Abstract:Jpn Circ J 1998; 62: 700 -703 Kenji Minakata, MD; Yutaka Konishi, MD; Masahiko Matsumoto, MD; Senri Miwa, MD Scheie's syndrome (mucopolysaccharidosis type I-S) is a rare genetic lysosomal storage disease affecting mucopolysaccharide metabolism, and is known to include cardiovascular disease. Surgical treatment was carried out in 2 patients with Scheie's syndrome. Patient 1 was a 56-year-old man with triple-vessel coronary artery disease, who successfully underwent coronary artery bypass grafting. Patient 2 … Show more
“…Due to pathological abnormalities in the native pulmonary root, the Ross procedure, where the aortic valve is replaced by the patient’s own pulmonary valve, is contraindicated in individuals with MPS (Barry et al 2006). Combined aortic and mitral valve replacement was successfully performed in adults (Butman et al 1989; Fischer et al 1999; Minakata et al 1998) and in teens as young as 12 years of age (Goksel et al 2009) with MPS I and in adults with MPS II (Joly et al 2004) and MPS VI (Hachida et al 1996; Tan et al 1992). Fesslová et al have reported favorable mitral and aortic valve replacement in three patients with Scheie syndrome and one with slowly progressing Hunter syndrome ranging in age from 13–53 years (Fesslová et al 2009).…”
Section: Management Of Cardiac Disease In Mpsmentioning
confidence: 99%
“…Fesslová et al have reported favorable mitral and aortic valve replacement in three patients with Scheie syndrome and one with slowly progressing Hunter syndrome ranging in age from 13–53 years (Fesslová et al 2009). Other successful cardiac procedures include coronary artery bypass surgery in a 56-year-old male with slowly progressing MPS I (Minakata et al 1998), closure of an outlet type of ventricular septal defect in a child with MPS III (Kourouklis et al 2007), and repair of ‘coarctation’ of the aorta after HSCT in a 3-year-old boy with rapidly progressing MPS I (Braunlin et al 2000). …”
Section: Management Of Cardiac Disease In Mpsmentioning
The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG deposited and the specific enzyme mutation(s) present. Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and VI. Cardiac valve thickening, dysfunction (more severe for left-sided than for right-sided valves), and hypertrophy are commonly present; conduction abnormalities, coronary artery and other vascular involvement may also occur. Cardiac disease emerges silently and contributes significantly to early mortality.The clinical examination of individuals with MPS is often difficult due to physical and, sometimes, intellectual patient limitations. The absence of precordial murmurs does not exclude the presence of cardiac disease. Echocardiography and electrocardiography are key diagnostic techniques for evaluation of valves, ventricular dimensions and function, which are recommended on a regular basis. The optimal technique for evaluation of coronary artery involvement remains unsettled.Standard medical and surgical techniques can be modified for MPS patients, and systemic therapies such as hematopoietic stem cell transplantation and enzyme replacement therapy (ERT) may alter overall disease progression with regression of ventricular hypertrophy and maintenance of ventricular function. Cardiac valve disease is usually unresponsive or, at best, stabilized, although ERT within the first few months of life may prevent valve involvement, a fact that emphasizes the importance of early diagnosis and treatment in MPS.
“…Due to pathological abnormalities in the native pulmonary root, the Ross procedure, where the aortic valve is replaced by the patient’s own pulmonary valve, is contraindicated in individuals with MPS (Barry et al 2006). Combined aortic and mitral valve replacement was successfully performed in adults (Butman et al 1989; Fischer et al 1999; Minakata et al 1998) and in teens as young as 12 years of age (Goksel et al 2009) with MPS I and in adults with MPS II (Joly et al 2004) and MPS VI (Hachida et al 1996; Tan et al 1992). Fesslová et al have reported favorable mitral and aortic valve replacement in three patients with Scheie syndrome and one with slowly progressing Hunter syndrome ranging in age from 13–53 years (Fesslová et al 2009).…”
Section: Management Of Cardiac Disease In Mpsmentioning
confidence: 99%
“…Fesslová et al have reported favorable mitral and aortic valve replacement in three patients with Scheie syndrome and one with slowly progressing Hunter syndrome ranging in age from 13–53 years (Fesslová et al 2009). Other successful cardiac procedures include coronary artery bypass surgery in a 56-year-old male with slowly progressing MPS I (Minakata et al 1998), closure of an outlet type of ventricular septal defect in a child with MPS III (Kourouklis et al 2007), and repair of ‘coarctation’ of the aorta after HSCT in a 3-year-old boy with rapidly progressing MPS I (Braunlin et al 2000). …”
Section: Management Of Cardiac Disease In Mpsmentioning
The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG deposited and the specific enzyme mutation(s) present. Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and VI. Cardiac valve thickening, dysfunction (more severe for left-sided than for right-sided valves), and hypertrophy are commonly present; conduction abnormalities, coronary artery and other vascular involvement may also occur. Cardiac disease emerges silently and contributes significantly to early mortality.The clinical examination of individuals with MPS is often difficult due to physical and, sometimes, intellectual patient limitations. The absence of precordial murmurs does not exclude the presence of cardiac disease. Echocardiography and electrocardiography are key diagnostic techniques for evaluation of valves, ventricular dimensions and function, which are recommended on a regular basis. The optimal technique for evaluation of coronary artery involvement remains unsettled.Standard medical and surgical techniques can be modified for MPS patients, and systemic therapies such as hematopoietic stem cell transplantation and enzyme replacement therapy (ERT) may alter overall disease progression with regression of ventricular hypertrophy and maintenance of ventricular function. Cardiac valve disease is usually unresponsive or, at best, stabilized, although ERT within the first few months of life may prevent valve involvement, a fact that emphasizes the importance of early diagnosis and treatment in MPS.
