Echocardiographic findings in children with Marfan syndrome

Background

The typical cardiac manifestations of Marfan syndrome are aortic regurgitation with progressive dilatation of the aortic root, which may cause dissection and rupture of the ascending aorta, mitral valve prolapse and mitral valve regurgitation. In this study, we aimed to show echocardiographic findings in 11 patients with Marfan syndrome.

Methods

Diagnosis of Marfan syndrome was based on the Ghent criteria. All patients had a full echocardiographic evaluation. During the evaluation, we investigated the presence of mitral valve prolapse, mitral valve regurgitation, tricuspid valve prolapse, dilatation of the aortic root, and aortic regurgitation.

Results

Eleven patients were diagnosed as Marfan syndrome (seven male, four female, age 4–14 years). All had mitral valve prolapse (nine with mitral valve regurgitation). Among these 11 patients, seven had accompanying tricuspid valve prolapse, six had dilatation of the aortic root and two had aortic regurgitation.

Conclusion

Eleven patients in our clinic were diagnosed as Marfan syndrome since they had distinct characteristics of marfanoid phenotype. Echocardiographic evaluation of these patients showed marked heart valve involvement. In Marfan syndrome, it is known that the aortic valve is affected following mitral valve involvement. In our experience, aortic root dilatation is less common. However, particular attention should be given to following up aortic root status with non-invasive echocardiography to institute measures to prevent complications.     

A Common Color Flow Doppler Finding in the Mitral Regurgitation of Acute Rheumatic Fever

Between October 1986 and May 1991, 19 patients with acute rheumatic fever who were hospitalized in the Department of Pediatrics at Soroka Medical Center underwent echocardiographic color flow Doppler examination. Five patients had an echocardiographic picture of mitral valve prolapse, with or without leaflet thickening, and one had a flail anterior leaflet. Six had mitral valve thickening without prolapse, and seven patients had an echocardiographically normal appearing mitral valve. All 19 patients had a posterolaterally directed jet of mitral regurgitation demonstrated on color flow Doppler. All patients had echocardiographically normal aortic valves. However, mild aortic regurgitation was noted in eight of them. The posterolateral jet of mitral insufficiency in acute rheumatic fever may be the most common echo-Doppler finding in this condition. (ECHOCARDIOGRAPHY, Volume 8, November 1991)
Summary and Conclusions     

Echocardiographic and clinical correlations in infectious endocarditis of the left heart

The echocardiographic features were correlated with the clinical findings and outcome in 35 patients with aortic and/or mitral valve endocarditis. There were 26 males and 9 females with a mean age of 38 years. The infection involved native valves in 27 patients and prosthetic valves in 8 patients. Echocardiographically, fourteen patients had involvement of native aortic valve. All patients in this group required surgical intervention, nine patients during antimicrobial therapy. Congestive heart failure was the clinical indication for valvular replacement. A patient died immediately after surgery from low cardiac output syndrome. Six patients had echocardiographic evidence of aortic and mitral valves involvement. A patient in this group expired before surgery, five underwent surgery because of progressive heart failure (aortic or aortic and mitral valves replacement). Seven patients showed lesions on native mitral valve (6 in this group had prolapse syndrome). A patient died from cerebrovascular embolus, two underwent surgery because of persistent infection and embolic events, four were successfully treated with medical therapy. Among patients with prosthetic valve endocarditis, four showed signs of valvular dehiscence and required surgical intervention, during antimicrobial therapy, from congestive heart failure; one patient expired from recurrent infection. The pathological findings correlated well with echocardiographic findings. Conclusions: in IE the localization of lesions by echo has prognostic significance: most patients with aortic valve or aortic and mitral valves endocarditis require early surgical intervention because of congestive heart failure. On the contrary, mitral valve involvement carries a better prognosis, requiring less frequently valvular replacement; the patients with echocardiographic signs of prosthetic valve dehiscence require urgent intervention.(ABSTRACT TRUNCATED AT 250 WORDS)     

Two-dimensional and Doppler echocardiographic and pathologic characteristics of the infantile Marfan syndrome

