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Myofiber disarray

MedGen UID:
1615672
Concept ID:
C3671015
Finding
Synonym: Myocyte disarray
 
HPO: HP:0031318

Definition

A nonparallel arrangement of cardiac myocytes. [from HPO]

Term Hierarchy

Conditions with this feature

Hypertrophic cardiomyopathy 6
MedGen UID:
331466
Concept ID:
C1833236
Disease or Syndrome
Mutations in the PRKAG2 gene (602743) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild to severe cardiac hypertrophy, enhanced risk of sudden cardiac death in midlife, and autosomal dominant inheritance with full penetrance (summary by Burwinkel et al., 2005).
Congenital myopathy 23
MedGen UID:
324513
Concept ID:
C1836447
Disease or Syndrome
Nemaline myopathy is divided into six types. In order of decreasing severity, the types are: severe congenital, Amish, intermediate congenital, typical congenital, childhood-onset, and adult-onset. The types are distinguished by the age when symptoms first appear and the severity of symptoms; however, there is overlap among the various types. The severe congenital type is the most life-threatening. Most individuals with this type do not survive past early childhood due to respiratory failure. The Amish type solely affects the Old Order Amish population of Pennsylvania and is typically fatal in early childhood. The most common type of nemaline myopathy is the typical congenital type, which is characterized by muscle weakness and feeding problems beginning in infancy. Most of these individuals do not have severe breathing problems and can walk unassisted. People with the childhood-onset type usually develop muscle weakness in adolescence. The adult-onset type is the mildest of all the various types. People with this type usually develop muscle weakness between ages 20 and 50.\n\nNemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur.
Hypertrophic cardiomyopathy 4
MedGen UID:
350526
Concept ID:
C1861862
Disease or Syndrome
Nonfamilial hypertrophic cardiomyopathy tends to be milder. This form typically begins later in life than familial hypertrophic cardiomyopathy, and affected individuals have a lower risk of serious cardiac events and sudden death than people with the familial form.\n\nWhile most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.\n\nThe symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting.\n\nIn familial hypertrophic cardiomyopathy, cardiac thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Familial hypertrophic cardiomyopathy often begins in adolescence or young adulthood, although it can develop at any time throughout life.\n\nHypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. When multiple members of a family have the condition, it is known as familial hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy also occurs in people with no family history; these cases are considered nonfamilial hypertrophic cardiomyopathy. 
Dilated cardiomyopathy 1AA
MedGen UID:
393713
Concept ID:
C2677338
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.
Dilated cardiomyopathy 2A
MedGen UID:
437214
Concept ID:
C2678474
Disease or Syndrome
A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.
Hypertrophic cardiomyopathy 15
MedGen UID:
413312
Concept ID:
C2750459
Disease or Syndrome
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene.
Dilated cardiomyopathy 1R
MedGen UID:
462031
Concept ID:
C3150681
Disease or Syndrome
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.
Hypertrophic cardiomyopathy 21
MedGen UID:
766356
Concept ID:
C3553442
Disease or Syndrome
Hypertrophic cardiomyopathy (CMH) is characterized by unexplained cardiac hypertrophy: thickening of the myocardial wall in the absence of any other identifiable cause for left ventricular hypertrophy such as systemic hypertension or valvular heart disease. Myocyte hypertrophy, disarray, and fibrosis are the histopathologic hallmarks of this disorder. Clinical features are diverse and include arrhythmias, sudden cardiac death, and heart failure. With an estimated prevalence of 1 in 500, CMH is the most common cardiovascular genetic disease and the most common cause of sudden death in competitive athletes in the United States (summary by Song et al., 2006). For a discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see CMH1 (192600).
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
MedGen UID:
1748867
Concept ID:
C5399977
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.
Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
MedGen UID:
1794147
Concept ID:
C5561937
Disease or Syndrome
Infantile-onset myofibrillar myopathy-12 with cardiomyopathy (MFM12) is a severe autosomal recessive disorder affecting both skeletal and cardiac muscle tissue that is apparent in the first weeks of life. Affected infants show tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure, usually resulting in death by 6 months of age. Skeletal and cardiac muscle tissues show hypotrophy of type I muscle fibers and evidence of myofibrillar disorganization (summary by Weterman et al., 2013). For a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).
Myopathy, distal, 7, adult-onset, X-linked
MedGen UID:
1808663
Concept ID:
C5676880
Disease or Syndrome
X-linked adult-onset distal myopathy-7 (MPD7) is an X-linked recessive disorder that affects only males. It is characterized by onset of distal muscle weakness predominantly affecting the lower limbs between 20 and 60 years of age. The disorder is slowly progressive, with most affected individuals developing distal upper limb involvement and some developing proximal muscle involvement, although patients remain ambulatory. Muscle biopsy shows variable myopathic changes as well as sarcoplasmic inclusions that may represent abnormally aggregated proteins (summary by Johari et al., 2021).
Cardiomyopathy, dilated, 2G
MedGen UID:
1801983
Concept ID:
C5676995
Disease or Syndrome
Dilated cardiomyopathy-2G (CMD2G) is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy. Cardiac tissue exhibits markedly shortened thin filaments, disorganized myofibrils, and reduced contractile force generation, resulting in the severe ventricular dysfunction observed. There is no evidence of skeletal muscle hypertrophy (Ahrens-Nicklas et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
MedGen UID:
1847702
Concept ID:
C5882696
Disease or Syndrome
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities (ARCME) is characterized by severe dilated cardiomyopathy resulting in death or cardiac transplantation in childhood. Ventricular tachycardia, sustained or nonsustained, has been reported. In addition, some patients exhibit ectodermal manifestations including woolly or wiry hair, dental anomalies, dry skin, and/or dystrophic nails. Cleft lip and palate and corneal abnormalities have also been observed (Robinson et al., 2020; Henry et al., 2022).

