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==Overivew==
==Overivew==
'''Myxomatous degeneration''' refers to a pathological weakening of [[connective tissue]]. The term is most often used in the context of [[Mitral valve prolapse|mitral valve prolapse]], which is known more technically as "myxomatous degeneration of the mitral valve." <ref>Cotran RS, Kumar V, Fausto N, Nelso F, Robbins SL, Abbas AK. Robbins and Cotran pathologic basis of disease. 7th ed. Elsevier Saunders. St. Louis, Mo 2005 ISBN 0-7216-0187-1 </ref> It can also be used in refernce to degeneration of the aortic valve.
'''Myxomatous degeneration''' is a progressive, [[non-inflammatory]] disarray of the structure involved caused by a defect in the integrity of the structure, due to the alteration in the synthesis and [[remodelling]] of the tissue. Myxomatous is a term derived from the word [[Myxoma|Myxoma.]] [[Myxoma]] is derived from Greek word muxa, meaning mucus.[[Myxoma]] is a non-cancerous tumor growth, it contains mucus or gelatin like substance. The term is most often used in the context of [[Mitral valve prolapse]], which is known more technically as "Myxomatous degeneration of the mitral valve."  It can also be used in reference to [[degeneration]] of the [[aortic valve]]. [[Myxomatous degeneration]] of the [[cardiac valves]] (MDMV) stands for the non-inflammatory progressive disarray of the [[valve]] structure caused by a defect in the mechanical integrity of the leaflet due to the altered synthesis and/or [[remodeling]] by [[type VI collagen]]]. The gross morphologic features are characterized by voluminous and thickened [[leaflets]], in both longitudinal and transversal axes. This entity involves not only the valve but also the [[chordae tendineae]] that has also become [[thickened]], elongated, and sometimes ruptured.


==Pathophysiology==
==Pathophysiology==
The degeneration occurs in conjunction with an accumulation of [[dermatan sulfate]], a [[glycosaminoglycan]], within the connective tissue matrix of the valve. The exact mechanism is unknown.
The [[degeneration]] occurs in conjunction with an accumulation of [[dermatan sulfate]], a [[glycosaminoglycan]], within the [[connective tissue]][[  matrix ]]of the [[valve]]. The exact mechanism is unknown.


In many cases, the degeneration is limited to the [[Mitral valve|mitral valve]] and follows a benign course.  When associated with systemic diseases, like [[Marfan syndrome]], the degeneration is more extensive and involves other heart valves. The valves can become sufficiently distorted to cause [[Aortic insufficiency|insufficiency]] and [[Regurgitation (circulation)|regurgitation]].   
In many cases, the degeneration is limited to the [[Mitral valve|mitral valve]] and follows a benign course.  When associated with [[systemic diseases]], like [[Marfan syndrome]], the degeneration is more extensive and involves other[[ heart valves]]. The valves can become sufficiently distorted to cause [[Aortic insufficiency|insufficiency]] and [[Regurgitation (circulation)|regurgitation]].   
 
Deposition of excessive [[proteoglycans]] causes widening of the[[ fibrosa]], which extends towards basal aspects and also tends to involve the annulus and chords, which further leads to loss of [[collagen ]]and [[elastic tissue]].   
 
Myxomatous degeneration can occur in other organs like [[uterus]], where we can see myxomatous degeneration of [[uterine fibroids]].   


{{see also|Mitral valve prolapse}}
{{see also|Mitral valve prolapse}}
==Historical Perspective==
==Historical Perspective==
*[Disease name] was first discovered by [scientist name], a [nationality + occupation], in [year] during/following [event].
*Myxomatous Mitral Valve disease was first reported by Delabere Blaine in 1817 in dogs.<ref name="pmid223865883">{{cite journal| author=Borgarelli M, Buchanan JW| title=Historical review, epidemiology and natural history of[[ degenerative mitral valve disease]]. | journal=J Vet Cardiol | year= 2012 | volume= 14 | issue= 1 | pages= 93-101 | pmid=22386588 | doi=10.1016/j.jvc.2012.01.011 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22386588  }}</ref>
*In [year], [gene] mutations were first identified in the pathogenesis of [disease name].
*Myxomatous Degeneration of Mitral Valve is a [[genetic abnormality]] mapped to Xq28 gene.
*In [year], the first [discovery] was developed by [scientist] to treat/diagnose [disease name].
 