“…Myocardial infarction has been reported as a cause of death in treatment-naïve adults with MPS IV38 and within 2 years of beginning ERT in adults with MPS I and II 39 40. Coronary artery bypass surgery has been performed in a 55-year-old treatment-naïve man with Scheie syndrome 41. Standard coronary angiography may underestimate the severity of MPS coronary disease due to its diffuse nature.…”
The growing availability of innovative treatments for rare genetic diseases with a cardiac component-such as the mucopolysaccharidoses (MPSs)-has changed these syndromes from 'back of the textbook' curiosities of childhood to chronic, but rare, adult cardiac conditions that require both centres of expertise and knowledgeable subspecialists. The MPSs are inherited progressive lysosomal storage diseases, occurring in about 1:25 000 births and resulting from absence of functional hydrolases responsible for the degradation of glycosaminoglycans, naturally occurring complex sugars ubiquitous throughout the body. In the heart, accumulation of glycosaminoglycans occurs within the cardiac valves, the epicardial coronary arteries, the myocytes and cardiac interstitium and the walls of the great vessels. As a consequence, cardiac valve regurgitation and stenosis, diffuse coronary artery stenosis, myocardial dysfunction and aortic root dilation often occur. Haematopoietic cell transplantation and enzyme replacement therapy have changed the previously lethal natural history of the MPSs to one of survival well into adulthood. Despite this improved lifespan, the left-sided cardiac valves continue to show progressive functional involvement and cardiac valve replacement is not uncommon, especially in adults. The risk of any intervention is increased in these patients because of the systemic effects of the disease on the respiratory system and cervical cord. Our current understanding of other cardiac issues in adults with the MPSs, especially with the coronary circulation and myocardium, is meagre and more needs to be known to effectively care for this emerging population of adults. Incorporation of the MPSs, as well as other now-treatable rare diseases, into the educational curriculum of current and future adult subspecialists is an important next step.
“…Replacement of the cardiac valves can be challenging due to small size and rigidity of the annulus, as in our case. The tissue quality of the annulus can be poor, and use of pericardial patch reinforcement has been reported 5. Careful postoperative monitoring is essential due to diastolic dysfunction of the left ventricle.…”
Section: Discussionmentioning
confidence: 99%
“…Extracardiac problems relate to skeletal deformities including fused spine, short neck, macroglossia, adenoids, narrow airway due to abnormal proteoglycan deposition in the trachea, interstitial fibrosis of the lungs and restrictive lung function from chest wall rigidity. Through careful multidisciplinary preoperative planning, our patient underwent a fibreoptic intubation and subsequent planned open tracheostomy at the end of the valve operation,5 on top of steroids to prevent laryngeal oedema. Learning points
Cardiac involvement is common in mucopolysaccharoidosis.
Surgery is challenging due to small body size, abnormal anatomy and poor tissues, so a thorough preoperative assessment is essential.
Although high risk, valve replacement surgery can give good outcome in patients who are thought to have life-limiting valvular disease.
Hurler-Scheie syndrome is a rare lysosomal storage disease affecting the cardiovascular system. Besides the cardiac manifestations, it presents with complications from abnormal proteoglycan deposition in soft tissues in many locations, resulting in joint contractures, paraplegia, impaired vision, airway narrowing and restrictive lung function, to name a few. There are very few reports of surgical management of valvular heart disease due to mucopolysaccharidosis (MPS). We describe the successful management of a patient with an extremely challenging case of mitral valve stenosis and a giant left atrial appendage aneurysm due to MPS type 1 (Hurler-Scheie syndrome). The patient underwent mitral valve replacement and excision of the giant left atrial appendage aneurysm; a similar case has not been previously reported.
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