricuspid valve regurgitation with a peak velocity of 3.7 m/s due to pulmonary hypertension. Clinically he was doing well at his last control 21 months postoperatively with furosemide/aldactone 1.5 mg/kg per day. On transthoracic echocardiography there was a mitral valve annulus diameter of 17 mm and mitral valve stenosis with a mean velocity of 1.6 m/s (10 mmHg) and moderate tricuspid regurgitation.
2.2. Case 2
His brother, presenting at 3 months of age, was also born through a caesarean section because of failure to progress with no engagement of the head. He had the same characteristic features as his brother and father corresponding to Weill–Marchesani syndrome including severe myopia, microphakia, and joint stiffness.
At the moment of first echocardiography he had no symptoms. However, his mitral valve was also dysplastic with a mean velocity of 2.4 m/s (gradient 23 mmHg) and tricuspid regurgitation with a velocity of 3.5 m/s. Six weeks after his first visit he had a cyanotic spell. He had feeding difficulties and impaired peripheral circulation.
At operation we found a fibrotic mitral valve and subvalvular apparatus. The postero-medial papillary muscle was attached to the ventricular wall. Using the same techniques as described earlier a commissurotomy of the thickened mitral valve was done and splitting of the chordal apparatus. Echocardiography immediately after surgery showed a mean mitral valve velocity of 1.2 m/s. Postoperative he needed inotropic support and nitric oxide ventilation for severe pulmonary hypertension. A urinary tract infection, fever and dehydration complicated his recovery. He left the hospital with oxygen support 15 days after surgery. At control 9 months after the operation he was doing well without oxygen. Echocardiography showed a mitral valve velocity of 0.7 m/s (2 mmHg), grade I mitral regurgitation and moderate tricuspid valve regurgitation. His mitral valve annulus diameter was 16 mm. His medication consisted of furosemide/spironolacton 2 mg/kg day and captopril 2 mg/kg per day.
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3. Discussion
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Cardiac abnormalities can occur in patients with Weill–Marchesani syndrome. Some reports suggest a connection between Weill–Marchesani and Marfan syndrome both as types of fibrillinopathies. Several genetic aberrations are mentioned [4,5]. Heart defects occur mostly in the recessive form [5]. In our report we described a family with Weill–Marchesani with a dominant form of inheritance. Two infant brothers presented with progressive severe mitral valve stenosis and pulmonary hypertension with a need for operation. At operation we found thickened mitral valve leaflets and chordal apparatus and mitral valve repair was done as described earlier. Directly postoperative there was nearly normal mitral valve inflow in both patients, however, in one case echocardiographic signs of mitral stenosis recurred at later controls. In this regard mitral valve replacement as initial operation was in our patients not an option because of small mitral valve annulus diameters (14 mm in both patients). Clinically, both brothers are doing well. Whether or not the Weill–Marchesani syndrome predisposes to ongoing degeneration of the mitral valve apparatus and thereby to recurrence of mitral stenosis is a matter of speculation. Our case report shows that Weill–Marchesani syndrome may be associated with mitral stenosis as well. After mitral valve surgery in this regard, mitral valve stenosis may be recurrent.
doi:10.1016/j.icvts.2004.04.004
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References
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Abstract
1. Introduction