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Metabolic Cardiomyopathy of Childhood

  • Enid Gilbert-Barness

Abstract

The cardiomyopathies are a group of disorders characterized by an intrinsic decrease in myocardial contractility. As long as stroke volume is maintained, congestive heart failure does not occur. However, when stroke volume falls, congestive heart failure ensues.1,2

Keywords

Osteogenesis Imperfecta Fabry Disease Gauche Disease Marfan Syndrome Glycogen Storage Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Brandenburg RO, Chazov E, Cherian G, et al: Report of the WHO/ISFC task force on definition and classification of cardiomyopathies. Circulation 64:437A, 1981.CrossRefGoogle Scholar
  2. 2.
    Goodwin JF: Prospects and predictions for the cardiomyopathies. Circulation 50:210, 1974.PubMedGoogle Scholar
  3. 3.
    Hastreiter AR, Fisher EA: Endocardial fibroelastosis. In Moss AJ, Adams FH, Emmanouilides GC (eds): Heart Disease in Infants, Children and Adolescents. Baltimore: Williams and Williams, 1977, pp 496–505.Google Scholar
  4. 4.
    Greenwood RD, Nadas AS, Fyler DC: The clinical course of primary myocardial disease in infants and children. Am Heart J 92:549, 1976.PubMedCrossRefGoogle Scholar
  5. 5.
    Galdston M, Steele JM, Dobriner K: Alcaptonuria and ochronosis. With a report of three patients and metabolic studies in two. Am J Med 13:432, 1952.PubMedCrossRefGoogle Scholar
  6. 6.
    O’Brien WM, LaDu BN, Bunim JJ: Biochemical, pathologic, and clinical aspects of alcaptonuria, ochronosis and ochronotic arthropathy. Am J Med 34:813, 1963.CrossRefGoogle Scholar
  7. 7.
    Abreo K, Oberley TD, Gilbert EF, Opitz JM, Updike J: Clinicopathological conference: A 29-year-old man with recurrent episodes of fever, abdominal pain, and vomiting. Am J Genet 18:264, 1984.CrossRefGoogle Scholar
  8. 8.
    Gilbert EF: The effects of metabolic diseases on the cardiovascular system. Am J Cardiovasc Pathol 1:189, 1987.PubMedGoogle Scholar
  9. 9.
    Ferrans VJ, Boyce SW: Metabolic and familial diseases. In Silver MD (ed): Cardiovascular Pathology. New York: Churchill Livingstone, 1983, pp 945–1004.Google Scholar
  10. 10.
    Chaplin AJ: Histopathological occurrence and characterization of calcium oxalate: A review. J Clin Pathol 30:800, 1977.PubMedCrossRefGoogle Scholar
  11. 11.
    Beil E, Seibel K, Riecker G: Herzerkrankug bei primarer Oxalose. Klin Wochenschr 47:513, 1969.PubMedCrossRefGoogle Scholar
  12. 12.
    Coltart DJ, Hudson REB: Primary oxalosis of the heart: A cause of heart block. Br Heart J 33:315, 1971.PubMedCrossRefGoogle Scholar
  13. 13.
    Tonkin AM, Mond HG, Mathew TH, Solman JG: Primary oxalosis with myocardial involvement and heart block. Med J Aust 1:873, 1976.PubMedGoogle Scholar
  14. 14.
    West RR, Salyer WR, Hutchins GM: Adult-onset primary oxalosis with complete heart block. Johns Hopkins Med J 133:195, 1973.PubMedGoogle Scholar
  15. 15.
    Blackburn WE, McRoberts JW, Bhathena D, Vazquez M, Luke RG: Severe vascular complications in oxalosis after bilateral nephrectomy. Ann Intern Med 82:44, 1975.PubMedGoogle Scholar
  16. 16.
    Fayemi AO, Ali M, Braun EV: Oxalosis in hemodialysis patients. A pathologic study of 80 cases. Arch Pathol Lab Med 103:58, 1979.PubMedGoogle Scholar
  17. 17.
    Hahlweg G, Orf G: Sog fibroplastische myocarditis bei oxalose. Pathol Microbiol 29:1, 1966.Google Scholar
  18. 18.
    Henry CG, Strauss AW, Keating JP, et al: Congestive cardiomyopathy associated with β-ketothiolase deficiency. J Pediatr 99:754–757, 1981.PubMedCrossRefGoogle Scholar
  19. 19.
    Ehlers KH, Hagstrom JWC, Lukas DS, Redo SF, Engle MA: Glycogen-storage disease of the myocardium with obstruction to left ventricular outflow. Circulation 25:96, 1962.PubMedGoogle Scholar
  20. 20.
    Rees A, Eibl F, Minhas K, Solinger R: Echocardiographic evidence of outflow tract obstruction in Pompe’s disease (glycogen storage disease of the heart). Am J Cardiol 37:1103, 1976.PubMedCrossRefGoogle Scholar
  21. 21.
    Bordiuk JM, Legato MJ, Lovelace RE, Blumenthal S: Pompe’s disease. Electromyographic, electron microscopic and cardiovascular aspects. Arch Neurol 23:113, 1970.PubMedGoogle Scholar
  22. 22.
