Skip to main content
Erschienen in: Herz 8/2019

20.04.2018 | Letter to the editors

Mutations in genes associated with either myopathy or noncompaction

verfasst von: J. Finsterer, MD, PhD, C. Stollberger, MD

Erschienen in: Herz | Ausgabe 8/2019

Einloggen, um Zugang zu erhalten

Excerpt

Left ventricular hypertrabeculation (LVHT), also known as noncompaction, is a myocardial abnormality of unknown etiology. However, LVHT occurs with an increased prevalence in patients with a neuromuscular disorder (NMD) [1] or a chromosomal defect [2], in athletes [3], in pregnant women [4], and in black Africans [5]. In pregnant women, LVHT is reversible after pregnancy, suggesting that LVHT can be the consequence of an adaptational process and is not necessarily congenital. …
Literatur
1.
Zurück zum Zitat Finsterer J, Stöllberger C (2013) Unclassified cardiomyopathies in neuromuscular disorders. Wien Med Wochenschr 163:505–513CrossRef Finsterer J, Stöllberger C (2013) Unclassified cardiomyopathies in neuromuscular disorders. Wien Med Wochenschr 163:505–513CrossRef
2.
Zurück zum Zitat Finsterer J (2009) Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. Pediatr Cardiol 30:659–681CrossRef Finsterer J (2009) Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. Pediatr Cardiol 30:659–681CrossRef
3.
Zurück zum Zitat Gati S, Chandra N, Bennett RL et al (2013) Increased left ventricular trabeculation in highly trained athletes: do we need more stringent criteria for the diagnosis of left ventricular non-compaction in athletes? Heart 99:401–408CrossRef Gati S, Chandra N, Bennett RL et al (2013) Increased left ventricular trabeculation in highly trained athletes: do we need more stringent criteria for the diagnosis of left ventricular non-compaction in athletes? Heart 99:401–408CrossRef
4.
Zurück zum Zitat Gati S, Papadakis M, Papamichael ND et al (2014) Reversible de novo left ventricular trabeculations in pregnant women: implications for the diagnosis of left ventricular noncompaction in low-risk populations. Circulation 130:475–483CrossRef Gati S, Papadakis M, Papamichael ND et al (2014) Reversible de novo left ventricular trabeculations in pregnant women: implications for the diagnosis of left ventricular noncompaction in low-risk populations. Circulation 130:475–483CrossRef
5.
Zurück zum Zitat Peters F, Khandheria BK, dos Santos C et al (2012) Isolated left ventricular noncompaction in sub-Saharan Africa: a clinical and echocardiographic perspective. Circ Cardiovasc Imaging 5:187–193CrossRef Peters F, Khandheria BK, dos Santos C et al (2012) Isolated left ventricular noncompaction in sub-Saharan Africa: a clinical and echocardiographic perspective. Circ Cardiovasc Imaging 5:187–193CrossRef
6.
Zurück zum Zitat Wessels MW, Herkert JC, Frohn-Mulder IM et al (2015) Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. Eur J Hum Genet 23:922–928CrossRef Wessels MW, Herkert JC, Frohn-Mulder IM et al (2015) Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. Eur J Hum Genet 23:922–928CrossRef
7.
Zurück zum Zitat Tajsharghi H, Leren TP, Abdul-Hussein S et al (2010) Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C. J Med Genet 47:575–577CrossRef Tajsharghi H, Leren TP, Abdul-Hussein S et al (2010) Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C. J Med Genet 47:575–577CrossRef
8.
Zurück zum Zitat Chang B, Nishizawa T, Furutani M et al (2011) Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death. Mol Genet Metab 102:200–206CrossRef Chang B, Nishizawa T, Furutani M et al (2011) Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death. Mol Genet Metab 102:200–206CrossRef
9.
Zurück zum Zitat Clarke NF (2008) Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin. Adv Exp Med Biol 642:40–54CrossRef Clarke NF (2008) Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin. Adv Exp Med Biol 642:40–54CrossRef
10.
Zurück zum Zitat Dellefave LM, Pytel P, Mewborn S, Mora B, Guris DL, Fedson S, Waggoner D, Moskowitz I, McNally EM (2009) Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ Cardiovasc Genet 2:442–449CrossRef Dellefave LM, Pytel P, Mewborn S, Mora B, Guris DL, Fedson S, Waggoner D, Moskowitz I, McNally EM (2009) Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ Cardiovasc Genet 2:442–449CrossRef
11.
Zurück zum Zitat Jungbluth H, Sewry CA, Brown SC et al (2001) Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. Neuromuscul Disord 11:35–40CrossRef Jungbluth H, Sewry CA, Brown SC et al (2001) Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. Neuromuscul Disord 11:35–40CrossRef
13.
