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Browse result for 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: Familial hypertrophic cardiomyopathy



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00518P085904634
MYL3
Myosin light chain 3
Homo sapiens
PTMD00896P182067414
VCL
Vinculin
Homo sapiens
PTMD00552P194297137
TNNI3
Troponin I, cardiac muscle
Homo sapiens
PTMD00665Q0ZGT291624
NEXN
Nexilin
Homo sapiens
PTMD01064P094937168
TPM1
Tropomyosin alpha-1 chain
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
PTMD01131Q148964607
MYBPC3
Myosin-binding protein C, cardiac-type
Homo sapiens
PTMD01878Q9BR3957158
JPH2
Junctophilin-2 [Cleaved into: Junctophilin-2 N-terminal fragment ]
Homo sapiens
PTMD02559O152738557
TCAP
Telethonin
Homo sapiens
PTMD04056P109164633
MYL2
Myosin regulatory light chain 2, ventricular/cardiac muscle isoform
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
PTMD05919P633167134
TNNC1
Troponin C, slow skeletal and cardiac muscles
Homo sapiens
PTMD06724Q143152318
FLNC
Filamin-C
Homo sapiens
PTMD07277Q2V2M980206
FHOD3
FH1/FH2 domain-containing protein 3
Homo sapiens
PTMD08383Q6TFL454800
KLHL24
Kelch-like protein 24
Homo sapiens
PTMD08964Q86TC984665
MYPN
Myopalladin
Homo sapiens
PTMD11457Q96L1212597
CALR3
Calreticulin-3
Homo sapiens
PTMD12656Q9H1R385366
MYLK2
Myosin light chain kinase 2, skeletal/cardiac muscle
Homo sapiens
PTMD13227Q9NPC651778
MYOZ2
Myozenin-2
Homo sapiens
PTMD14090Q9UGJ051422
PRKAG2
5'-AMP-activated protein kinase subunit gamma-2
Homo sapiens
PTMD01400E9Q40120191
Ryr2
Ryanodine receptor 2
Mus musculus