    Hohn AR, Lowe CU, Sokal JE, Lambert EC: Cardiac problems in the glycogenoses with specific reference to Pompe’s disease. Pediatrics 35:313, 1965.PubMedGoogle Scholar
  23. 23.
    Dincsoy MY, Dincsoy HP, Kessler AD, Jackson MA, Sidbury JB Jr: Generalized glycogenosis and associated endocardial fibroelastosis. Report of 3 cases with biochemical studies. J Pediatr 67:728, 1965.PubMedCrossRefGoogle Scholar
  24. 24.
    Hers HG, De Barsy T: Type II glycogenosis (acid maltase deficiency). In Hers HG, Van Hoff F (eds): Lysosomes and Storage Disorders. New York: Academic Press, 1973,p 197.Google Scholar
  25. 25.
    Engel AG, Gomez MR, Seybold ME, Lambert EH: The spectrum and diagnosis of acid maltase deficiency. Neurology (Minneapolis) 23:95, 1973.Google Scholar
  26. 26.
    Caddell JL, Whittemore R: Observations on generalized glycogenosis with emphasis on electrocardiographic changes. Pediatrics 29:743, 1962.PubMedGoogle Scholar
  27. 27.
    Garancis JC: Type II% glycogenosis. Biochemical and electron microscopic study. Am J Med 44:289, 1968.PubMedCrossRefGoogle Scholar
  28. 28.
    Ehlers KH, Hagstrom JWC, Lukas DS, Redo SF, Engle MA: Glycogen-storage disease of the myocardium with obstruction to left ventricular outflow. Circulation 25:96, 1962.PubMedGoogle Scholar
  29. 29.
    Besley GTN. Phosphorylase β kinase deficiency in glycogenosis type VIII: differentiation of different phenotypes and heterozygotes by erthrocyte enzyme assay. J Inherited Metab Dis 10:115–118, 1987.PubMedCrossRefGoogle Scholar
  30. 30.
    Mizuta K, Kashimoto E, Tsutou A, et al: A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase. Biochem Biophys Res Commun 119:582–587, 1984.PubMedCrossRefGoogle Scholar
  31. 31.
    Servidei S, Metlay LA, Chodosh J, DiMauro S: Fatal infantile cardiomyopathy caused by phosphorylase β kinase deficiency. J Pediatr 113:82–85, 1988.PubMedCrossRefGoogle Scholar
  32. 32.
    Goldfischer S, Coltoff-Schiller B, Biempica L, Wolinsky H: Lysosomes and the sclerotic arterial lesion in Hurler’s disease. Hum Pathol 6:633, 1975.PubMedCrossRefGoogle Scholar
  33. 33.
    Blank E, Linder D: I-cell disease (mucolipidosis II): A lysosomopathy. Pediatrics 54:797, 1974.PubMedGoogle Scholar
  34. 34.
    Gilbert EF, Dawson G, ZuRhein GM, Opitz JM, Spranger JW: I-cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases. Z Kinderheilk 114:259, 1973.PubMedCrossRefGoogle Scholar
  35. 35.
    Glaser JH, McAlister WH, Sly WS: Genetic heterogeneity in multiple lysosomal hydrolase deficiency. J Pediatr 85:192, 1974.PubMedCrossRefGoogle Scholar
  36. 36.
    Nagashima K, Sakakibara K, Endo H, et al: I-cell disease (mucolipidosis II). Pathological and biochemical studies of an autopsy case. Acta Pathol Jpn 27:251, 1977.PubMedGoogle Scholar
  37. 37.
    Patriquin HB, Kaplan P, Kind HP, Giedion A: Neonatal mucolipidosis II (I-cell disease): Clinical and radiologic features in three cases. AJR 129:37, 1977.PubMedGoogle Scholar
  38. 38.
    Herd JK, Subramanian S, Robinson H: Type III mucopolysaccharidosis: Report of a case with severe mitral valve involvement. J Pediatr 82:101, 1973.PubMedCrossRefGoogle Scholar
  39. 39.
    Falck I: Angiokeratoma corporis dissusum Fabry mit vasorenalem Symptomenkomplex. Samml Seit Klin Falle 9:20, 1955.Google Scholar
  40. 40.
    Parkinson JE, Sunshine A: Angiokeratoma corporis diffusum universale (Fabry) presenting as suspected myocardial infarction and pulmonary infarcts. Am J Med 31:951, 1961.PubMedCrossRefGoogle Scholar
  41. 41.
    Wise D, Wallace HJ, Jellinek EH: Angiokeratoma corporis diffusum. A clinical study of eight affected families. Q J Med 31:177, 1962.PubMedGoogle Scholar
  42. 42.
    Fritz P, Schneider H, Heimburg P, Wegner G: Sekundare hypertrophe obstruktive Kardiomyopathie bei Morbus Fabry. Med Welt 29:1851, 1978.PubMedGoogle Scholar
  43. 43.
    Leder AA, Bosworth WC: Angiokeratoma corporis diffusum universale (Fabry’s disease) with mitral stenosis. Am J Med 38:814, 1965.PubMedCrossRefGoogle Scholar
  44. 44.
    Dubach UC, Gloor F: Fabry-Krankheit (Angiokeratoma corporis diffusum universale). Phosphatidspeicherkrankheit bei zwei Familien. Dtsch Med Wochenschr 91:241, 1966.PubMedCrossRefGoogle Scholar
  45. 45.