==Classification==
==Classification==
*[Disease name] may be classified according to [classification method] into [number] subtypes/groups:
*Myxomatous degeneration  may be classified as:
:*[group1]
**Primary
:*[group2]
**Secondary
:*[group3]
*Whitney in1967 classified Myxomatous[[ Mitral Valve Disease]] into 4 types based on the structures involved-<ref name="pmid223865883" />
*Other variants of [disease name] include [disease subtype 1], [disease subtype 2], and [disease subtype 3].
 
:* Type I,II- Small [[nodular thickening]] of[[ mitral leaflets ]]without [[chordae tendinae]] involvement
:* Type III-Severe thickening and [[ballooning ]]of valve cusps
:* Type IV-[[ Chordae tendinae]] thickening and Occasional [[rupture]]
 
==Pathophysiology==
==Pathophysiology==
*The pathogenesis of [disease name] is characterized by [feature1], [feature2], and [feature3].
*The pathogenesis of Myxomatous mitral valve degeneration  is characterized by [[Valvular ]]or [[chordal degeneration ]]with excesssive [[systolic movement of leaflet ]]defined by a prolapse in[[ Left atrium ]]>/2mm.
*The [gene name] gene/Mutation in [gene name] has been associated with the development of [disease name], involving the [molecular pathway] pathway.
*It can affect one or both [[leaflets]] and can affect one or[[ multiple scallops]].
*On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
*[[Degeneration ]]of[[ Mitral valve ]]is divided into two[[ phenotypes]]:<ref name="AntoineMantovani2018">{{cite journal|last1=Antoine|first1=Clemence|last2=Mantovani|first2=Francesca|last3=Benfari|first3=Giovanni|last4=Mankad|first4=Sunil V.|last5=Maalouf|first5=Joseph F.|last6=Michelena|first6=Hector I.|last7=Enriquez-Sarano|first7=Maurice|title=Pathophysiology of Degenerative Mitral Regurgitation|journal=Circulation: Cardiovascular Imaging|volume=11|issue=1|year=2018|issn=1941-9651|doi=10.1161/CIRCIMAGING.116.005971}}</ref>
*On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
 
* <u>[[Fibro Elastic Deficiency]]</u>:
 
**localised to one segment.
**involves ruptured [[chords]].
**Histologically- Myxomatous degeneration
**Macroscopically- Leaflet [[redundancy]] and thickening predominant on the flail segment.
**Reminder of the valve is thin and translucent.
**Patients present in older ages
 
* <u>Diffuse Myxomatous Degeneration:</u>
 
**[[Generalised]]
**[[Redundancy ]]and [[thickening ]]of both leaflets involving multiple segments
**[[Mitral regurgitation|.Mitral Regurgitation typically]] predominates in [[Mid late systole|mid-late  systole]].
**Severeity varies from mild to severe.
 
==Clinical Features:==
Patients can be [[asymptomatic]],or can have mild to severe symptoms.


==Clinical Features==   
Patients can have heart [[Murmur|murmur,]] [[cough]], [[dyspnea]], signs and symptoms of [[Congestive Heart Failure]], [[Arrythmias]].<br />
==Differentiating Myxomatous Mitral Valve Degeneration from other Diseases==
*Myxomatous degeneration of Mitral Valve must be differentiated from other diseases that cause [[Mitral valve regurgitation|Mitral Valve Regurgitation,]] such as:<ref>{{cite journal|year=2007|doi=10.1016/B978-1-4160-2971-7.X1000-8}}</ref>


==Differentiating [disease name] from other Diseases==
:*[[Ischemic Injury]] to Mitral Valve
*[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as:
:*[[Rheumatic Heart Disease]]
:*[Differential dx1]
:*[[Connective tissue disorder]]
:*[Differential dx2]
:*[Differential dx3]
   
   
==Epidemiology and Demographics==
==Epidemiology and Demographics==
* The prevalence of [disease name] is approximately [number or range] per 100,000 individuals worldwide.
* The prevalence of Myxomatous Mitral Valve Degeneration  in Canines, increases as age increase, and the prevalence especially in old, small breed dogs is 100%.
* In [year], the incidence of [disease name] was estimated to be [number or range] cases per 100,000 individuals in [location].
* It affects about 5% of the Human population.<ref>{{cite journal|year=2016|doi=10.1016/C2013-0-12761-4}}</ref>
   
   
===Age===
===Age and Gender===
*Patients of all age groups may develop [disease name].
 
* It is more common in Young females.
*[Disease name] is more commonly observed among patients aged [age range] years old.
* It is frequently symptomatic in males.
*[Disease name] is more commonly observed among [elderly patients/young patients/children].
===Gender===
*[Disease name] affects men and women equally.
*[Gender 1] are more commonly affected with [disease name] than [gender 2].
* The [gender 1] to [Gender 2] ratio is approximately [number > 1] to 1.
===Race===
*There is no racial predilection for [disease name].
*[Disease name] usually affects individuals of the [race 1] race.
*[Race 2] individuals are less likely to develop [disease name].


