Symptoma

Ehlers-Danlos Syndrome Cardiac-Valvular Type

Acronym EDSCV Synonyms Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Professor Loeys is an active reviewer on 11 international journals, has made 68 book contributions and has 118 Abstracts, posters, platform presentations and invited lectures. [books.google.de]

When the first two major criteria are present in the individual at birth or during early childhood or when the first and third major criteria are present in adolescents and adults, mcEDS is suggested. [news-medical.net]

Patients present with varying degrees of hyperelastic skin, joint hypermobility, and tissue fragility (including that of vasculature). [amboss.com]

View Video: Gastrointestinal disorders and hypermobility Presenter Dr Adam Farmer, Consultant Gastroenterologist, University Hospitals of North Midlands Summary Disorders of the digestive system and hypermobility. [ehlers-danlos.org]

  • Inguinal Hernia

    Affiliated tissues include skin and bone, and related phenotypes are pectus excavatum and inguinal hernia UniProtKB/Swiss-Prot : 76 Ehlers-Danlos syndrome, cardiac valvular type: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders [malacards.org]

    Symptoms - Ehlers-Danlos syndrome- cardiac valvular form * Dislocations * Hypermobile small joints * Muscle tears * Tendon tears * Inguinal hernia * Scarred skin * Easy bruising * Thin skin * Hyperextensible skin * Myopia * Astigmatism * Systolic murmur [checkorphan.org]

    Surface : Inguinal hernias (10-20%), umbilical hernias Epidermal: Hyperelastic skin, white-surfaced and wrinked “cigarette-paper” scars, purplish keloids or violaceous/brown macules, enhanced skin fragility with gaping wounds after trauma, molluscoid [kinderggnome.biz]

    hernia 0000023 Joint laxity Joint instability Lax joints Loose-jointedness Loosejointedness [ more ] 0001388 Mitral regurgitation 0001653 Mitral valve prolapse 0001634 Pectus excavatum Funnel chest 0000767 Pes planus Flat feet Flat foot [ more ] 0001763 [rarediseases.info.nih.gov]

    hernia) Protrusion of intestine through a weak point in the muscles surrounding the navel (umbilical hernia) Progeroid type: Wasting of scar tissue on skin Reduced bone mass An aged appearance due to: Formation of wrinkles on facial skin Sparse hair [dovemed.com]

  • Weight Gain

    A burning sensation in the mouth, dizziness, palpitations, pre-syncope (i.e. dizzy or almost fainting) intestinal pain in the stomach, bladder pain Chronic fatigue, • feeling cold (common), feeling hot, unexplained sweats, weight gain • Itchiness that [invisibleillnessforum.com]

  • Easy Bruising

    Possible diagnosis of EDS type VIII: Clinical features of EDS VIII such as hyperextensible joints, atrophic scarring, and easy bruising can often overlap with other forms of EDS. [uwcpdx.org]

    Hyperextensibility of the skin, easy bruising, tissue fragility, hypotonia, kyphoscoliosis have also been reported. Structural cardiovascular alterations have been described in cases of classical and hypermobile EDS [ 4 ]. [ijponline.biomedcentral.com]

    Easy bruising is common. Joint hypermobility is the primary clinical manifestation. [nature.com]

    Symptoms - Ehlers-Danlos syndrome- cardiac valvular form * Dislocations * Hypermobile small joints * Muscle tears * Tendon tears * Inguinal hernia * Scarred skin * Easy bruising * Thin skin * Hyperextensible skin * Myopia * Astigmatism * Systolic murmur [checkorphan.org]

    Other symptoms may include abnormally stretchy (hyperextensible) skin, easy bruising, fragile skin, abnormal wound healing resulting in “cigarette paper” (atrophic) scars, low muscle tone (hypotonia), lower than normal bone mineral density (radiologically [diseaseinfosearch.org]

  • Regurgitation

    EDSCV is an autosomal recessive disease characterized by mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency, in addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation. [uniprot.org]

    Severe aortic regurgitation in Ehlers-Danlos syndrome type IV Statistics from Altmetric.com Images in cardiology A 47 year old white man was hospitalised for cardiac examination. [heart.bmj.com]

    In cases of acute severe mitral regurgitation, emergent surgical intervention is indicated. [karger.com]

    Aortic regurgitation, mitral valve prolapse and mitral regurgitation occur with increased frequency in patients with Marfan syndrome, Loeys-Dietz syndrome and other connective tissue disorders, including EDS. [ijponline.biomedcentral.com]

  • Intestinal Perforation

    The patient’s clinical features (panels D and E) together with his family history (his father died from a distended abdomen after cholecystectomy, a spontaneous intestinal perforation caused his brother’s death, and his sister died suddenly of a ruptured [heart.bmj.com]

    In addition, skin of the hands and feet may appear prematurely aged (acrogeria). vEDS is particularly associated with arterial dissection and rupture, intestinal perforation, and uterine rupture. [rarediseases.org]