    Matsui S, Murakami E, Takekoshi N, et al: Cardiac manifestations of Fabry’s disease. Report of a case with pulmonary regurgitation diagnosed on the basis of endomyocardial biopsy findings. Jpn Circ J 41:1023, 1977.PubMedCrossRefGoogle Scholar
  46. 46.
    Becker AE, Schorl R, Balk AG, Van der Heide RM: Cardiac manifestations of Fabry’s disease. Report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction. Am J Cardiol 36:829, 1975.PubMedCrossRefGoogle Scholar
  47. 47.
    Desnick RJ, Blieden LC, Sharp HL, Hofschire PJ, Moller JH: Cardiac valvular anomalies in Fabry disease. Clinical, morphologic and biochemical studies. Circulation 54:818, 1976.PubMedGoogle Scholar
  48. 48.
    Duncan C, McLeon GM: Angiokeratoma corporis diffusum universale (Fabry’s disease): A case with gross myocardial involvement. Aust NZJ Med 1:58, 1970.Google Scholar
  49. 49.
    Ferrans VJ, Hibbs RG, Burda CD: The heart in Fabry’s disease. A histochemical and electron microscopic study. Am J Cardiol 24:95, 1969.CrossRefGoogle Scholar
  50. 50.
    Roth J, Roth H: Elektronenmikroskopische Befunde an inneren Organen bei Morgus Fabry. Virchows Arch (Pathol Anat) 378:75, 1978.CrossRefGoogle Scholar
  51. 51.
    Roberts WC, Fredrickson DS: Gaucher’s disease of the lung causing severe pulmonary hypertension with associated acute recurrent pericarditis. Circulation 35:783, 1967.PubMedGoogle Scholar
  52. 52.
    Benbassat J, Bassan H, Milwidski H, Sacks M, Groen JJ: Constrictive pericarditis in Gaucher’s disease. Am J Med 44:647, 1968.PubMedCrossRefGoogle Scholar
  53. 53.
    Harvey PKP, Jones MC, Anderson EG: Pericardial abnormalities in Gaucher’s disease. Br Heart J 31:603, 1969.PubMedCrossRefGoogle Scholar
  54. 54.
    Gonatas NK, Gonatas J: Ultrastructural and biochemical observations on a case of systemic late infantile lipidosis and its relationship to Tay-Sachs disease and gargoylism. J Neuropathol Exp Neurol 24:318, 1965.PubMedCrossRefGoogle Scholar
  55. 55.
    Hadley RN, Hagstrom JWC: Cardiac lesions in a patient with familial neurovisceral lipidosis (generalized gangliosidosis). Am J Clin Pathol 55:237, 1971.PubMedGoogle Scholar
  56. 56.
    Gilbert EF, Varakis J, Opitz JM, et al: Generalized gangliosidosis type II (juvenile GM gangliosidosis). A pathological, histochemical and ultrastructural study. Z Kinderheilk 120:151, 1975.PubMedCrossRefGoogle Scholar
  57. 57.
    Rodriquez-Torres R, Schneck L, Kleinberg W: Electrocardiographic and biochemical abnormalities in Tay-Sachs disease. Bull NY Acad Med 47:717, 1971.Google Scholar
  58. 58.
    Haust MD, Gordon BA, Hong R, et al: Clinicopathologic conference: An adolescent girl with severe mental impairment and mucopolysaccharidosis. Am J Med 22:1, 1985.CrossRefGoogle Scholar
  59. 59.
    Blieden LC, Desnick RJ, Carter JB, Krivit W, Moller JH, Sharp HL: Cardiac involvement in Sandhoff’s disease. Inborn error of glycosphingolipid metabolism. Am J Cardiol 34:83, 1974.PubMedCrossRefGoogle Scholar
  60. 60.
    Dolman CL, Chang E, Duke RJ: Pathologic findings in Sandhoff disease. Arch Pathol 96:272, 1973.PubMedGoogle Scholar
  61. 61.
    Krivit W, Desnick RJ, Lee J, et al: Generalized accumulation of neutral glycosphin-golipids with GM2 ganglioside accumulation in the brain. Sandhoff’s disease (variant of Tay-Sachs disease). Am J Med 52:763, 1972.PubMedCrossRefGoogle Scholar
  62. 62.
    Zeman W, Donahue S, Dyken P, et al: The neuronal ceroid lipofuscinosis (Batten-Vogt syndrome). In Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology, Vol 10. Amsterdam: North Holland, 1970, pp 588–679.Google Scholar
  63. 63.
    Miley CE III, Gilbert EF, France TD, O’Brien JF, Chun RWM: Clinical and extra-neural histologic diagnosis of neuronal ceroid-lipofuscinosis. Neurology 28:1008, 1978.PubMedGoogle Scholar
  64. 64.
    Carpenter S, Karpaty G, Andermann F: Specific involvement of muscle, nerve, and skin in late infantile and juvenile amaurotic idiocy. Neurology 22:170–186, 1972.PubMedGoogle Scholar
  65. 65.
    Dolman C, Change EP: Visceral lesions in amaurotic familial idiocy with curvilinear bodies. Arch Pathol 94:425–430, 1972.PubMedGoogle Scholar
  66. 66.