Since the clinical, 2-dimensional and Doppler echocardiographic and pathologic findings in infantile Marfan syndrome have not been documented in detail, a study of 9 such infants was performed. The previously reported 64 cases were reviewed and the salient findings in 22 additional cases were discussed. The age at diagnosis in our 9 cases ranged from birth to 12 months (mean 2.7 months). Mitral valve prolapse was demonstrated in all, with mitral regurgitation in 8. Tricuspid valve prolapse was present in 8, with tricuspid regurgitation in 6. Marked aortic root dilatation was present in all, and was progressive. The aortic root assumed a "clover leaf" appearance in the parasternal short-axis view. Aortic regurgitation was documented initially in 1 patient, and developed during follow-up in 4 of 7 infants. Dilation of the pulmonary arterial root and pulmonary regurgitation were found in 3 of 7 infants. Severe heart failure associated with mitral or tricuspid regurgitation was present in 7 of the 9 patients. Four infants died during the first year of life. The salient pathologic features were myxomatous thickening and redundancy of the mitral and tricuspid leaflets, marked elongation of chordae tendineae and prominent dilatation of the aortic and pulmonary roots. Histologically, the collagen and elastic fibers were severely disrupted, disarrayed and fragmented with increased interstitial ground substance. These data document that infantile Marfan syndrome is characterized by clinical and morphologic features that are distinctly different from the classic syndrome seen in adolescents and adults. The aforementioned findings should facilitate early clinical and echocardiographic diagnosis of infantile Marfan syndrome.     

Flail mitral and tricuspid valves due to myxomatous disease.

Myxomatous disease generally affects mitral valve. However, tricuspid valves also can be involved in 20% of the myxomatous mitral valve disease. Valve prolapse, elongation of chordae and chordae rupture are generally seen complications of the myxomatous disease. There are some reports about severe tricuspid regurgitation due to tricuspid valve prolapse and elongated chordae, but no tricuspid and mitral chordae ruptures in the same patient due to myxomatous disease have been reported. In this case tricuspid chordae rupture accompanied to mitral chordae rupture is discussed.     

Combined aortic and mitral valve replacement in an adult with mucopolysaccharidosis (Maroteaux-Lamy syndrome)

Summary A 41-year-old man with aortic stenosis, mitral stenosis, and tricuspid regurgitation due to Maroteaux-Lamy syndrome underwent aortic and mitral valve replacement with tricuspid annuloplasty. The annular diameter of the aortic and mitral valves was extremely small. The valve prostheses were 19 mm in diameter in the aortic position and 25 mm in the mitral position. Histologically, the valves showed thickening and hyalinization of the collagen fibers, and the presence of foamy cells that contained a large quantity of pure acid mucopolysaccharide. On an echocardiographic examination performed 2 years after the surgery, the peak systolic gradient of the trans-aortic valve was 18 mmHg at rest, and 26 mmHg during exercise. Careful observation of the residual pressure gradient will be needed. The patient's present New York Heart Association (NYHA) status is grade I and he has returned to work.     

Pulsed Doppler echocardiographic evaluation of valvular regurgitation in patients with mitral valve prolapse: comparison with normal subjects