Zurück zum Zitat Lornage X, Malfatti E, Chéraud C et al (2017) Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. Ann Neurol 81:467–473CrossRef Lornage X, Malfatti E, Chéraud C et al (2017) Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. Ann Neurol 81:467–473CrossRef
14.
Zurück zum Zitat Zhang Q, Bethmann C, Worth NF et al (2007) Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet 16:2816–2833CrossRef Zhang Q, Bethmann C, Worth NF et al (2007) Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet 16:2816–2833CrossRef
15.
Zurück zum Zitat Grebe S, Ichida F, Grabitz R et al (2007) Reversed pulmonary artery flow in isolated noncompaction of the ventricular myocardium. Fetal Diagn Ther 22:29–32CrossRef Grebe S, Ichida F, Grabitz R et al (2007) Reversed pulmonary artery flow in isolated noncompaction of the ventricular myocardium. Fetal Diagn Ther 22:29–32CrossRef
17.
Zurück zum Zitat Sonam K, Bindu PS, Taly AB et al (2014) Mitochondrial myopathy, cardiomyopathy, and pontine signal changes in an adult patient with isolated complex II deficiency. J Clin Neuromuscul Dis 16:69–73CrossRef Sonam K, Bindu PS, Taly AB et al (2014) Mitochondrial myopathy, cardiomyopathy, and pontine signal changes in an adult patient with isolated complex II deficiency. J Clin Neuromuscul Dis 16:69–73CrossRef
18.
Zurück zum Zitat McClung JM, McCord TJ, Ryan TE et al (2017) BAG3 (Bcl-2-Associated Athanogene-3) Coding Variant in Mice Determines Susceptibility to Ischemic Limb Muscle Myopathy by Directing Autophagy. Circulation 136:281–296CrossRef McClung JM, McCord TJ, Ryan TE et al (2017) BAG3 (Bcl-2-Associated Athanogene-3) Coding Variant in Mice Determines Susceptibility to Ischemic Limb Muscle Myopathy by Directing Autophagy. Circulation 136:281–296CrossRef
19.
Zurück zum Zitat Fichna JP, Potulska-Chromik A, Miszta P et al (2016) A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure. BBA Clin 7:1–7 Fichna JP, Potulska-Chromik A, Miszta P et al (2016) A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure. BBA Clin 7:1–7
20.
Zurück zum Zitat Ismail S, Schaffer AE, Rosti RO et al (2014) Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly. Gene 539:279–282CrossRef Ismail S, Schaffer AE, Rosti RO et al (2014) Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly. Gene 539:279–282CrossRef
23.
Zurück zum Zitat Weterman MA, Barth PG, van Spaendonck-Zwarts KY et al (2013) Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy. Brain 136(Pt 1):282–293 Weterman MA, Barth PG, van Spaendonck-Zwarts KY et al (2013) Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy. Brain 136(Pt 1):282–293
24.
Zurück zum Zitat Hedberg-Oldfors C, Oldfors A (2015) Polyglucosan storage myopathies. Mol Aspects Med 46:85–100CrossRef Hedberg-Oldfors C, Oldfors A (2015) Polyglucosan storage myopathies. Mol Aspects Med 46:85–100CrossRef
25.
Zurück zum Zitat Murialdo G, Piazzi A, Badolati G et al (2016) Oculo-auriculo-vertebral spectrum with myopathy and velopharyngeal insufficiency. A case report with a non-branchiomeric muscle biopsy. Pediatr Med Chir 38(2):121CrossRef Murialdo G, Piazzi A, Badolati G et al (2016) Oculo-auriculo-vertebral spectrum with myopathy and velopharyngeal insufficiency. A case report with a non-branchiomeric muscle biopsy. Pediatr Med Chir 38(2):121CrossRef
26.
Zurück zum Zitat Rienhoff HY Jr, Yeo CY, Morissette R et al (2013) A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. Am J Med Genet A 161A:2040–2046PubMed Rienhoff HY Jr, Yeo CY, Morissette R et al (2013) A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. Am J Med Genet A 161A:2040–2046PubMed
27.
Zurück zum Zitat Carr AS, Pelayo-Negro AL, Jaunmuktane Z et al (2015) Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. Neuromuscul Disord 25:511–515CrossRef Carr AS, Pelayo-Negro AL, Jaunmuktane Z et al (2015) Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. Neuromuscul Disord 25:511–515CrossRef
28.
Zurück zum Zitat Ennis J, Dyment DA, Michaud J, McMillan HJ (2015) Congenital Nemaline Myopathy: The Value of Magnetic Resonance Imaging of Muscle. Can J Neurol Sci 42:338–340CrossRef Ennis J, Dyment DA, Michaud J, McMillan HJ (2015) Congenital Nemaline Myopathy: The Value of Magnetic Resonance Imaging of Muscle. Can J Neurol Sci 42:338–340CrossRef
Metadaten
Titel
Mutations in genes associated with either myopathy or noncompaction
verfasst von
J. Finsterer, MD, PhD
C. Stollberger, MD
Publikationsdatum
20.04.2018
Verlag
Springer Medizin
Erschienen in
Herz / Ausgabe 8/2019
Print ISSN: 0340-9937
Elektronische ISSN: 1615-6692
DOI
https://doi.org/10.1007/s00059-018-4705-3