    Martin JJ, Jacobs K: Skin biopsy as a contribution to diagnosis in late infantile amaurotic idiocy with curvililinear bodies. Eur Neurol 10:281–291, 1973.PubMedCrossRefGoogle Scholar
  67. 67.
    Dolman CL, MacLeod PM, Chang E: Skin punch biopsies and lymphocytes in the diagnosis of lipidoses. Can J Neurol Sci 2:67–73, 1975.PubMedGoogle Scholar
  68. 68.
    Arsenio-Nunes ML, Goutieres F: An ultramicroscopic study of the skin in the diagnosis of the infantile and late infantile types of ceroid-lipofuscinosis. J Neurol Neurosurg Psychiatry 38:994–999, 1975.PubMedCrossRefGoogle Scholar
  69. 69.
    O’Brien JS, Bernett J, Veath ML, et al: Lysosomal storage disorders: Diagnosis by ultrastructural examination of skin biopsy specimens. Arch Neurol 32:592–599, 1975.PubMedGoogle Scholar
  70. 70.
    Farrell DF, Sumi SM: Skin punch biopsy in the diagnosis of juvenile neuronal ceroid-lipofuscinosis: A comparison with leukocyte peroxidase assay. Arch Neurol 34:39–44, 1977.PubMedGoogle Scholar
  71. 71.
    Tripp ME, Katcher ML, Gilbert EF, et al: Systemic carnitine deficiency presenting as familial endocardial fibroelastosis. N Engl J Med 305:385–390, 1981.PubMedCrossRefGoogle Scholar
  72. 72.
    Waber LJ et al: Carnitine deficiency presenting as familial cardiomyopathy: A treatable defect in carnitine transport. J Pediatr 101:700–705, 1982.PubMedCrossRefGoogle Scholar
  73. 73.
    Danks BM, Campbell PE, Stevens BJ, Mayne V, Cartwright E: Menkes’ kinky hair syndrome. An inherited defect in copper absorption with widespread effects. Pediatrics 50:188, 1972.PubMedGoogle Scholar
  74. 74.
    Karpati G, Carpenter S, Engel AG, et al: The syndrome of systemic carnitine deficiency: Clinical, morphologic, biochemical and pathophysiologic features. Neurology 25:16–24, 1975.PubMedGoogle Scholar
  75. 75.
    Engel AG, Rebouche CJ: Pathogenetic mechanisms in human carnitine deficiency syndromes. In Schotland DL (ed): Disorders of the Motor Unit. New York: Wiley, 1982, pp 643–656.Google Scholar
  76. 76.
    Gilbert EF: Carnitine deficiency. Pathology 17:161–169, 1985.PubMedCrossRefGoogle Scholar
  77. 77.
    Finch SC, Finch CA: Idiopathic hemochromatosis, an iron storage disease. Medicine(Baltimore) 34:381, 1955.Google Scholar
  78. 78.
    Buja LM, Roberts WC: Iron in the heart. Etiology and clinical significance. Am J Med 52:209, 1971.CrossRefGoogle Scholar
  79. 79.
    Lewis HP: Cardiac involvement in hemochromatosis. Am J Med Sci 227:544, 1954.PubMedCrossRefGoogle Scholar
  80. 80.
    Swan WGA, Dewar HA: The heart in hemochromatosis. Br Heart J 14:117, 1952.PubMedCrossRefGoogle Scholar
  81. 81.
    Tucker HS Jr, Moss LF, Williams JP: Hemochromatosis with death from heart failure. Am Heart J 35:993, 1948.PubMedCrossRefGoogle Scholar
  82. 82.
    Bottiger LE, Mollerberg H: Increased copper content of hypertrophic myocardium. Acta Med Scand 165:413, 1959.PubMedCrossRefGoogle Scholar
  83. 83.
    Azevedo EM, Scaff M, Barbosa ER, Gouveia Neto AE, Canelas HM: Heart involvement in hepatolenticular degeneration. Acta Neurol Scand 58:296, 1978.PubMedCrossRefGoogle Scholar
  84. 84.
    Danks BM, Campbell PE, Stevens BJ, Mayne V, Cartwright E: Menkes’ kinky hairsyndrome. An inherited defect in copper absorption with widespread effects. Pediatrics 50:188, 1972.PubMedGoogle Scholar
  85. 85.
    Uno H, Arya S, Laxova R, Gilbert EF: Menkes’ syndrome with vascular and adrenergic nerve abnormalities. Arch Pathol Lab Med 107:286, 1983.PubMedGoogle Scholar
  86. 86.
    Martin JJ, Flament-Durand J, Farriaux JP, Buyssen N, Ketelbant-Balasse P, Jansen C: Menkes’ kinky hair disease. A report on its pathology. Acta Neuropathol (Berl) 42:25, 1978.CrossRefGoogle Scholar
  87. 87.
    Wheeler EM, Roberts PF: Menkes’ steely hair syndrome. Arch Dis Child 51:269, 1976.PubMedCrossRefGoogle Scholar
  88. 88.
    Dubin IN: Chronic idiopathic jaundice. A review of fifty cases. Am J Med 24:268, 1958.PubMedCrossRefGoogle Scholar
  89. 89.