  • Mitral Valve Prolapse

    EDSCV is an autosomal recessive disease characterized by mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency, in addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation. [uniprot.org]

    The consistent association of abnormal production of type III collagen and mitral valve prolapse in this family suggests that this abnormality of collagen may give rise to mitral valve prolapse. Footnotes [circ.ahajournals.org]

    References Boudoulas H, Wooley CF (eds): Mitral Valve Prolapse and the Mitral Valve Prolapse Syndrome. Mount Kisco, Futura, 1998. [karger.com]

    mitral valve prolapse, aortic aneurysm, and dissection), the musculoskeletal system (e.g., tall stature with disproportionately long extremities, joint hypermobility), and the eyes (e.g., subluxation of the lens of the eye ). [amboss.com]

  • Heart Disease

    Her clinical work and research interests lie in the area of adults with congenital heart defects, with special attention to the aortic valve defects and aortic pathology and pregnancy in people with heart disease. [books.google.de]

    disease (such as mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse) * Chronic fatigue* [peakshow.wordpress.com]

    Lang RM, Tsang W, Weinert L, et al: Valvular heart disease. The value of 3-dimensional echocardiography. J Am Coll Cardiol 2011;58:1933-1944. [karger.com]

    Disease Ana Morales, Dawn C. [nature.com]

  • Hyperlaxity

    […] caused by mutations in the SLC39A13 gene, encoding the membrane-bound zinc transporter SLC39A13. 37 The RIN2-syndrome is characterized by severe progressive scoliosis, progressive facial coarsening, gingival hypertrophy, sparse hair, and skin and joint hyperlaxity [nature.com]

  • Thin Skin

    Symptoms - Ehlers-Danlos syndrome- cardiac valvular form * Dislocations * Hypermobile small joints * Muscle tears * Tendon tears * Inguinal hernia * Scarred skin * Easy bruising * Thin skin * Hyperextensible skin * Myopia * Astigmatism * Systolic murmur [checkorphan.org]

    skin Dominant C1S, C1R Peridontal, Type VIII Musculocontractural Type Craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, hypotonia, thin skin, easy bruising, atrophic scarring, joint hypermobility [uwcpdx.org]

    skin transparent skin thin nose protruding eyes thin lips sunken cheeks small chin collapsed lung heart valve problems Doctors may use a series of tests to diagnose EDS (except for hEDS), or rule out other similar conditions. [healthline.com]

    The condition is characterized by thin skin, fragile arteries, and organs prone to rupture, and reduced subcutaneous fat Kyphoscoliotic type : It is caused by mutation(s) in the PLOD1 gene, and the condition is characterized by low muscle tone at birth [dovemed.com]

    skin 0000963 Showing of 15 Last updated: 7/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

  • Cutis Laxa

    cutis laxa, or OHS, is caused by mutations in ATP7A and was discussed earlier. [nature.com]

    Cutis laxa. Superficially, the stretchy skin found in most forms of EDS may be confused with cutis laxa type 1 and type 2, as stretchy skin is also a feature of these conditions. [forgottendiseases.org]

    laxa Bruising Autosomal recessive Procollagen N-peptidase One that is not incorporated into this schema is known as the occipital horn syndrome. [rarediseasesindia.org]

    Cutis laxa. Pseudoxanthoma elasticum. Other causes of joint hypermobility - eg, benign joint hypermobility syndrome (BJHS), Marfan's syndrome, osteogenesis imperfecta [ 16 ]. Fibromyalgia. Chronic fatigue syndrome. [patient.info]

  • Sweating

    […] and excessive sweating* Delayed gastric emptying* Bloating after meals* Nausea* Vomiting* Abdominal pain* Diarrhea* Constipation* Bladder dysfunction* Polyuria ( excessive urination)* Blurred vision Tunnel vision Fatigue (which can be disabling)* Sleep [peakshow.wordpress.com]

    […] fainting (syncope), extreme fatigue for no reason, low blood pressure, periods of poor word recall/focus called brain fog (often misdiagnosed as ADHD), sensitivity to heat or cold, lower extremity mottling/turning purple or blue on standing, abnormal sweating [kinderggnome.biz]

    She also finds that CBT (cognitive behavioural therapy) and hypnosis, which she practises (and teaches), help This can lead to rapid heartbeat, dizziness, excessive sweating and an inability to cope with heat. [dailymail.co.uk]

    A burning sensation in the mouth, dizziness, palpitations, pre-syncope (i.e. dizzy or almost fainting) intestinal pain in the stomach, bladder pain Chronic fatigue, • feeling cold (common), feeling hot, unexplained sweats, weight gain • Itchiness that [invisibleillnessforum.com]

  • Skin Tear

    (tearing of the skin), stretchy skin, easy bruising, joint hypermobility Recessive ADAMTS2 Dermatosparaxis, Type VIIC Cardiac-Valvular Form Joint hypermobility, skin hyperextensibility, cardiac valvular defects Recessive COL1A2 Comprehensive EDS Panel [uwcpdx.org]