Weitere Artikel der Ausgabe 8/2019

Herz 8/2019 Zur Ausgabe

„Jeder Fall von plötzlichem Tod muss obduziert werden!“

17.05.2024 Plötzlicher Herztod Nachrichten

Ein signifikanter Anteil der Fälle von plötzlichem Herztod ist genetisch bedingt. Um ihre Verwandten vor diesem Schicksal zu bewahren, sollten jüngere Personen, die plötzlich unerwartet versterben, ausnahmslos einer Autopsie unterzogen werden.

Hirnblutung unter DOAK und VKA ähnlich bedrohlich

17.05.2024 Direkte orale Antikoagulanzien Nachrichten

Kommt es zu einer nichttraumatischen Hirnblutung, spielt es keine große Rolle, ob die Betroffenen zuvor direkt wirksame orale Antikoagulanzien oder Marcumar bekommen haben: Die Prognose ist ähnlich schlecht.

Schlechtere Vorhofflimmern-Prognose bei kleinem linken Ventrikel

17.05.2024 Vorhofflimmern Nachrichten

Nicht nur ein vergrößerter, sondern auch ein kleiner linker Ventrikel ist bei Vorhofflimmern mit einer erhöhten Komplikationsrate assoziiert. Der Zusammenhang besteht nach Daten aus China unabhängig von anderen Risikofaktoren.

Semaglutid bei Herzinsuffizienz: Wie erklärt sich die Wirksamkeit?

17.05.2024 Herzinsuffizienz Nachrichten

Bei adipösen Patienten mit Herzinsuffizienz des HFpEF-Phänotyps ist Semaglutid von symptomatischem Nutzen. Resultiert dieser Benefit allein aus der Gewichtsreduktion oder auch aus spezifischen Effekten auf die Herzinsuffizienz-Pathogenese? Eine neue Analyse gibt Aufschluss.

Update Kardiologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.