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Ann Thorac Surg 1995;60:1439-1443
© 1995 The Society of Thoracic Surgeons
Divisions of Thoracic and Cardiovascular Surgery and Cardiology, University of New Mexico and New Mexico Regional Federal Medical Center, Albuquerque, New Mexico
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Abstract |
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Introduction |
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TopFootnotesAbstractIntroductionCase ReportCommentReferences |
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Case Report |
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Seventeen years later, he presented to our institution with a 1-year history of progressive decrease in exercise tolerance and occasional palpitations. His history was notable for multiple atraumatic fractures. His parents and siblings did not have the traits of OI, but he had two children with this diagnosis. He denied a history of rheumatic fever or drug abuse.
On physical examination, he was a man of short stature with blue sclerae and a triangular head. Auscultation revealed a diastolic 4/6 crescendo-decrescendo murmur at the sternal border. Other important findings included congenital absence of the left pectoralis muscle and conductive hearing deficit in both ears, suggestive of otosclerosis.
Results of serum chemistry analysis, coagulation studies, and hematologic counts were normal. Transesophageal echocardiography revealed severe aortic insufficiency with a bicuspid valve and prolapse of the anterior leaflet (Fig 1
). The left ventricle was moderately to severely dilated, with a mildly enlarged left atrium and an aortic root diameter of 4 cm. Tricuspid and mitral regurgitation were absent. Catheterization results confirmed these findings.
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Follow-up transesophageal echocardiography at 2 years demonstrated a normally functioning homograft with trivial AI and no evidence of progressive aortic dilatation. Pathologic examination of the aortic valve tissue showed no inflammation to suggest rheumatic fever or endocarditis. The fibrous connective tissue of the leaflets contained marked basophilic degeneration.
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Comment |
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TopFootnotesAbstractIntroductionCase ReportCommentReferences |
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Prevalence
Although the prevalences of Marfan's syndrome and OI are similar—1 case in every 60,000 people—valve disease is well recognized in Marfan's syndrome and infrequently observed in OI, and only a few cases have been severe enough to warrant valve repair or replacement. There has been only 1 reported case of successful coronary artery bypass accomplished in a patient with OI [3].
In support of the rarity of clinically important heart disease in these patients, a review of the records of 24 patients with OI at Henry Ford Hospital between 1939 and 1965 revealed only 1 case involving the heart [4]. Likewise, at New York Hospital between 1932 and 1966, a single valvular abnormality was found in 43 patients [5]. In McKusick's review of more than 100 patients with OI, 2 were found to have AI on clinical grounds [1]. Furthermore, valvular dysfunction without cardiac limitations was detected by clinical and echocardiographic examinations in 5 patients during a survey of 129 individuals with a nonlethal form of OI [6, 7]. In the pediatric population, 4 of 58 children were found to have congenital heart disease (aortic stenosis, atrial septal defect [2], tetralogy of Fallot [8]). Another infant with Ebstein's anomaly and OI died after three unsuccessful shunt procedures [9].
Clinical Presentation and Pathology
Although the clinical presentation, diagnosis, and indications for operation are similar to those for acquired valvular diseases of other causes, a few considerations are relevant. The severity of the skeletal manifestations does not correlate with the extent of cardiovascular involvement [10], and the progressive nature of the disease leads to delayed symptomatic presentation. The degree of cardiac involvement varies widely in individual cases, and the percentage requiring surgical correction is uncertain.
The cardiac pathologic process appears to be limited to the left-sided valves, with aortic insufficiency being the most common lesion and mitral regurgitation the second. Among the cases collected during this review, aneurysmal dilatation of the aortic annulus and root occurred most frequently, together with thinning and sagging of the valve leaflets. Five patients had a bicuspid valve, 2 had rupture or retraction of the valve cusps, and 1 each presented with dilatation of the ascending aorta and of the sinus of Valsalva. Conversely, typical gross pathologic findings in the mitral valve consisted of floppy, prolapsing leaflets with annular dilatation; 5 patients had elongated or ruptured chordae. In half, microscopic examination revealed cystic medial necrosis of the aortic wall and valve or myxoid degeneration of the mitral valve.
Treatment
When contemplating surgical procedures on OI patients, one should recognize the higher risk of complications due to the underlying connective tissue disorder [2]. Intrinsic tissue weakness and capillary fragility should be anticipated. Anesthetic considerations include intubation difficulties related to musculoskeletal deformities. Ventilatory impairment from kyphoscoliosis or limitations in ambulation may delay postoperative recovery.
