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Browse result for Primary familial hypertrophic cardiomyopathy

※ introduction

    Hypertrophic cardiomyopathy (HCM, or HOCM when obstructive) is a condition in which muscle tissues of the heart become thickened without an obvious cause. The parts of the heart most commonly affected are the interventricular septum and the ventricles. This results in the heart being less able to pump blood effectively and also may cause electrical conduction problems. Specifically, within the bundle branches that conduct impulses through the interventricular septum and into the Purkinje fibers, as these are responsible for the depolarization of contractile cells of both ventricles. People who have HCM may have a range of symptoms. People may be asymptomatic, or may have fatigue, leg swelling, and shortness of breath. It may also result in chest pain or fainting. Symptoms may be worse when the person is dehydrated. Complications may include heart failure, an irregular heartbeat, and sudden cardiac death. HCM is most commonly inherited in an autosomal dominant pattern. It is often due to mutations in certain genes involved with making heart muscle proteins. Other inherited causes of left ventricular hypertrophy may include Fabry disease, Friedreich's ataxia, and certain medications such as tacrolimus. Other considerations for causes of enlarged heart are athlete's heart and hypertension (high blood pressure). Making the diagnosis of HCM often involves a family history or pedigree, an electrocardiogram, echocardiogram, and stress testing. Genetic testing may also be done. HCM can be distinguished from other inherited causes of cardiomyopathy by its autosomal dominant pattern, whereas Fabry disease is X-linked, and Friedreich's ataxia is inherited in an autosomal recessive pattern. Treatment may depend on symptoms and other risk factors. Medications may include the use of beta blockers, verapamil or disopyramide. An implantable cardiac defibrillator may be recommended in those with certain types of irregular heartbeat. Surgery, in the form of a septal myectomy or heart transplant, may be done in those who do not improve with other measures. With treatment, the risk of death from the disease is less than one percent per year. HCM affects up to one in 200 people. People of all ages may be affected. The first modern description of the disease was by Donald Teare in 1958.

Reference
Wiki: Primary familial hypertrophic cardiomyopathy



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD01049O958179531
BAG3
BAG family molecular chaperone regulator 3
Homo sapiens
PTMD00500P025454000
LMNA
Prelamin-A/C [Cleaved into: Lamin-A/C ]
Homo sapiens
PTMD00518P085904634
MYL3
Myosin light chain 3
Homo sapiens
PTMD01064P094937168
TPM1
Tropomyosin alpha-1 chain
Homo sapiens
PTMD01525P159241832
DSP
Desmoplakin
Homo sapiens
PTMD01536P176611674
DES
Desmin
Homo sapiens
PTMD01627P453797139
TNNT2
Troponin T, cardiac muscle
Homo sapiens
PTMD01694P6803270
ACTC1
Actin, alpha cardiac muscle 1 [Cleaved into: Actin, alpha cardiac muscle 1, intermediate form]
Homo sapiens
PTMD01751Q145246331
SCN5A
Sodium channel protein type 5 subunit alpha
Homo sapiens
PTMD01131Q148964607
MYBPC3
Myosin-binding protein C, cardiac-type
Homo sapiens
PTMD01878Q9BR3957158
JPH2
Junctophilin-2 [Cleaved into: Junctophilin-2 N-terminal fragment ]
Homo sapiens
PTMD03005O7511211155
LDB3
LIM domain-binding protein 3
Homo sapiens
PTMD04088P115321756
DMD
Dystrophin
Homo sapiens
PTMD04130P128834625
MYH7
Myosin-7
Homo sapiens
PTMD04145P135334624
MYH6
Myosin-6
Homo sapiens
PTMD04944P3560988
ACTN2
Alpha-actinin-2
Homo sapiens
PTMD05384P504618048
CSRP3
Cysteine and glycine-rich protein 3
Homo sapiens
PTMD05493P521798736
MYOM1
Myomesin-1
Homo sapiens
PTMD06532Q134183611
ILK
Integrin-linked protein kinase
Homo sapiens
PTMD06676Q141261829
DSG2
Desmoglein-2
Homo sapiens
PTMD06704Q141922274
FHL2
Four and a half LIM domains protein 2
Homo sapiens
PTMD07462Q53GG527295
PDLIM3
PDZ and LIM domain protein 3
Homo sapiens
PTMD07741Q5T48128299
RBM20
RNA-binding protein 20
Homo sapiens
PTMD09203Q86YT657534
MIB1
E3 ubiquitin-protein ligase MIB1
Homo sapiens
PTMD11923Q999595318
PKP2
Plakophilin-2
Homo sapiens
PTMD14090Q9UGJ051422
PRKAG2
5'-AMP-activated protein kinase subunit gamma-2
Homo sapiens
PTMD14855Q9Y4J81837
DTNA
Dystrobrevin alpha
Homo sapiens