    Dubin IN, Johnson FB: Chronic idiopathic jaundice with unidentified pigment in the liver cells: A new clinicopathological entity with a report of twelve cases. Medicine 33:155, 1954.PubMedCrossRefGoogle Scholar
  90. 90.
    Sprinz H, Nelson RS: Persistent nonhemolytic hyperbilirubinemia associated with lipochrome-like pigment in liver cells: Report of four cases. Ann Intern Med 14:952, 1954.Google Scholar
  91. 91.
    Wegmann R, Rangier M, Eteve J, et al: Melanose hepato-splenique avec ictere chronique a bilirubine directe: Maladie de Dubin-Johnson? histochimique et Spectro-graphique du pigment abnormal. Sem Hop Paris 36:1761, 1960.Google Scholar
  92. 92.
    Butt HR, Anderson VE, Faulk WT, et al: Studies of chronic idiopathic jaundice (Dubin-Johnson syndrome). II. Evaluation of a large family with the trait. Gastroenterology 51:619, 1966.PubMedGoogle Scholar
  93. 93.
    Frankel KA, Rosser RJ: The pathology of the heart in progressive muscular dystrophy: Epimyocardial fibrosis. Hum Pathol 7:375, 1976.PubMedCrossRefGoogle Scholar
  94. 94.
    Matsuda M, Akatsuka N, Yamaguchi T, et al: Systolic time intervals in patients with progressive muscular dystrophy of the Duchenne type. Jpn Heart J 18:638, 1977.PubMedCrossRefGoogle Scholar
  95. 95.
    Rubier S, Perloff JK, Roberts WC: Duchenne’s muscular dystrophy. Am Heart J 94:776, 1977.CrossRefGoogle Scholar
  96. 96.
    Storstein O: The heart in progressive muscular dystrophy. Exp Med Surg 22:13, 1964.PubMedGoogle Scholar
  97. 97.
    James TN: Observations on the cardiovascular involvement, including the cardiac conduction system, in progressive muscular dystrophy. Am Heart J 63:48, 1962.PubMedCrossRefGoogle Scholar
  98. 98.
    Perloff JK, Roberts WC, DeLeon AC Jr, O’Doherty D: The distinctive electrocardiogram of Duchenne’s progressive muscular dystrophy. Am J Med 42:179, 1967.PubMedCrossRefGoogle Scholar
  99. 99.
    Sanyal SK, Johnson WW, Thapar MK, Pitner SE: An ultrastructural basis for electrocardiographic alterations associated with Duchenne’s progressive muscular dystrophy. Circulation 57:1122, 1978.PubMedGoogle Scholar
  100. 100.
    Sanyal SK, Johnson WW, Dische MR, et al: Dystrophic degeneration of papillary muscle and ventricular myocardium: A basis for mitral valve prolapse in Duchenne’s muscular dystrophy. Circulation 62:430–438, 1980.PubMedGoogle Scholar
  101. 101.
    Biddison JH, Dembo DH, Spalt H, et al: Familial occurrence of mitral valve prolapse in X-linked muscular dystrophy. Circulation 59:1299–1304, 1979.PubMedGoogle Scholar
  102. 102.
    Kuhn E. Fiehn W, Schroder JM, et al: Early myocardial disease and cramping myalgia in Becker-type muscular dystrophy: A kindred. Neurology 29:1144–1149, 1979.Google Scholar
  103. 103.
    Prystowsky EN, Pritchett ELC, Roses AD, et al: The natural history of conduction system disease in myotonic muscular dystrophy as determined by serial electrophysiologic studies. Circulation 60:1360–1365, 1979.PubMedGoogle Scholar
  104. 104.
    Sarnat HB, O’Connor T, Byrne PA: Clinical effects of myotonic dystrophy on pregnancy and the neonate. Arch Neurol 33:459–465, 1976.PubMedGoogle Scholar
  105. 105.
    Meier C et al: Nemaline myopathy presenting as cardiomyopathy. N Engl J Med 308:1536, 1983.PubMedGoogle Scholar
  106. 106.
    Pearson CM: Myotubular myopathy. In Bergsma D (ed): Birth Defects Compendium. New York: National Foundation, 1979.Google Scholar
  107. 107.
    Huckell VR, Staniloff HM, Britt BA, et al: Cardiac manifestations of malignant hyperthermia susceptibility. Circulation 58:916–925, 1978.PubMedGoogle Scholar
  108. 108.
    Kramer LD et al: Cardiac dysfunction in a patient with familial hypokalemic periodic paralysis. Chest 75:189–192, 1979.PubMedCrossRefGoogle Scholar
  109. 109.
    Perloff JK: The myocardial disease of heredofamilial neuromyopathies. In Fowler NO (ed): Myocardial Disease. New York: Grune and Stratton, 1973, p 319.Google Scholar
  110. 110.
    Hewer RL: The heart in Friedrichs ataxia. Br Heart J 31:5, 1969.PubMedCrossRefGoogle Scholar
  111. 111.
    Ivemark B, Thoren C: The pathology of the heart in Friedreich’s ataxia. Changes in coronary arteries and myocardium. Acta Med Scand 175:227, 1964.PubMedCrossRefGoogle Scholar
  112. 112.
    Schilero AJ, Antzia E, Dunn J: Friedriech’s ataxia and its cardiac manifestations. Am Heart J 44:805, 1952.PubMedCrossRefGoogle Scholar
  113. 113.
