A Case of Young MVP was evaluated meticulously and diagnosed as a case of Ehlers Danlos Syndrome

1. Case Presentation
Presenter: Dr. Azim Anwar
Chairperson:
Prof. Dr. Jahanara Arzu
Professor, Dept Of Cardiology,
BSMMU

2. Mr. Sabbir, 19
SOB at rest --- 15 days
2

3. -Reasonably well 6 months back
-SOB : Exertional, Initially NYHA 2
-Gradually progressive
-NYHA 3
-Associated with PND
-Orthopnia
-No seasonal or diurnal variation
-No history of allergy to cold, dust, fume or food
3

4. - Evaluated in multiple center
-Treated with oral & injectable medicines
-Not completely improved
- NYHA 4 for 2 weeks
-Admitted to multiple hospitals
4

5. Immediate Bed Side clinical examination and Resuscitation process
Started
5
General
Examination
Pectus Excavatum
Visible Apical Impulse
Apex beat 7th ICS
PP2, Heave +
Systolic thrill at Apex & left
sternal edge
PSM at Apex (5/6) & Left
sternal edge (5/6)
Distressed
Malnourished
Decubitus: Sitting and leaning
Pulse – 110 bpm
BP – 100/70 mmhg
RR – 24 breaths/min
Ankle Edema ++
JVP – Raised (6cm)
Anemia –
Cyanosis -
Systemic
Ex:

6. 6

7. Working Diagnosis
Bi Ventricular Failure
MR, TR
Pulmonary Hypertension
7

8. “
We exchanged views with
Paediatric Cardiology and started
treatment.
Propped Up nursing
Maintain SPO2> 92%
Fluid 850 ml / day
Enalapril 5, 1/3 + 0 + 1/3
Carvedilol 6.25, 1/3 + 0 + 1/3
Frus+ Spir 20/50, 1 + 1 + 0
8

9. Checked Previous
Records
Hypothyroidism
Iron Deficiency Anemia
9

10. Checked Previous
Records
Past H/O : No rheumatic fever
Family H/O
Personal H/O
Vaccination H/O
Socioeconomic H/0
10

11. CXR P/A View
11

12. Transition
headline
Let’s start with the first set of slides
1

13. Acute on CHF (HFpEF)
MR (MVP)
Pulmonary Hypertension (Severe)

14. Cause of MVP ?
Mitral valve prolapse (MVP) refers to a systolic billowing of one or both mitral
leaflets into the left atrium during ventricular systole (valve prolapse of 2
mm or more)
Primary MVP occurs with increased frequency in patients with Marfan
syndrome and other connective tissue diseases (Ehlers-Danlos syndrome,
osteogenesis imperfecta, or pseudoxanthoma elasticum)
[Mitral valve incompetence: epidemiology and causes
Vol. 16, N° 11 - 16 May 2018, ESC e-journal of cardiology practice]

15. Subdivisions of Ehlers Danlos Syndromes
classic EDS
classical-like EDS
vascular EDS
hypermobile EDS
anthrochalasia EDS
dermatosparaxis EDS
kyphoscoliotic EDS
brittle cornea syndrome
spondylodysplastic EDS
musculocontractural EDS
myopathic EDS
periodontal EDS

16. Dermatosparaxis type (dEDS)
Patient with dEDS (formerly EDSVIIC) tend
to show a set of common body features.
These include a
-short stature and finger length,
-loose skin of the face, with comparatively
full eyelids,
- blue-tinged scera,
-skin folds in the upper eyelids,
-downward slanting outer corners of the
eyes (palpebral fissures)
-small jaw (micrognathia).

17. Diagnosis by Genetic testing
`At least 20 genes have been found to cause the Ehlers-
Danlos syndromes. (Variants in the COL5A1 or COL5A2
gene, or rarely in the COL1A1 gene).
Management of EDS:
Not curative. Only supportive