Professional guidelines

PubMed

Lombardi L, Bruder E, Pio L, Nozza P, Thai E, Lerone M, Del Rossi C, Mattioli G, Silini EM, Paraboschi I, Martucciello G
J Pediatr Gastroenterol Nutr 2018 Mar;66(3):383-386. doi: 10.1097/MPG.0000000000001727. PMID: 28837505

Recent clinical studies

Etiology

Jarrar Q, Al-Doaiss A, Jarrar BM, Alshehri M
Toxicol Ind Health 2022 Dec;38(12):789-800. Epub 2022 Oct 17 doi: 10.1177/07482337221133881. PMID: 36253334
Weissler-Snir A, Allan K, Cunningham K, Connelly KA, Lee DS, Spears DA, Rakowski H, Dorian P
Circulation 2019 Nov 19;140(21):1706-1716. Epub 2019 Oct 21 doi: 10.1161/CIRCULATIONAHA.119.040271. PMID: 31630535
Ibrahim MG, Chiantera V, Frangini S, Younes S, Köhler C, Taube ET, Plendl J, Mechsner S
Fertil Steril 2015 Dec;104(6):1475-83.e1-3. Epub 2015 Oct 9 doi: 10.1016/j.fertnstert.2015.09.002. PMID: 26439760
Kocovski L, Fernandes J
Arch Pathol Lab Med 2015 Mar;139(3):413-6. doi: 10.5858/arpa.2013-0489-RS. PMID: 25724039
Takemura G, Fujiwara H, Mukoyama M, Saito Y, Nakao K, Kawamura A, Ishida M, Kida M, Uegaito T, Tanaka M
Circulation 1991 Jan;83(1):181-90. doi: 10.1161/01.cir.83.1.181. PMID: 1824622