    Barrillon A, Bensaid J, Coirault R, Scebat L, Maurice P, Gerbaux A: Myocardiopathie obstructive et maladie de Friedreich. Arch Mal Coeur 66:1525, 1973.PubMedGoogle Scholar
  114. 114.
    Gach JV, Andriange M, Franck G: Hypertrophie obstructive cardiomyopathy and Friedreich’s ataxia. Report of a case and review of literature. Am J Cardiol 27:436, 1971.PubMedCrossRefGoogle Scholar
  115. 115.
    Pernot C: La Myocardiopathie de la maladie de Friedreich. A propos d’une serie de 17 observations. Arch Fr Pediatr 36:11, 1979.PubMedGoogle Scholar
  116. 116.
    Smith ER, Sangalang VE, Hoffernan LP, Welch JP, Flemington CS: Hypertrophic cardiomyopathy: The heart disease of Friedreich’s ataxia. Am Heart J 94:428, 1977.PubMedCrossRefGoogle Scholar
  117. 117.
    James TN, Fisch C: Observations on the cardiovascular involvement in Friedreich’s ataxia. Am Heart J 66:164, 1964.CrossRefGoogle Scholar
  118. 118.
    Pearson CM: Myotubular myopathy. In Bergsma D (ed): Birth Defects Compendium. New York: National Foundation, 1979.Google Scholar
  119. 119.
    Page E, Polimeni PI, Zak R, et al: Myofibrillar mass in rat and rabbit heart muscle. Circ Res 30:430–439, 1972.PubMedGoogle Scholar
  120. 120.
    Peters TJ, Wells G, Oakley CM, et al: Enzymic analysis of endomyocardial biopsy specimens from patients with cardiomyopathies. Br Heart J 39:1333–1339, 1977.PubMedCrossRefGoogle Scholar
  121. 121.
    Carafoli E: Mitochondria and disease. Mol Aspects Med 3:295–429, 1980.CrossRefGoogle Scholar
  122. 122.
    Egger J, Lake BD, Wilson J: Mitochondrial cytopathy: A multisystem disorder with ragged red fibers on muscle biopsy. Arch Dis Child 56:741–752, 1981.PubMedCrossRefGoogle Scholar
  123. 123.
    Neustein HB, Lurie PR, Dahms B, Takahashi M: An X-linked recessive cardiomyopathy with abnormal mitochondria. Pediatrics 64:24, 1979.PubMedGoogle Scholar
  124. 124.
    Barth TG, Scholete HR, Derden JA, et al: An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes. J Neurol Sci 62:237, 1983.CrossRefGoogle Scholar
  125. 125.
    Ino T, Sherwood WJ, Cutz E, Benson L, Rose V, Freedom RM: Dilated cardiomyopathy with neutropenia, short stature, and abnormal carnitine metabolism. J Pediatr 113:511, 1988.PubMedCrossRefGoogle Scholar
  126. 126.
    Egger J, Wilson J: Mitochondria inheritance in a mitochondrially mediated disease. N Engl J Med 303:142–146, 1983.CrossRefGoogle Scholar
  127. 127.
    Goertz K, Diehl AM, Vaseenon T, Mattioli L: A catastrophic complication. Acute dissection of an aortic aneurysm in a child with Marfan’s syndrome. J Kons Med Soc 79:115, 1978.Google Scholar
  128. 128.
    Houston HE: Abdominal aortic aneurysm in Marian’s syndrome. J Ky Med Assoc 76:492, 1978.PubMedGoogle Scholar
  129. 129.
    Thilenius OG, Bharati S, Arcilla RA, Lev M: Cardiac pathology of Marfan’s syndrome: Can dissection and rupture of aortic aneurysms be prevented? Cardiology 65:193, 1980.PubMedCrossRefGoogle Scholar
  130. 130.
    McKusick VA: The cardiovascular aspects of Marfan’s syndrome: A heritable disorder of connective tissue. Circulation 11:321, 1955.PubMedGoogle Scholar
  131. 131.
    Julien J, De Boucaud D: Aneurysme dans le systeme de la veine de Galien et syndrome de Marfan. Bordeaux Med 11:3245, 1971.Google Scholar
  132. 132.
    Crisfield RJ: Spontaneous aneurysm of the ductus arteriosus in a patient with Marfan’s syndrome. J Thorac Cardiovasc Surg 62:243, 1971.PubMedGoogle Scholar
  133. 133.
    Fournier C: Les lesions cardio-vasculaires due syndrome de Marfan. Coeur Med Interne 16:331, 1977.PubMedGoogle Scholar
  134. 134.
    Bolande RP: The nature of the connective tissue abiotrophy in the Marfan syndrome. Lab Invest 12:1087, 1963.PubMedGoogle Scholar
  135. 135.
    Saruk M, Eisenstein R: Aortic lesion in Marfan syndrome. The ultrastructure of cystic medial degeneration. Arch Pathol Lab Med 101:74, 1977.PubMedGoogle Scholar
  136. 136.
    Takebayashi S, Kubota I, Takagi T: Ultrastructural and histochemical slides of vascular lesions in Marfan’s syndrome, with report of 4 autopsy cases. Acta Pathol Jpn 23:847, 1973.PubMedGoogle Scholar
  137. 137.