==Risk Factors==
==Risk Factors==
*Common risk factors in the development of [disease name] are [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].
*Common risk factors in the development of Myxomatous degeneration are Connective tissue disorders like [[Marfan's Syndrome]], [[Ehlers-Danlos syndrome]], and other conditions with collagen abnormalities.


== Natural History, Complications and Prognosis==
== Natural History, Complications and Prognosis==
*The majority of patients with [disease name] remain asymptomatic for [duration/years].  
*The majority of patients with Myxomatous degeneration of Mitral Valve are asymptomatic.
*Early clinical features include [manifestation 1], [manifestation 2], and [manifestation 3].
*Early clinical features include presence of a [[heart murmur.]]
*If left untreated, [#%] of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
*If left untreated,about 10% of patients with Myxomatous degeneration of Mitral Valve may progress to develop severe [[Mitral regurgitation]] requiring surgical repair of the valve.<ref>{{cite journal|year=2019|doi=10.1016/C2017-0-02974-9}}</ref>
*Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
*Common complications of Myxomatous degeneration of Mitral Valve include rupture of the chordae tendinae leading to [[acute mitral regurgitation]], [[Arrythmia|Arrythmias,]] Congestive [[Heart Failure]],[[Endocarditis]] ,rarely [[Sudden cardiac death]].
*Prognosis is generally [excellent/good/poor], and the [1/5/10­year mortality/survival rate] of patients with [disease name] is approximately [#%].
*Prognosis is generally good after [[Mitral Valve repair]].


== Diagnosis ==
== Diagnosis ==
===Diagnostic Criteria===
===Diagnostic Criteria===
*The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met:
* Currently there is no diagnostic criteria available.
:*[criterion 1]
 
:*[criterion 2]
:*[criterion 3]
:*[criterion 4]
=== Symptoms ===
=== Symptoms ===
*[Disease name] is usually asymptomatic.
*Myxomatous degeneration of mitral valve can be asymptomatic.
*Symptoms of [disease name] may include the following:
*Symptoms of Myxomatous degeneration of Mitral valve may include the following:
:*[symptom 1]
 
:*[symptom 2]
:*Apical Holosystolic murmur
:*[symptom 3]
:*Systolic click to mid late systolic murmur
:*[symptom 4]
:*[[Cough]] - due to [[Congestive heart failure|Heart failure]]
:*[symptom 5]
:*[[Dyspnea]]- [[Pulmonary edema]], [[Pulmonary Hypertension]].
:*[symptom 6]
:*[[Syncope]]- [[arrythmias]]
   
   
=== Physical Examination ===
=== Physical Examination===
*Patients with [disease name] usually appear [general appearance].
*Patients with Myxomatous degeneration of mitral valve usually present with [[Mitral valve prolapse|''Mitral Valve prolapse.'']]
*Physical examination may be remarkable for:
*Physical examination may be remarkable for:
:*[finding 1]
 
:*[finding 2]
:*[[Systolic click—murmur syndrome|Systolic click]] or [[Systolic click—murmur syndrome|mid-late systolic murmur]].
:*[finding 3]
:*[[Apical holosystolic murmur]]<ref>{{cite journal|year=2016|doi=10.1016/C2013-0-12761-4}}</ref>
:*[finding 4]
:*[finding 5]
:*[finding 6]


=== Laboratory Findings ===
=== Laboratory Findings ===
*There are no specific laboratory findings associated with [disease name].
*There are no specific laboratory findings associated with Myxomatous degeneration of [[Mitral valve]]


*A  [positive/negative] [test name] is diagnostic of [disease name].
*An [elevated/reduced] concentration of [serum/blood/urinary/CSF/other] [lab test] is diagnostic of [disease name].
*Other laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
===Imaging Findings===
===Imaging Findings===
*There are no [imaging study] findings associated with [disease name].
 
*2D Echocardiography is the imaging modality of choice.
*[Imaging study 1] is the imaging modality of choice for [disease name].
*[[Transesophageal Echo]]- shows Mitral valve prolapse and Mitral valve thickening.<ref>{{cite journal|year=2010|doi=10.1016/B978-1-4160-6231-8.X0001-3}}</ref>
*On [imaging study 1], [disease name] is characterized by [finding 1], [finding 2], and [finding 3].
 