Pulsed Doppler echocardiography was used to determine prospectively the prevalence of mitral, aortic, tricuspid and pulmonary regurgitation in 80 consecutive patients with mitral valve prolapse and 85 normal subjects with similar age and sex distribution. Mitral valve prolapse was defined by posterior systolic displacement of the mitral valve on M-mode echocardiography of 3 mm or more (40 patients), the presence of one or more mid- or late systolic clicks (61 patients), or both. Mitral regurgitation, detected by pulsed Doppler techniques in 53 patients with prolapse, was holosystolic in 24, early to mid-systolic in 6, late systolic in 15 and both holosystolic and late systolic behind different portions of the valve in 8. Definitive M-mode findings were present in only 27 of the 53 patients, and only 21 had mitral regurgitation audible on physical examination. Tricuspid regurgitation was evident by pulsed Doppler echocardiography in 15 patients (holosystolic in 9, early to mid-systolic in 1, late systolic in 4 and both holosystolic and late systolic in 1); 12 of these 15 patients, including all with an isolated late systolic pattern, had an echocardiographic pattern of tricuspid prolapse, but none had audible tricuspid regurgitation. A Doppler pattern compatible with aortic regurgitation was recorded in seven patients, all without echocardiographic aortic valve prolapse and only two with audible aortic insufficiency. A Doppler shift in the right ventricular outflow tract in diastole, suggestive of pulmonary regurgitation, was recorded in 16 of the 78 patients with an adequate Doppler examination: only 1 of the 16 had audible pulmonary insufficiency. Of the 85 normal subjects without audible regurgitation, pulsed Doppler examination detected mitral regurgitation in 3 subjects (holosystolic in 1 and early to mid-systolic in 2), aortic regurgitation in none, tricuspid regurgitation in 9 (holosystolic alone in 8 and both holosystolic and late systolic in 1) and right ventricular outflow tract turbulence compatible with pulmonary insufficiency in 15. The prevalence of valvular regurgitation, detected by pulsed Doppler echocardiography, is high in patients with mitral valve prolapse. Regurgitation may involve any of the four cardiac valves and is clinically silent in the majority of patients. The prevalence rates of mitral and aortic regurgitation are significantly higher in patients with mitral prolapse than in normal subjects, suggesting that alterations in underlying valve structure in the prolapse syndrome may indeed be responsible for this regurgitation.(ABSTRACT TRUNCATED AT 400 WORDS)     

Doppler and echocardiographic features of normal and dysfunctioning bioprosthetic valves

Echocardiographic and Doppler studies were performed on 183 clinically normal and 58 severely dysfunctioning bioprosthetic mitral, aortic and tricuspid valves. The valve dysfunction resulted from spontaneous cusp degeneration in 49 instances and from paravalvular regurgitation in 9. The pulsed Doppler study demonstrated regurgitant flow in 36 (92%) of 39 regurgitant valves and 8 (90%) of 9 paravalvular regurgitant valves. Diagnostic echocardiographic features were present in only 51 and 10% of the patients, respectively. Although the Doppler regurgitant jet was peripheral in seven of the nine patients with paravalvular regurgitation, it was not possible to differentiate these patients from those who had valve degeneration and cusp tear at the periphery of the valve ring. Eight patients presented with a musical holosystolic murmur of mitral insufficiency. In all eight there was a characteristic honking intonation on the audio signal and a striated shuddering appearance on the video Doppler signal. Ten stenotic mitral bioprosthetic valves (less than or equal to 1.1 cm2 valve orifice) were identified by Doppler study. Diagnostic echocardiographic features were present in only two of these patients. The Doppler-derived valve orifice dimension correlated well (r = 0.83) with cardiac catheterization values. Fourteen asymptomatic or minimally symptomatic patients had echocardiographically thickened mitral cusps (greater than or equal to 3 mm). These patients had a significantly (p less than 0.0001) smaller valve area as compared with normal control valves, and during 4 to 24 months of follow-up, five of these patients developed severe valve regurgitation or stenosis. Doppler ultrasound is more sensitive than echocardiography in diagnosing bioprosthetic valve stenosis and regurgitation.(ABSTRACT TRUNCATED AT 250 WORDS)     

Prolapse of the "floppy" aortic valve as a cause of aortic regurgitation. A clinico-morphologic study

