Case reportPerioperative Implications of Morquio Syndrome in a 31-Year-Old Woman Undergoing Aortic Valve Replacement
Section snippets
Case Report
A 31-year-old, 48-kg, 147-cm (body surface area = 1.4 m2) woman with a history of Morquio syndrome presented to the authors' hospital for the evaluation of progressive exertional dyspnea and fatigue. The patient denied chest pain, orthopnea, paroxysmal nocturnal dyspnea, and peripheral edema but did describe facial and periorbital edema when rising from a recumbent position after sleep. She was initially diagnosed with Morquio syndrome at age 6 and had undergone bilateral hip surgery four years
Discussion
The primary cardiovascular complication of Morquio syndrome is abnormal deposition of keratin sulfate within the leaflets of the aortic and mitral valves that produces progressive valve thickening and dysfunction.8, 10 The mitral compared with aortic valve (66% v 27%, respectively) was more commonly affected in an echocardiographic study of 64 children with different forms of mucopolysaccharidosis.11 As observed in the current patient, aortic regurgitation is the most commonly observed valvular
References (21)
Chondro-osteo-dystrophyRoentgenographic and clinical features of a child with dislocation of vertebrae
Am J Surg
(1929)Anesthetic care for the child with Morquio syndrome: General versus regional anesthesia
J Clin Anesth
(1999)Sur une forme de dystrophie osseuse familiale
Arch Med Enfants
(1929)- et al.
Impaired degradation of keratin sulfate by Morquio A fibroblasts
Biochem J
(1982) - et al.
International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease
J Inherit Metab Dis
(2007) - et al.
Mucopolysaccharidosis IVA: Screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene
Hum Mol Genet
(1995) - et al.
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio syndrome)
Hum Mutat
(2005) - et al.
Mucopolysaccharidosis type IVA (Morquio syndrome): A clinical review
J Inherit Metab Dis
(1996) - et al.
Perioperative management of children with mucopolysaccharidoses
Anesth Analg
(1993) - et al.
Upper airways abnormalities and tracheal problems in Morquio's disease
Thorax
(2003)
Cited by (24)
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA
2018, Molecular Genetics and MetabolismCitation Excerpt :Cardiac complications include ventricular hypertrophy and early onset, severe valvular involvement as well as coronary intimal sclerosis [100]. Cases of cardiac valve thickening, regurgitation, and/or stenosis have been reported in patients [117–121]. In a case study in 1990, 10 patients with MPS IVA underwent echocardiographic assessment, and abnormalities were detected in 6 cases with mitral valve involvement in 5 patients and aortic valve disease in 4 [118].
Outcome of Combined Mitral and Aortic Valve Replacement in Adults With Mucopolysaccharidosis (the Hurler Syndrome)
2017, American Journal of CardiologyManagement of labor and delivery in a woman with Morquio syndrome
2015, International Journal of Obstetric AnesthesiaCitation Excerpt :Cervical spine fusions and hip osteotomies are frequently part of the surgical treatment. Patients with cardiac involvement are at risk of increased morbidity and early mortality due to deposition of keratin sulfate in the mitral and aortic leaflet causing regurgitation.4,5 Pulmonary function may be compromised due to restrictive lung disease and secondary airway hyperreactivity.6
Natural history of Morquio A disease
2014, Archives de PediatrieReview of clinical presentation and diagnosis of mucopolysaccharidosis IVA
2013, Molecular Genetics and MetabolismCitation Excerpt :Echocardiographic investigations have revealed moderate mitral and aortic regurgitation and valve thickening [62]. Valve replacement is necessary in rare cases, appearing to affect the aortic valve more frequently [63,64]; however, endocarditis prophylaxis may be required in some cases. Echocardiography should be repeated every 2 to 3 years, depending on initial findings.
Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient
2018, Cardiovascular PathologyCitation Excerpt :To support this interpretation, tachycardia in more severely affected patients likely represents a physiological reflex that maintains the cardiac output of the heart with impaired filling patterns [2]. Surgical replacement of the aortic valve was previously reported in 31- and 32-year-old MPS IVB patients with severe aortic regurgitation [8,9] and in a 41-year-old patient with severe aortic stenosis [10]. To the best of our knowledge, our report presents the oldest MPS IVB patient who benefited not only from an aortic valve replacement but also from a simultaneous septal myectomy.