Diagnosis

Jarrar Q, Al-Doaiss A, Jarrar BM, Alshehri M
Toxicol Ind Health 2022 Dec;38(12):789-800. Epub 2022 Oct 17 doi: 10.1177/07482337221133881. PMID: 36253334
Lombardi L, Bruder E, Pio L, Nozza P, Thai E, Lerone M, Del Rossi C, Mattioli G, Silini EM, Paraboschi I, Martucciello G
J Pediatr Gastroenterol Nutr 2018 Mar;66(3):383-386. doi: 10.1097/MPG.0000000000001727. PMID: 28837505
Ashrafian H, McKenna WJ, Watkins H
Circ Res 2011 Jun 24;109(1):86-96. doi: 10.1161/CIRCRESAHA.111.242974. PMID: 21700950
McVeigh E
J Electrocardiol 2006 Oct;39(4 Suppl):S24-7. Epub 2006 Sep 8 doi: 10.1016/j.jelectrocard.2006.05.031. PMID: 16963066Free PMC Article
Tazelaar HD, Billingham ME
Arch Pathol Lab Med 1987 Mar;111(3):257-60. PMID: 3827529

Therapy

Hahn A, Lauriol J, Thul J, Behnke-Hall K, Logeswaran T, Schänzer A, Böğürcü N, Garvalov BK, Zenker M, Gelb BD, von Gerlach S, Kandolf R, Kontaridis MI, Schranz D
Am J Med Genet A 2015 Apr;167A(4):744-51. Epub 2015 Feb 23 doi: 10.1002/ajmg.a.36982. PMID: 25708222Free PMC Article

Prognosis

Weissler-Snir A, Allan K, Cunningham K, Connelly KA, Lee DS, Spears DA, Rakowski H, Dorian P
Circulation 2019 Nov 19;140(21):1706-1716. Epub 2019 Oct 21 doi: 10.1161/CIRCULATIONAHA.119.040271. PMID: 31630535
McVeigh E
J Electrocardiol 2006 Oct;39(4 Suppl):S24-7. Epub 2006 Sep 8 doi: 10.1016/j.jelectrocard.2006.05.031. PMID: 16963066Free PMC Article
Burke AP, Ribe JK, Bajaj AK, Edwards WD, Farb A, Virmani R
Hum Pathol 1998 Sep;29(9):904-9. doi: 10.1016/s0046-8177(98)90194-0. PMID: 9744305
Sekijima Y, Ikeda S, Katai S, Matsuda M, Hashimoto T, Haruta S, Owa M, Sakai T, Takeda S, Yanagisawa N
Intern Med 1995 Mar;34(3):166-70. doi: 10.2169/internalmedicine.34.166. PMID: 7787321

Clinical prediction guides

Weissler-Snir A, Allan K, Cunningham K, Connelly KA, Lee DS, Spears DA, Rakowski H, Dorian P
Circulation 2019 Nov 19;140(21):1706-1716. Epub 2019 Oct 21 doi: 10.1161/CIRCULATIONAHA.119.040271. PMID: 31630535
Ibrahim MG, Chiantera V, Frangini S, Younes S, Köhler C, Taube ET, Plendl J, Mechsner S
Fertil Steril 2015 Dec;104(6):1475-83.e1-3. Epub 2015 Oct 9 doi: 10.1016/j.fertnstert.2015.09.002. PMID: 26439760
Roeder HA, Cramer SF, Leppert PC
Reprod Sci 2012 May;19(5):463-73. Epub 2012 Feb 16 doi: 10.1177/1933719111426603. PMID: 22344737
McVeigh E
J Electrocardiol 2006 Oct;39(4 Suppl):S24-7. Epub 2006 Sep 8 doi: 10.1016/j.jelectrocard.2006.05.031. PMID: 16963066Free PMC Article
Tseng WY, Dou J, Reese TG, Wedeen VJ
J Magn Reson Imaging 2006 Jan;23(1):1-8. doi: 10.1002/jmri.20473. PMID: 16331592

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