    Roberts WC: Congenital cardiovascular abnormalities usually “silent” until adulthood: Morphologic features of the floppy mitral valve, valvular aortic stenosis, discrete subvalvular aortic stenosis, hypertrophic cardiomyopathy, sinus of Valsalva aneurysm, and the Marfan syndrome. In Roberts WC (ed): Congenital Heart Disease in Adults. Philadelphia: Davis, 1979, p 407.Google Scholar
  138. 138.
    Phornphutkul C, Rosenthal A, Nadas AS: Cardiac manifestations of Marfan syndrome in infancy and childhood. Circulation 57:587, 1973.Google Scholar
  139. 139.
    Simpson JW, Nord JJ, McNamara DG: Marfan’s syndrome and mitral valve disease: Acute surgical emergencies. Am Heart J 77:96, 1969.PubMedCrossRefGoogle Scholar
  140. 140.
    Olinger GN, Korns ME, Bonchek LI: Acute aortic valvular insufficiency due to isolated myxomatous degeneration. Ann Intern Med 88:807, 1978.PubMedGoogle Scholar
  141. 141.
    Jortner R, Shihin W, Eshkol D, Gueron M, Levy MJ: Cardiovascular manifestations and surgery for Marfan’s syndrome. Chest 56:24, 1969.CrossRefGoogle Scholar
  142. 142.
    Eldridge R: Coarctation in the Marfan syndrome. Arch Intern Med 113:342, 1964.PubMedGoogle Scholar
  143. 143.
    Marvel RJ, Genoves PD: Cardiovascular disease in Marfan’s syndrome. Am Heart J 42:814, 1951.PubMedCrossRefGoogle Scholar
  144. 144.
    McKusick VA, Neufeld EF: The mucopolysaccharide storage disease. In Stanbury JB et al (eds): The Metabolic Basis of Inherited Disease, 5th Ed, vol 36. New York: McGraw-Hill, 1983, pp 751–777.Google Scholar
  145. 145.
    Beighton P: Lethal complications of the Ehlers-Danlos syndrome. Br Med J 3:656, 1968.PubMedCrossRefGoogle Scholar
  146. 146.
    Rotberg T, Sanagustin MT, Salinas L, Macias R: Sindrome de Ehlers-Danlos asociado a communicacion interauricular, bloqueo A-V completo, aneurisma de aorta y crecimento del ventriculo izquierdo (miocardiopatia). Arch Inst Cardiol Mex 47:462, 1977.Google Scholar
  147. 147.
    Burnett HF, Bledsoe JH, Char F, Williams GD: Abdominal aortic aneurysmectomy in a 17-year-old patient with Ehlers-Danlos syndrome: Case report and review of the literature. Surgery 74:617, 1973.PubMedGoogle Scholar
  148. 148.
    Caheen WR Jr, Reza MJ, Kovick RB, Stern MS: Mitral valve prolapse and conduction defects in Ehlers-Danlos syndrome. Arch Intern Med 137:1227, 1977.CrossRefGoogle Scholar
  149. 149.
    Scully RE, Galdabini JJ, McNeely BU: Case 3–1979, presentation of case (case records of the Massachusetts General Hospital). N Engl J Med 300:129, 1979.CrossRefGoogle Scholar
  150. 150.
    Beighton P: Lethal complications of the Ehlers-Danlos syndrome. Br Med J 3:656, 1968.PubMedCrossRefGoogle Scholar
  151. 151.
    Barabas AP: Vascular complications in the Ehlers-Danlos syndrome. With special reference to the “arterial type” or “Sack’s syndrome.” J Cardiovasc Surg 13:160, 1972.Google Scholar
  152. 152.
    Schoolman A, Kepes JJ: Bilateral spontaneous carotid cavernous fistulae in Ehlers-Danlos syndrome. Case report. J Neurosurg 26:82, 1967.CrossRefGoogle Scholar
  153. 153.
    Umlas J: Spontaneous rupture of the subclavian artery in the Ehlers-Danlos syndrome. Hum Pathol 3:121, 1972.PubMedCrossRefGoogle Scholar
  154. 154.
    Sillence DO, Senn A, Danks DM: Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16:101, 1979.PubMedCrossRefGoogle Scholar
  155. 155.
    Sillence DO, Barlow KK, Garber AP, Hall JG, Rimoin DL: Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet 17:407–423, 1984.PubMedCrossRefGoogle Scholar
  156. 156.
    Steinmann B, Rao VH, Vogel A, Bruckner P, Gitzelmann B, Byers PH: Cysteine in the triple-helical domain of one allelic product of the alpha 1 (I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. J Biol Chem 259:11129–11138, 1984.PubMedGoogle Scholar
  157. 157.
    Spranger J, Cremin B, Beighton P: Osteogenesis imperfecta congenita. Pediatr Radiol 12:21, 1982.PubMedCrossRefGoogle Scholar
  158. 158.
    Cohen IM, Vieweg WVR, Alpert JS, Kaufman JA, Hagan AD: Osteogenesis imperfecta tarda. Cardiovascular pathology. West J Med 126:228, 1977.PubMedGoogle Scholar
  159. 159.
    De los Arcos E, Urguia M, Torrano E, et al: Osteogenesis imperfecta e insuficiencia aortica. Rev Clin Esp 133:531, 1974.Google Scholar
  160. 160.
