Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Erbliche Herzerkrankungen

In der Rubrik der hereditären herzerkrankungen werden alle Herzerkrankungen erfasst die eine genetische Ursache haben. Das Spektrum der genetischen Ursache reicht von Mutationen, die unmittelbar eine Krankheit auslösen können, bis zu genetischen Variationen bei denen in epidemiologischen Studien ein Zusammenhang mit Herzerkrankungen festgestellt wurde.

Gliederung

Genetisch bedingte Erkrankungen
Erbliche Augenerkrankungen und Sehstörungen
Erbliche Blutkrankheiten und Gerinnungsstörungen
Erbliche Bronchial- und Lungenerkrankungen
Erbliche Erkrankungen im Hals-Nasen-Ohren-Bereich
Erbliche Fehlbildungen
Erbliche Gefäßerkrankungen
Erbliche Herzerkrankungen
Arteriosklerose
APOB
APOE
HABP2
LDLR
LPA
MTHFR
PON1
SLC3A1
Hereditäre Arrhythmie
Long-QT-Syndrom
Long-QT-Syndrom 01
KCNQ1
Long-QT-Syndrom 02
KCNH2
Long-QT-Syndrom 13
KCNJ5
Short-QT-Syndrom
Short-QT-Syndrom 1
KCNH2
Short-QT-Syndrom 2
KCNQ1
Short-QT-Syndrom 3
KCNJ2
Hereditäre Kardiomyopathie
Dilatative Kardiomyopathie 1A
LMNA
Malouf-Syndrom
LMNA
Erbliche Infektionsanfälligkeiten
Erbliche Knochenerkrankungen
Erbliche Lebererkrankungen
Erbliche Nervenerkrankungen
Erbliche Nierenerkrankungen
Erbliche Pankreaserkrankungen
Erbliche Stoffwechselerkrankungen
Erbliche Tumorerkrankungen
Erbliche endokrinologische Erkrankungen
Erbliche immunologische Erkrankungen
Erblicher Bluthochdruck

Referenzen:

1.

Mounkes LC et. al. (2005) Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.

[^]
2.

Meune C et. al. (2006) Primary prevention of sudden death in patients with lamin A/C gene mutations.

[^]
3.

Zareba W et. al. (1998) Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group.

[^]
4.

Priori SG et. al. (1999) Low penetrance in the long-QT syndrome: clinical impact.

[^]
5.

Berthet M et. al. (1999) C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.

[^]
6.

Jongbloed RJ et. al. (1999) Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

[^]
7.

Splawski I et. al. (2000) Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

[^]
8.

Yang P et. al. (2002) Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.

[^]
9.

Westenskow P et. al. (2004) Compound mutations: a common cause of severe long-QT syndrome.

[^]
10.

Tester DJ et. al. (2005) Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

[^]
11.

Millat G et. al. (2006) Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

[^]
12.

Ackerman MJ et. al. (1998) A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family.

[^]
13.

Priori SG et. al. (1999) Genetic and molecular basis of cardiac arrhythmias: impact on clinical management parts I and II.

[^]
14.

Priori SG et. al. (1999) Genetic and molecular basis of cardiac arrhythmias: impact on clinical management part III.

[^]
15.

Napolitano C et. al. (2005) Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

[^]
16.

Imboden M et. al. (2006) Female predominance and transmission distortion in the long-QT syndrome.

[^]
17.

Johnson JN et. al. (2008) Prevalence of early-onset atrial fibrillation in congenital long QT syndrome.

[^]
18.

Arbour L et. al. (2008) A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.

[^]
19.

BARRY M et. al. (1962) Familial cardiomyopathy.

[^]
20.

BISHOP JM et. al. (1962) Cardiomyopathy in four members of a family.

[^]
21.

BIOERCK G et. al. (1964) FAMILIAL CARDIOMYOPATHIES.

[^]
22.

BOYD DL et. al. (1965) THREE FAMILIES WITH FAMILIAL CARDIOMYOPATHY.

[^]
23.