    Major criteria Extreme skin fragility with congenital or postnatal skin tears. Characteristic craniofacial features. Redundant, almost lax skin, with excessive skin folds at wrists and ankles. Increased palmar wrinkling. [patient.info]

Sometimes, a family doctor may hear a small heart murmur while listening to the heart, but since it is such a minor heart murmur and there are no symptoms or limitations, no workup or evaluation is necessary. [badaorta.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Treatment is according to symptoms. [ehlers-danlos.org]

Current treatment options for EDS include: physical therapy (used to rehabilitate those with joint and muscle instability) surgery to repair damaged joints drugs to minimize pain Additional treatment options may be available depending on the amount of [healthline.com]

Treatment Prognosis References: [10] [13] [14] [15] [3] [#8376} [amboss.com]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Blood Pressure : Home Testing * Home Blood Pressure Tests * Home Blood Pressure Monitors * Home Heart Tests * Heart Health: Home Testing: * Heart Rate Monitors * Irregular Heartbeat Detection * Heart Electrocardiogram (ECG) * Home Cholesterol Tests Prognosis [checkorphan.org]

Treatment Prognosis References: [10] [13] [14] [15] [3] [#8376} [amboss.com]

Prognosis: The outlook for individuals with EDS depends on the type of EDS with which they have been diagnosed. Symptoms vary in severity, even within one sub-type, and the frequency of complications changes on an individual basis. [peakshow.wordpress.com]

The prognosis with this type is poor. Sudden death can occur after visceral perforation or after the rupture of a large vessel, most commonly an abdominal and splenic vessel. [emedicine.medscape.com]

Etiology Marfan syndrome Mutation of fibrillin-1 gene (FBN1) on chromosome 15 defective connective tissue microfibrils defective elastin Autosomal dominant inheritance pattern with variable penetrance Ehlers-Danlos syndrome Various mutations in genes [amboss.com]

[…] definition comprises a group of connective tissue disorder involving collagen synthesis and structure that affects the skin joints blood vessels organs Epidemiology incidence relatively rare hypermobility Ehlers-Danlos syndrome (EDS) is the most common type Etiology [medbullets.com]

Etiology EDS type IV is associated with heterozygous mutations in the COL3A1 gene located on the long arm of Chromosome 2, which encodes type III pro-collagen, a part of vessels and organs structure. [path.upmc.edu]

These patients, beyond cardiac findings, show hyperextensive joints without any other stigmata of Marfan syndrome or EDS, suggesting an etiology due to an undefined collagen disorder [ 9 ]. [ijponline.biomedcentral.com]

Blue sclera, short fingers, and short statue are also common in this form of EDS. 4 Potential Etiologies Ehlers-Danlos is said to be a genetic disorder. [morphopedics.wikidot.com]

Introduction Clinical definition comprises a group of connective tissue disorder involving collagen synthesis and structure that affects the skin joints blood vessels organs Epidemiology incidence relatively rare hypermobility Ehlers-Danlos syndrome [medbullets.com]

Epidemiology Frequency The prevalence of Ehlers-Danlos syndrome (EDS) is reported to be 1 case in approximately 400,000 people, but mild or incomplete forms appear to be underdiagnosed and more common than other forms. [emedicine.medscape.com]

Epidemiology of Ehlers-Danlos syndromes [ 4 ] Prevalence of EDS is usually quoted as about 1/5,000 for all types, with hEDS hypermobility type accounting for about half of all registered cases: however, hEDS is an underdiagnosed condition; a frequency [patient.info]

Epidemiologic features: the Framingham Study. Am Heart J 1983;106:571-576. Ohara N, Mikajima T, Kato H: Mitral valve prolapse in childhood: the incidence and clinical presentation in different age groups. Acta Paediatr Jpn 1991;33:467-475. [karger.com]

Surgical inspection of the mitral valve at the time of surgery has contributed to the etiology, pathophysiology and imaging principles already mentioned, and provided the basis for new types of in vivo clinical pathophysiological correlates [ 1, 2 ]. [karger.com]

Pathophysiology: There are three different mechanisms by which EDS traits are produced 6. The first of these features is a deficiency of collagen-producing enzymes, such as lysyl-hydroxylase and procollagen peptidase. [rarediseasesindia.org]

Clinical recognition of the various types of Ehlers-Danlos syndrome is important, which is particularly true for the vascular type, as it is associated with arterial rupture and visceral perforation, with possible life-threatening consequences. [10] Pathophysiology [emedicine.medscape.com]

In additional, there are several steps you can take to prevent injury. [healthline.com]

Primary prevention includes genetic counseling, while tertiary prevention involves regular monitoring for complications. [amboss.com]

Vitamin C prevents bruising and promotes wound healing and healthy gums. [chronicpainpartners.com]

Prevention - Ehlers-Danlos syndrome- cardiac valvular form Not supplied. [checkorphan.org]

Ehlers-Danlos Syndrome is a genetic condition, and therefore, there are no methods or guidelines available to prevent its occurrence. [dovemed.com]