A clinico-pathologic study was performed in 25 patients undergoing aortic valve replacement because of regurgitation, caused by myxoid degeneration of the valve leaflets. Associated cardiac anomalies were floppy mitral valve (2 cases), floppy mitral valve and idiopathic hypertrophic subaortic stenosis (1), left atrial myxoma (1), and aortic coarctation at the isthmus (1). Three patients died (2 immediately and 1 on the 30th postoperative day). Pathological studies of the explanted valves showed deformities characterized by redundant thin leaflets which appeared soft and gelatinous. On histologic examination the fibrous layer of the leaflets was seen to be infiltrated by myxomatous tissue. Echocardiography showed the aortic root to be dilated in 13 patients and normal in the others. In those with normal aortic root, the histological examination of aortic wall disclosed minimal cystic medial necrosis in two cases. In contrast, more severe forms of cystic medial necrosis were evident in all patients having a dilated aortic root. Aortic valve replacement was performed in all cases. It was accompanied by a Bentall procedure (1 case), repair of ascending aorta dissection (2), replacement of the ascending aorta (1), mitral valve replacement (2), mitral valve replacement and apico-ascending aorta conduit (1) and excision of a left atrial myxoma (1). Our experience suggests that prolapse of the aortic valve due to floppy leaflets is a common degenerative disease which is generally associated with noninflammatory aortic root degeneration. This, together with aortic root dilatation, contributes to valve insufficiency. Nevertheless, the disease, when isolated (with normal aortic root), is liable in itself to produce aortic regurgitation. The need for early diagnosis is stressed, so as to be able to perform valve replacement.     

主动脉瓣四叶瓣畸形合并主动脉瓣病变的外科处理

目的 探讨主动脉瓣四叶瓣畸形对主动脉瓣功能的影响及其外科治疗.方法 2000年1月至2013年1月,我院通过经胸超声心动图和术中病理诊断主动脉瓣四叶瓣畸形13例.其中4例主动脉瓣的功能基本正常,9例合并主动脉瓣病变：重度关闭不全7例,重度关闭不全伴狭窄2例,合并二尖瓣中度关闭不全2例,三尖瓣中重度关闭不全1例.结果 13例患者中4例主动脉瓣功能正常者,继续随访中.9例合并主动脉瓣病变者,均行主动脉瓣置换术,同期行二尖瓣成形术2例、三尖瓣成形术1例.围术期无严重并发症及早期死亡,均康复出院.术后平均随访（6.34±5.17）年,心彩超提示主动脉瓣功能良好,无远期死亡.结论 主动脉瓣四叶瓣畸形是一种少见的先天性畸形,超声心动图有助于早期诊断.主动脉瓣功能正常时,可以随访;当合并主动脉瓣功能障碍时,应及时行主动脉瓣置换或修复,手术后可获得良好的远期效果.     

Comparison of Doppler echocardiography and cardiac catheterization in patients requiring valve surgery: search for a 'gold standard'.

OBJECTIVE: To compare the sensitivities of Doppler echocardiography and cardiac catheterization in the diagnosis of severe valvular heart disease in patients requiring valve surgery. DESIGN: Retrospective analysis of Doppler echocardiograms and cardiac catheterizations. SETTING: Tertiary referral cardiovascular centre in a university setting. PATIENTS: Sixty-nine patients undergoing valve surgery between July 1988 and July 1990. RESULTS: The sensitivities of echocardiography and cardiac catheterization were 84 and 87%, respectively (P = 1.0) in 32 patients who underwent aortic valve surgery primarily for severe aortic stenosis; 83 and 67%, respectively (P = 1.0) in six patients with severe aortic regurgitation, and 100 and 85%, respectively (P = 1.0) in seven patients with combined severe aortic stenosis and regurgitation. The sensitivities of echocardiography and cardiac catheterization in 11 patients who underwent mitral valve surgery for severe mitral stenosis were 73 and 91%, respectively (P = 0.6) and 69 and 92%, respectively (P = 0.3) in 13 patients with severe mitral regurgitation. Sensitivities of echocardiography and cardiac catheterization in the diagnosis of severe tricuspid regurgitation in five patients who had tricuspid valve repair were 100 and 80%, respectively (P = 1.0). Two patients with severe aortic stenosis by echocardiography, but not by catheterization, did not undergo aortic valve replacement during valvular surgery; both required aortic valve replacement within two years of initial surgery because of heart failure. Four patients with severe tricuspid regurgitation identified by echocardiography did not have tricuspid repair; three had pulmonary hypertension and these patients had resolution of tricuspid regurgitation on follow-up. One patient with severe tricuspid regurgitation and absence of pulmonary hypertension required reoperation for tricuspid valve repair 10 months after initial operation. CONCLUSIONS: The sensitivity of echocardiography and cardiac catheterization in the detection of severe valvular lesions requiring surgery is similar. Discordant results should be reviewed carefully with knowledge of the inherent pitfalls of both techniques in order to ensure optimal patient outcome.     