*[Imaging study 2] may demonstrate [finding 1], [finding 2], and [finding 3].
=== Other Diagnostic Studies===
*[[Xray Ches]]<nowiki/>t- can show [[cardiomegaly.]]
=== Other Diagnostic Studies ===
*Electrocardiogram [[ECG|(ECG]])- non invasive test, Can help in detecting [[Cardiac arrhythmia|arrythmias]], [[Left atrial enlargement]], [[Left ventricular hypertrophy|Left Ventricle hypertrophy]].
*[Disease name] may also be diagnosed using [diagnostic study name].
*[[CT Scan]]-non invasive imaging test,Can measure the degree of leaflet displacement and relation between valve [[leaflets]] and annulus.
*Findings on [diagnostic study name] include [finding 1], [finding 2], and [finding 3].
*[[MRI]]- non invasive, can provide information on the severeity of [[Mitral Regurgitation]]<ref>{{cite journal|year=2010|doi=10.1016/B978-1-4160-6231-8.X0001-3}}</ref>.


== Treatment ==
== Treatment ==
=== Medical Therapy ===
=== Medical Therapy ===
*There is no treatment for [disease name]; the mainstay of therapy is supportive care.
*There is no medical therapy for Myxomatous degeneration of Mitral Valve, the mainstay of therapy is supportive care.
   
   
*The mainstay of therapy for [disease name] is [medical therapy 1] and [medical therapy 2].
*[[Diuretics]]- if symptoms of Heart failure
*[Medical therapy 1] acts by [mechanism of action 1].
*[[Angiotensin Converting Enzyme Inhibitor|ACE inhibitors]]
*Response to [medical therapy 1] can be monitored with [test/physical finding/imaging] every [frequency/duration].
*[[Beta blocker|β blockers]]
*[[Vasodilators]]
   
   
=== Surgery ===
=== Surgery===
*Surgery is the mainstay of therapy for [disease name].
*Surgery is the mainstay of therapy for Myxomatous degeneration of Mitral Valve.
*[Surgical procedure] in conjunction with [chemotherapy/radiation] is the most common approach to the treatment of [disease name].
*[[Mitral valve repair|Mitral Valve repair]] is the preferred surgical technique.<ref>{{cite journal|year=2010|doi=10.1016/B978-1-4160-6231-8.X0001-3}}</ref>
*[Surgical procedure] can only be performed for patients with [disease stage] [disease name].
*[[Mitral valve repair]] when compared to replacement improves survival, [[Left ventricular function]], and decreased chance of reoperation.
*[[Mitral valve replacement|Mitral Valve replacement]] can also be done.
   
   
=== Prevention ===
=== Prevention ===
*There are no primary preventive measures available for [disease name].
*There are no primary preventive measures available for Myxomatous degeneration of [[Mitral valve|Mitral Valve]].
*Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
 
*Once diagnosed and successfully treated, patients with [disease name] are followed-up every [duration]. Follow-up testing includes [test 1], [test 2], and [test 3].


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}


 
<br />
{{Electrocardiography}}
{{Electrocardiography}}
{{Circulatory system pathology}}
{{Circulatory system pathology}}

Latest revision as of 19:25, 6 July 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mahshid Mir, M.D. [2] Shaik Aisha sultana, [3]

Overivew

Myxomatous degeneration is a progressive, non-inflammatory disarray of the structure involved caused by a defect in the integrity of the structure, due to the alteration in the synthesis and remodelling of the tissue. Myxomatous is a term derived from the word Myxoma. Myxoma is derived from Greek word muxa, meaning mucus.Myxoma is a non-cancerous tumor growth, it contains mucus or gelatin like substance. The term is most often used in the context of Mitral valve prolapse, which is known more technically as "Myxomatous degeneration of the mitral valve." It can also be used in reference to degeneration of the aortic valve. Myxomatous degeneration of the cardiac valves (MDMV) stands for the non-inflammatory progressive disarray of the valve structure caused by a defect in the mechanical integrity of the leaflet due to the altered synthesis and/or remodeling by type VI collagen]. The gross morphologic features are characterized by voluminous and thickened leaflets, in both longitudinal and transversal axes. This entity involves not only the valve but also the chordae tendineae that has also become thickened, elongated, and sometimes ruptured.

Pathophysiology

The degeneration occurs in conjunction with an accumulation of dermatan sulfate, a glycosaminoglycan, within the connective tissuematrix of the valve. The exact mechanism is unknown.

In many cases, the degeneration is limited to the mitral valve and follows a benign course. When associated with systemic diseases, like Marfan syndrome, the degeneration is more extensive and involves otherheart valves. The valves can become sufficiently distorted to cause insufficiency and regurgitation.