    Heckman BA, Steinberg I: Congenital heart disease (mitral regurgitation) in osteogenesis imperfecta. AJR 103:601, 1968.Google Scholar
  161. 161.
    Melamed R, Aygen MM, Lowenstein A: Osteogenesis imperfecta with mitral insufficiency due to ballooning of the mitral valve. A case report. Isr J Med Sei 12:1325, 1976.Google Scholar
  162. 162.
    Pijoan de Beristain C: Asociacion de insuficiencia aortica con osteogenesis imperfecta, en dos sujetos de la misma familia. Rev Esp Cardiol 26:405, 1973.Google Scholar
  163. 163.
    Remigio PA, Grinvalsky HT: Ostegenesis imperfecta congenita. Association with conspicious extraskeletal connective tissue dysplasia. Am J Dis Child 119:524, 1970.PubMedGoogle Scholar
  164. 164.
    Siggers DC: Osteogenesis imperfecta with aortic valve replacement. BDOAS 10:495, 1974.Google Scholar
  165. 165.
    Stein D, Kloster FE: Valvular heart disease in osteogenesis imperfecta. Am Heart J 94:1172, 1977.Google Scholar
  166. 166.
    Wheeler VR, Cooley NR, Blackburn WR: Cardiovascular pathology in osteogenesis imperfecta type IIA with a review of the literature. Pediatr Pathol 8:55–64, 1988.PubMedCrossRefGoogle Scholar
  167. 167.
    Goodman RM, Smith EW, Päton D, et al: Pseudoxanthoma elasticum: A clinical and histopathological study. Medicine 42:297, 1963.PubMedCrossRefGoogle Scholar
  168. 168.
    Mendelsohn G, Bulkley BH, Hutchins GM: Cardiovascular manifestations of pseudoxanthoma elasticum. Arch Pathol Lab Med 102:298, 1978.PubMedGoogle Scholar
  169. 169.
    Schachner L, Young D: Pseudoxanthoma elasticum with severe cardiovascular disease in a child. Am J Dis Child 127:571, 1974.Google Scholar
  170. 170.
    Haust MD: Maternal diabetes mellitus-Effects on the fetus and placenta. In Naeye RL, Kissane JM, Kaufman N (eds): Perinatal Pathology. Baltimore: Williams and Wilkins, 1981, p 20 (Chapter 8).Google Scholar
  171. 171.
    Gutgesell HP, Mullins CE, Gillette PC, Speer M, Rudolph AJ, McNamara DG: Transient hypertrophic subaortic stenosis. J Pediatr 89:120–125, 1976.PubMedCrossRefGoogle Scholar
  172. 172.
    Miller HC: Cardiac hypertrophy and extramedullary erythropoiesis in newborn infants of prediabetic mothers. Am J Med Sci 209:447, 1945.CrossRefGoogle Scholar
  173. 173.
    Symons C: Thyroid heart disease. Br Heart J 41:257–262, 1979.PubMedCrossRefGoogle Scholar
  174. 174.
    Schaffer MS, Zuberbuhler P, Wilson G, et al: Catecholamine cardiomyopathy: An unusual presentation of pheochromocytoma in children. J Pediatr 99:276–279, 1981.PubMedCrossRefGoogle Scholar
  175. 175.
    Baim D, Rothman M, Harrison D: Improved catheter for regional sinus flow and metabolic studies. Am J Cardiol 45:997–1000, 1980.CrossRefGoogle Scholar
  176. 176.
    Baim D, Rothman M, Harrison D: Simultaneous measurement of coronary venous blood flow and oxygen saturation during transient alterations in myocardial oxygen supply and demand. Am J Cardiol 49:743–752, 1982.PubMedCrossRefGoogle Scholar
  177. 177.
    Kober G, Kunkel B, Becker HJ, et al: Technical aspects, experiences and complications of right and left ventricular endomyocardial biopsy. In Kaltenbach M, Loogen F, Olsen EGT (eds): Cardiomyopathy and Myocardial Biopsy. New York: Springer-Verlag, 1978.Google Scholar
  178. 178.
    Fujita M, Neustein HB, Lurie PR: Transvascular endomyocardial biopsy in infants and small children: Myocardial findings in 10 cases of cardiomyopoathy. Hum Pathol 10:15, 1979.PubMedCrossRefGoogle Scholar
  179. 179.
    Tripp ME: Congestive Cardiomyopathy of Childhood. Chicago: Year Book, 1984, pp 179–202.Google Scholar
  180. 180.
    Gruhzit CC, Farah AE: A comparison of the positive inotropic effects of ouabain and epinephrine in heart failure induced in the dog heart-lung preparation by sodium pentobarbital, dinitrophenol, sodium cyanide and sodium azide. J Pharmacol Exp Ther 114:334–342, 1959.Google Scholar
  181. 181.
    Daly K et al: Significant incidence of mural thrombi in acute myocarditis—indication for early anticoagulation. J Am Coll Cardiol 1:584, 1983.Google Scholar

Copyright information

© Springer-Verlag New York Inc. 1990

Authors and Affiliations

  • Enid Gilbert-Barness
    • 1
  1. 1.Departments of Pathology and PediatricsUniversity of Wisconsin School of MedicineMadisonUSA

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