Contribution of echocardiography and immediate surgery to the management of severe aortic regurgitation from active infective endocarditis

The timing of surgery in patients with severe aortic regurgitation and left ventricular (LV) failure, particularly when associated with active infective endocarditis (IE), is of the utmost importance. From July 1982 to May 1984, 34 patients, aged 15 to 60 years, with severe aortic regurgitation underwent immediate (within 24 hours of diagnosis) aortic valve surgery. All patients were in New York Heart Association class IV for LV failure. Eighteen patients had right-sided heart failure. Decision for immediate surgery was based on the echocardiographic demonstration of diastolic closure of the mitral valve or of vegetations on the aortic valve. Premature closure of the mitral valve was demonstrated echocardiographically in 17 patients, 13 of whom had diastolic crossover of LV and left atrial pressure tracings recorded at surgery. IE of the aortic valve was confirmed at surgery in 29 patients, 27 of whom had vegetations on echocardiography. Seven patients required replacement of both aortic and mitral valves. Antibiotic therapy for IE was started immediately after blood cultures were taken and continued for 4 to 6 weeks postoperatively. The mortality rate within 30 days of surgery was 6% for the group as a whole and 7% for those with IE. Mean follow-up period for the 32 survivors was 10.6 months. There were 2 late deaths. No patient had periprosthetic regurgitation or persistence of endocarditis. Procrastination in referral for surgery of these extremely ill patients is not justified and is likely to be associated with higher risks of morbidity and mortality.     

Abnormal aortic valve echoes in mitral prolapse. Echocardiographic features of floppy aortic valve.

The following distinctive combination of M-mode and two dimensional echocardiographic abnormalities of the aortic valve was observed in a group of 12 patients, of whom 11 had mitral valve prolapse. On two dimensional scans, the aortic cusps were freely mobile but appeared thickened or folded. On M-mode records, cusp excursion was normal: there was well defined systolic oscillation, and cusp echoes were multiple and centrally positioned within the aortic root during diastole. The aortic valve was inspected at operation in two patients: a typically myxomatous valve was replaced in one and findings were in keeping with this diagnosis in the other. It is suggested that the echocardiographic features described are characteristic of the floppy aortic valve. Despite the echocardiographic abnormalities, only three patients had clinical evidence of an aortic valve lesion. It is, therefore, further suggested that the investigation of patients with mitral prolapse should include echocardiographic assessment of the aortic valve, even when associated myxomatous degeneration of that valve is not suspected clinically.     

Cardiovascular abnormalities associated with adult polycystic kidney disease

In a combined retrospective and prospective study, 11 patients with adult polycystic kidney disease were found to have one or more cardiac or aortic lesions. Seven patients had primary dilatation of the aortic root and annulus with aortic regurgitation. The severity of the aortic regurgitation necessitated aortic valve replacement in 2. Mitral regurgitation was present in 3 patients, of whom 2 had documented redundant mitral leaflets and ruptured chordae tendinae, and the third had mitral valve prolapse. Histologic analysis of available aortic and mitral valve tissue from these acquired lesions showed myxomatous degeneration with loss and disruption of collagen. Four patients had congenital bicuspid aortic valves with aortic regurgitation; 1 of these patients also had mild valvular stenosis, and 1 had coarctation of the aorta.     