Deposition of excessive proteoglycans causes widening of thefibrosa, which extends towards basal aspects and also tends to involve the annulus and chords, which further leads to loss of collagen and elastic tissue.

Myxomatous degeneration can occur in other organs like uterus, where we can see myxomatous degeneration of uterine fibroids.

See also: Mitral valve prolapse

Historical Perspective

  • Myxomatous Mitral Valve disease was first reported by Delabere Blaine in 1817 in dogs.[1]
  • Myxomatous Degeneration of Mitral Valve is a genetic abnormality mapped to Xq28 gene.

Classification

  • Myxomatous degeneration may be classified as:
    • Primary
    • Secondary
  • Whitney in1967 classified MyxomatousMitral Valve Disease into 4 types based on the structures involved-[1]

Pathophysiology

    • localised to one segment.
    • involves ruptured chords.
    • Histologically- Myxomatous degeneration
    • Macroscopically- Leaflet redundancy and thickening predominant on the flail segment.
    • Reminder of the valve is thin and translucent.
    • Patients present in older ages
  • Diffuse Myxomatous Degeneration:

Clinical Features:

Patients can be asymptomatic,or can have mild to severe symptoms.

Patients can have heart murmur, cough, dyspnea, signs and symptoms of Congestive Heart Failure, Arrythmias.

Differentiating Myxomatous Mitral Valve Degeneration from other Diseases

Epidemiology and Demographics

  • The prevalence of Myxomatous Mitral Valve Degeneration in Canines, increases as age increase, and the prevalence especially in old, small breed dogs is 100%.
  • It affects about 5% of the Human population.[4]

Age and Gender

  • It is more common in Young females.
  • It is frequently symptomatic in males.

Risk Factors

  • Common risk factors in the development of Myxomatous degeneration are Connective tissue disorders like Marfan's Syndrome, Ehlers-Danlos syndrome, and other conditions with collagen abnormalities.

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Criteria

  • Currently there is no diagnostic criteria available.

Symptoms

  • Myxomatous degeneration of mitral valve can be asymptomatic.
  • Symptoms of Myxomatous degeneration of Mitral valve may include the following:

Physical Examination

  • Patients with Myxomatous degeneration of mitral valve usually present with Mitral Valve prolapse.
  • Physical examination may be remarkable for:

Laboratory Findings

  • There are no specific laboratory findings associated with Myxomatous degeneration of Mitral valve

Imaging Findings

  • 2D Echocardiography is the imaging modality of choice.
  • Transesophageal Echo- shows Mitral valve prolapse and Mitral valve thickening.[7]

Other Diagnostic Studies

Treatment

Medical Therapy

  • There is no medical therapy for Myxomatous degeneration of Mitral Valve, the mainstay of therapy is supportive care.

Surgery

Prevention

  • There are no primary preventive measures available for Myxomatous degeneration of Mitral Valve.

References

  1. ↑ 1.0 1.1 Borgarelli M, Buchanan JW (2012). "Historical review, epidemiology and natural history of[[ degenerative mitral valve disease]]". J Vet Cardiol. 14 (1): 93–101. doi:10.1016/j.jvc.2012.01.011. PMID 22386588. URL–wikilink conflict (help)
  2. ↑ Antoine, Clemence; Mantovani, Francesca; Benfari, Giovanni; Mankad, Sunil V.; Maalouf, Joseph F.; Michelena, Hector I.; Enriquez-Sarano, Maurice (2018). "Pathophysiology of Degenerative Mitral Regurgitation". Circulation: Cardiovascular Imaging. 11 (1). doi:10.1161/CIRCIMAGING.116.005971. ISSN 1941-9651.
  3. ↑ . 2007. doi:10.1016/B978-1-4160-2971-7.X1000-8. Missing or empty |title= (help)
  4. ↑ . 2016. doi:10.1016/C2013-0-12761-4. Missing or empty |title= (help)
  5. ↑ . 2019. doi:10.1016/C2017-0-02974-9. Missing or empty |title= (help)
  6. ↑ . 2016. doi:10.1016/C2013-0-12761-4. Missing or empty |title= (help)
  7. ↑ . 2010. doi:10.1016/B978-1-4160-6231-8.X0001-3. Missing or empty |title= (help)
  8. ↑ . 2010. doi:10.1016/B978-1-4160-6231-8.X0001-3. Missing or empty |title= (help)
  9. ↑ . 2010. doi:10.1016/B978-1-4160-6231-8.X0001-3. Missing or empty |title= (help)


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