An attempt at surgical correction of severe AI was first reported in 1965 by Criscitiello and colleagues [11], who excised the aortic cusps and sutured in place three Bahnson Teflon leaflets. Hemostasis was difficult to achieve, and the patient died 4 days after operation. Three years later, Jornod and co-workers [12] described aortic valvuloplasty for cusp perforation using a fascia lata autograft. The native tissue was noted to be fragile. Neurologic deterioration precipitated death on the second postoperative day. McKusick [1] and Siggers [13] independently described a patient with OI and AI who survived valve replacement in 1971 and had no recurrence of his diastolic murmur 1 year later. Since then, aortic valve replacement has been performed with moderate success using mechanical valves [14–19]. The prosthesis is often buttressed with mattress sutures and pledgets for fear of valvular dehiscence.
Successful mitral valve operation was first described in 1973, when 1 patient received a Starr ball valve and another underwent valvuloplasty [20]. In both cases, the tissues were noted to be fragile and hemostasis was a problem at closure. In a separate report from Melamed and associates [21], recurrence of congestive heart failure shortly after annuloplasty probably resulted from the underlying connective tissue disorder. As with aortic valves, successful mitral valve surgery has been attained with mechanical prostheses [22–25].
Double valve replacement in patients with OI initially resulted in early and late postoperative deaths [24, 26, 27]. One patient who required reexploration for bleeding was discharged without anticoagulation therapy and presented 9 months later with a cerebral embolus. He died 21 months after valve replacement of progressive cardiac failure. In another patient, a paravalvular leak developed 3 weeks after operation. An attempt at repair resulted in recurrence and death. Most recently, Bennett and colleagues [28] performed a double valve replacement with a Hancock pericardial prosthesis and reinforced the suture lines with Teflon felt pledgets. The patient's postoperative recovery was uneventful, and functional improvement was evident at up to 2 years.
The cases reviewed highlight important surgical considerations that are specific to OI patients (Table 1). One feature of the disorder is the friability and weakness of the tissues, which makes suture lines and secure seating of the valve in a myxomatous annulus a challenge. Dehiscence of the prosthesis is possible given the weakness of the connective tissue, and this potential complication must be kept in mind. In contrast, a review of homograft replacement for ``floppy valves'' in aortic and mitral positions has not found disruption of the suture line or migration of the prosthesis to be a problem [29]. Poor wound healing resulting in weak, wide scars is another undesirable trait of this generalized connective tissue disorder, where collagen fails to reach maturation [1].
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The ideal valve in this group of generally young patients susceptible to spontaneous skeletal bone fractures should be durable, with satisfactory hemodynamic qualities, and nonthrombogenic to eliminate the need for anticoagulation therapy. In this respect, both porcine and pericardial valves have been found to be prone to fatigue-induced leaflet tearing and calcification, whereas the lower incidence of late valve-related morbidity and mortality has resulted in the growing popularity of cryopreserved homograft valves. Although tissue failure remains the most common complication, and the rate of failure is higher in younger than in older patients, overall durability appears better than with the porcine prostheses.
Better than any type of valvular substitute is repair and reconstruction of the native valve, which continues to be the procedure of choice when feasible. In this review, however, of 4 patients undergoing valvuloplasty (2 aortic and 2 mitral), 2 (aortic) experienced bleeding requiring reexploration and died within several days. A third patient (mitral) had recurrence of symptoms shortly after surgical intervention and required aggressive medical management of congestive heart failure. Because these patients were operated on at the beginning of the modern era of valve repair, it is unclear whether these poor results are the consequence of developing techniques or of the peculiar nature of this collagen disorder, making repair and reconstruction unreliable in patients with OI. For the patients with mitral insufficiency, the pathologic findings gleaned from this collective series are almost identical to those observed in Marfan's syndrome and in myxomatous degeneration of the mitral valve; this argues in favor of the former hypothesis and can still support a more aggressive attitude toward repair.
Reconstruction of aortic valve diseases is being attempted with increasing frequency, but experience remains limited [35, 36]. Follow-up series involving aortic valve preservation have shown early reoperation as a result of technical failure and uncertain long-term outcome.
In conclusion, from the experiences summarized in this report, including the successful outcome of our case, valve replacement should be offered to the symptomatic patient with OI. For aortic insufficiency, cryopreserved homograft is an option that offers advantages over prosthetic valves. For mitral regurgitation, replacement is probably the most reliable strategy, although techniques of repair could theoretically perform as well as in myxomatous disease and may eventually become preferable.
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Footnotes |
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References |
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