Transesophageal echocardiography as predictor of mitral valve repair

BACKGROUND AND AIM OF THE STUDY: Mitral valve repair has recently emerged as the treatment of choice in patients presenting with insufficiency due to valve prolapse. The study aims were to evaluate: (i) the clinical presentation in a consecutive series of patients with mitral valve prolapse undergoing surgical repair; (ii) the correlation between pre- and intraoperative echocardiographic features and surgical findings in these patients; and (iii) whether clinical and echocardiographic data may predict surgical outcome. METHODS: Between March 1997 and May 2000, 152 patients (110 men, 42 women; mean age 59+/-13 years) were recruited into the study. All patients had myxomatous mitral valve disease causing severe regurgitation and underwent systematic examination by transesophageal echocardiography (TEE) for clear delineation of the three scallops of the posterior leaflet and juxtaposed segments of the anterior leaflet. RESULTS: In 119 patients (78%) a flail valve was documented by TEE and confirmed on surgical inspection; an anterior leaflet chordal rupture was not visualized by TEE in one case. In 15 cases (10%) there was flail of the anterior leaflet, and in 105 cases (69%) flail of the posterior leaflet. A bileaflet complex prolapse without chordal rupture was found in 32 cases. On the basis of TEE evaluation, mitral valve replacement was performed electively in 10 patients (7%); the other 142 (93%) underwent mitral valve repair. Adequate repair was obtained in 93% of cases; residual mitral regurgitation (eight cases; grade 3+) and mitral stenosis (one case) were documented by intraoperative TEE, and nine patients (6%) underwent valve replacement. CONCLUSION: The majority of patients with myxomatous mitral valve prolapse and severe regurgitation undergoing valve repair have chordal rupture of the posterior mitral leaflet, a condition in which results of valve repair are excellent. TEE provides a powerful means to define the mechanisms of mitral regurgitation and to identify the suitability of patients for valvuloplasty.     

Clinical and anatomic observations in patients having mitral valve replacement for mitral stenosis and simultaneous tricuspid valve replacement

Certain clinical and morphologic findings are described in 67 patients (aged 23 to 76 years [mean 52]; 55 women [82%]) who had mitral valve replacement for mitral stenosis (with or without associated regurgitation), and simultaneous tricuspid valve replacement for pure tricuspid regurgitation (58 patients) or tricuspid stenosis (all with associated regurgitation; 9 patients). Of the 58 patients with pure tricuspid regurgitation, 21 had anatomically normal and 37 had anatomically abnormal (diffusely fibrotic leaflets) tricuspid valves. Among these 58 patients, no clinical or hemodynamic variable was useful before surgery in distinguishing the group without from that with anatomically abnormal tricuspid valves. All 9 patients with stenotic tricuspid valves had anatomically abnormal tricuspid valves. The latter group had a lower average right ventricular systolic pressure (tricuspid valve closing pressure) than those with pure tricuspid regurgitation, and none had severe pulmonary arterial hypertension (present in 20 [30%] of the 58 patients with pure tricuspid regurgitation).     

Preoperative and postoperative mitral valve prolapse and regurgitation in adult patients with secundum atrial septal defects

Background: Little attention is given to development of mitral regurgitation (MR) in adults with atrial septal defect (ASD). The aim of the study was to determine the associated factors of MR in ASD adults before surgical repair and the fate of moderate to severe MR after surgery. Methods: We examined 71 consecutive patients with secundum ASD (47 ± 16 years) who underwent surgical repair. Clinical and echocardiographic variables including size of left and right heart systems and severity of MR and tricuspid regurgitation (TR) were investigated before and early after surgery. Results: Before ASD closure, 14 patients (20%) had moderate to severe MR and 25 patients (35%) showed mitral valve (MV) prolapse. The ASD patients with moderate to severe MR showed worse cardiovascular symptoms, increased occurrence of atrial fibrillation and MV prolapse, and greater left ventricular (LV) end‐diastolic volume, left atrial area, and TR severity than those with none to mild MR (all P < 0.05). Among preoperative variables, TR severity, left atrial area, LV end‐diastolic volume, and MV prolapse were associated with preoperative MR severity in all the patients (all P < 0.03). Isolated ASD closure (n=46) decreased MV prolapse (P=0.008). Preoperative moderate to severe MR decreased after ASD closure with and without MV surgery (n=9 and 5, respectively; both P < 0.05). Conclusions: Preoperative MR severity was associated with TR severity, dilated left heart chambers, and MV prolapse. MR decreased after ASD closure with and even without MV surgery.     