Elliott JF et. al. (2003) Autoimmune cardiomyopathy and heart block develop spontaneously in HLA-DQ8 transgenic IAbeta knockout NOD mice.

[^]
24.

None (1949) Familial cardiomegaly.

[^]
25.

Gupta P et. al. (2010) Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption.

[^]
26.

Levitas A et. al. (2010) Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.

[^]
27.

None (2011) Contribution of acquired factors to the pathogenesis of dilated cardiomyopathy. -The cause of dilated cardiomyopathy: genetic or acquired? (Acquired-Side)-.

[^]
28.

Itoh T et. al. (2001) Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome.

[^]
29.

Miller MD et. al. (2001) Diagnostic accuracy of screening electrocardiograms in long QT syndrome I.

[^]
30.

Kimbrough J et. al. (2001) Clinical implications for affected parents and siblings of probands with long-QT syndrome.

[^]
31.

None (2003) The long-QT syndrome--bedside to bench to bedside.

[^]
32.

Priori SG et. al. (2003) Risk stratification in the long-QT syndrome.

[^]
33.

GAMSTORP I et. al. (1964) CONGENITAL CARDIAC ARRHYTHMIA.

[^]
34.

None (1965) CONGENITAL CARDIAC ARRHYTHMIA.

[^]
35.

Gouas L et. al. (2005) Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.

[^]
36.

None (1993) Response.

[^]
37.

Chapon F et. al. (1989) [Familial myopathy with "cytoplasmic body" (or "spheroid") type inclusions, disclosed by respiratory insufficiency].

[^]
38.

Edström L et. al. (1980) A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments.

[^]
39.

Porte A et. al. (1980) Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells.

[^]
40.

None (1995) Desmin-related neuromuscular disorders.

[^]
41.

Ariza A et. al. (1995) Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle.

[^]
42.

Horowitz SH et. al. (1994) Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship.

[^]
43.

Abe K et. al. (1993) Dominantly inherited cytoplasmic body myopathy in a Japanese kindred.

[^]
44.

Vajsar J et. al. (1993) Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments.

[^]
45.

Messina DN et. al. (1997) Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.

[^]
46.

Barohn RJ et. al. (1998) Overview of distal myopathies: from the clinical to the molecular.

[^]
47.

Goldfarb LG et. al. (1998) Missense mutations in desmin associated with familial cardiac and skeletal myopathy.

[^]
48.

Muñoz-Mármol AM et. al. (1998) A dysfunctional desmin mutation in a patient with severe generalized myopathy.

[^]
49.

Sjöberg G et. al. (1999) A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.

[^]
50.

Saavedra-Matiz CA et. al. () Linkage of hereditary distal myopathy with desmin accumulation to 2q.

[^]
51.

Melberg A et. al. (1999) Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q.

[^]
52.

Park KY et. al. (2000) Desmin splice variants causing cardiac and skeletal myopathy.

[^]
53.

Bushby KM et. al. (2003) The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002.

[^]
54.

Kaminska A et. al. (2004) Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.

[^]
55.

Selcen D et. al. (2004) Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.

[^]
56.

Ferreiro A et. al. (2004) Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

[^]
57.

Shelton GD et. al. (2004) Myofibrillar myopathy with desmin accumulation in a young Australian Shepherd dog.

[^]
58.

Bär H et. al. (2007) Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.

[^]
59.

Bergman JE et. al. () Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.

[^]
60.

Pica EC et. al. (2008) Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.

[^]
61.

Kuhl A et. al. (2008) Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3.

[^]
62.

Piñol-Ripoll G et. al. (2009) Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.

[^]
63.

van Tintelen JP et. al. (2009) Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.

[^]
64.

Otten E et. al. (2010) Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks.

[^]
65.

van Spaendonck-Zwarts KY et. al. (2011) Desmin-related myopathy.

[^]
66.

Greenberg SA et. al. (2012) Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics.

[^]
67.

Hedberg C et. al. (2012) Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.

[^]
68.

Brodehl A et. al. (2013) The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.

[^]