Subclinical Becker's Muscular Dystrophy Presenting with Severe Heart Failure

Abstract

We describe a rare case of Becker's muscular dystrophy (BMD) in a 28-year-old man complicated by rapidly progressing heart failure without apparent clinical signs of neuromuscular disease. He showed rhabdomyolysis, which repeatedly occurred causing acute renal failure as heart failure worsened. His serum creatine kinase (CK) level was generally below 300 IU/l. However, it exceeded more than 10,000 IU/l at the time of myoglobinuria. This suggests that the worsening of heart failure could induce rhabdomyolysis in a BMD patient. Gene analysis for BMD should be considered when the elevation of serum CK is noted in heart failure.

Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders

“…Drosophila melanogaster taz mutants exhibited a BTHS-related phenotype, with the triad of abnormal cardiolipin, pathologic mitochondria, and motor weakness; this phenotype was suppressed by inactivation of the gene encoding type VIA calcium-independent phospholipase A 2 ( 260 ). We demonstrated that expression of MLCL AT-1 in human BTHS lymphoblasts resulted in increased MLCL AT protein, [1][2][3][4][5][6][7][8][9][10][11][12][13][14] C]linoleate incorporation into CL, CL mass, and mitochondrial function, measured in terms of succinate dehydrogenase (mitochondrial complex II) activity compared with mocktransfected BTHS lymphoblasts ( 253 ). HPLC-MS has confi rmed the validity of MLCL and CL analysis as a diag- Gaucher disease.…”

“…Defects in the genes coding for calpain-3, choline kinase ␤ , AMP-dependent protein kinase, and desmin have been shown to cause LGMD2A, rostrocaudal MD, myotonic MD, and desminopathies, respectively ( Table 1 , Table 2 ) ( 4,(8)(9)(10)(11)(12). The mutations that underlie these skeletal muscle abnormalities also commonly affect cardiac muscle, resulting in a deterioration of heart function ( 1,2,(12)(13)(14)(15).…”

“…These include Fabry disease ( 268 ), gangliosidoses Vreken et al ( 245 ) demonstrated a 75% reduction in the CL pool size with a reduced incorporation of [1][2][3][4][5][6][7][8][9][10][11][12][13][14] C]linoleic acid (C18:2n-6) into CL and phosphatidylglycerol, despite no alteration in the biosynthetic rate of these polyglycerophospholipids. In addition, incorporation of [1][2][3][4][5][6][7][8][9][10][11][12][13][14] C]palmitate (C16:0), stearate (C18:0), oleate (C18:1n-9), and arachidonate (C20:4n-6) into CL did not differ between control and BTHS fi broblasts ( 245 ). Valianpour et al ( 246 ) observed a signifi cant decrease in (C18:2) 4 -CL in cultured skin fi broblasts of BTHS patients using normal phase high-performance liquid chromatographyelectrospray mass spectrometry.…”

Cardiac involvement in Becker muscular dystrophy

“…CI may precede affection of the skeletal muscles even by years (43,77,78). Rapidly progressive heart failure without apparent clinical signs of neuromuscular disease has been reported in a 38-year-old patient with rhabdomyolysis, which was complicated by renal failure (78), and in a 33-year-old patient in whom dCMP evolved into severe heart failure, necessitating heart transplantation six years before affecting the skeletal muscle (43).…”

“…Rapidly progressive heart failure without apparent clinical signs of neuromuscular disease has been reported in a 38-year-old patient with rhabdomyolysis, which was complicated by renal failure (78), and in a 33-year-old patient in whom dCMP evolved into severe heart failure, necessitating heart transplantation six years before affecting the skeletal muscle (43). Particularly in such cases, the correct diagnosis is frequently delayed until skeletal muscle is also involved.…”