MitraClip used for severe mitral regurgitation after surgery for type A aortic dissection combined with Marfan syndrome

Mitral regurgitation is a rare but catastrophic condition in patients after surgery for type A aortic dissection. The second thoracotomy to complete the mitral valve operation could be fatal. Here, we report a case of severe mitral regurgitation treated with MitraClip in a 53-year-old woman after surgery for type A aortic dissection combined with Marfan syndrome. She was discharged uneventfully, and a significant reduction of regurgitation of mitral valve and tricuspid valve was observed at the 6-month follow-up. MitraClip could be an alternative device for such high-risk patients.     

Presence of a congenitally bicuspid aortic valve among patients having combined mitral and aortic valve replacement

Although bicuspid aortic valve occurs in an estimated 1% of adults and mitral valve prolapse in an estimated 5% of adults, occurrence of the 2 in the same patient is infrequent. During examination of operatively excised aortic and mitral valves because of dysfunction (stenosis and/or regurgitation), we encountered 16 patients who had congenitally bicuspid aortic valves associated with various types of dysfunctioning mitral valves. Eleven of the 16 patients had aortic stenosis (AS): 5 of them also had mitral stenosis, of rheumatic origin in 4 and secondary to mitral annular calcium in 1; the other 6 with aortic stenosis had pure mitral regurgitation (MR) secondary to mitral valve prolapse in 3, to ischemia in 2, and to unclear origin in 1. Of the 5 patients with pure aortic regurgitation, each also had pure mitral regurgitation: in 1 secondary to mitral valve prolapse and in 4 secondary to infective endocarditis. In conclusion, various types of mitral dysfunction severe enough to warrant mitral valve replacement occur in patients with bicuspid aortic valves. A proper search for mitral valve dysfunction in patients with bicuspid aortic valves appears warranted.     

Mitral valve dysfunction in the Marfan syndrome: Clinical and echocardiographic study of prevalence and natural history

Although mitral regurgitation and fibromyxomatous thickening of the mitral leaflets have long been recognized as such, mitral valve prolapse has only recently been added as one of the pleiotropic features of the Marfan syndrome, the prevalence, age of onset, and natural history of mitral valve dysfunction in this condition are uncertain. Therefore, all patients in one clinic who met strict diagnostic criteria for the Marfan syndrome and who had clinical and echocardiographic examinations before age 22 years were reviewed. Of the 166 patients (84 males, aged 11.9 ± 0.6 years [mean ± SEM]; and 82 females, 11.0 ± 0.6 years), 52 percent had auscultatory and 68 percent had echocardiographic evidence of mitral valve dysfunction, generally mitral valve prolapse. Prevalence did not differ between the sexes. Follow-up in 115 patients averaged five examinations over a mean of four years; 17 percent were followed for more than six years. Criteria for progression of mitral valve dysfunction were: (1) on auscultation, the appearance of new systolic clicks or apical systolic murmurs, a mitral regurgitant murmur increased by two grades, or appearance of congestive heart failure not due to aortic regurgitation; and (2) on echocardiography, the new appearance of mitral valve prolapse or abnormally increased left atrial dimension. Nearly half the patients met at least one criterion and one quarter had both auscultatory and echocardiographic evidence of progressive mitral valve dysfunction. Twice as many females demonstrated worse mitral valve function with time. Eight of the 166 patients either died as a result of mitral valve dysfunction or required mitral valve replacement. Severe mitral regurgitation developed in an additional 15 patients. Rupture of chordae tendineae was uncommon. Antibiotic prophylaxis was routine, and no cases of bacterial endocarditis of the mitral valve occurred. These results suggest that mitral valve dysfunction is extremely common in young patients with Marfan syndrome and usually presents as mitral valve prolapse. Serious mitral regurgitation develops in one of every eight patients by the third decade. Thus, the prevalence and natural history of mitral valve prolapse in the Marfan syndrome appear distinct from mitral valve prolapse associated with other conditions, including idiopathic or familial mitral valve prolapse.