noonan syndrome

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NOONAN SYNDROME

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  • WELCOME TO CASE PRESENTATIONPRESENTER:DR. Md Akhtaruzzaman MD STUDENT

    MODERATOR:DR. Asraf uddin chowdhuryAssistant professor of cardiologyNICVD

  • Particulars of the patientName- Mr. Raihanul Islam Age- 21 yearsAddress: Vill; Lognosa, PO. Borura, Dist; Comilla.Date of admission: 23/04/09

  • Chief complaintExertional palpitation and shortness of breath 2 months

  • History of present illnessPatient developed palpitation for last 2 months which is precipitated by physical exertion and relieved by rest.He also complain of shortness of breath for two months. Initially it occurred on moderate exertion but now it occurs on minimal exertion but not at rest. There is no diurnal variation. He gave no history of orthopnea and PND. It is not associated with cough.There is no H/O chest pain,flushing, vertigo, heat intolerance, alteration of consciousness, syncope and polyuria, No H/O thrombo-embolic manifestation.

  • History of present illness-Contd Since his childhood, he developed palpitation and shortness of breath during playing and running but no H/O squatting or color change. He admitted in this hospital 2 months back and referred to surgery department.

  • Past History: No history suggestive of cyanotic spell or rheumatic fever. Treatment history : He is taking Tab. Propranolol . Family history: Lives with parents and 2 brothers. No H/O congenital heart disease in his family.

  • Social history: Student of Hons. 1st year He belongs to middle class family.

    Immunization history: He completed schedule of immunization.

  • General ExaminationPatient cooperative, decubitus on choice.Webbing of neck, low set ear, bilateral ptosis presentNo lymphadenopathy Anamia, cyanosis, jaundice and clubbing- Absent Thyroid gland NormalPulse 74 bpm, regularBP 110/70 mm of HgRespiratory rate 18/minTemp normal

  • Systemic ExaminationCardiovascular system:Pulse 74 bpm, normal in volume & character, no radio radial & radio femoral delay. Condition of the vessel wall normal, All peripheral pulses are symmetrically present.BP 110/70 mm of HgJVP Prominent a wave present.

  • PrecordiumShape of the chest Pectus excavatumApex beat at left 5th intercostal space, medial to mid clavicular line & normal in character.Lt. parasternal heave & epigastric pulsation Present.No palpable P2Systolic thrill present at the Pulmonary area.

    Cardiovascular system: Contd

  • S1 normal, Aortic component of S2 normal and pulmonary component of S2 is soft. There is ejection systolic murmur, grade 4/6 in pulmonary area radiating to left clavicle which increased during inspiration. There is ejection click at pulmonary area, more marked during expirationThere is a pansystoloic murmur of grade 3/6 in left lower parasternal area which increased during inspiration.

  • Salient featureMr Raihanul Islam 21 years of age, non-diabetic, normotenssive admitted with complaints of exertional palpitation and dyspnoea since childhood which is increased for the last two months . He gave no history of cyanotic spell or and history suggestive of rheumatic fever past. On examination, there is bilateral congenital ptosis ,webbing of neck and low set ear . Pulse is regular and prominent a wave in JVP.

  • There is a pectus excavatum deformity of chest wall. Apex beat is palpable at left 5th intercostal space, medial to midclavicular line and normal in character. Left parasternal heave and epigastric pulsation present. P2 not palpable.There is systolic thrill in pulmonary area.S1 normal in apical area, P2 is soft.There is harsh ejection systolic murmur of grade 4/6, heard over pulmonary area which is louder during inspiration radiating to the left clavicle.

  • There is ejection click at pulmonary area, more marked during expirationThere is a pansystoloic murmur of grade 3/6 in left lower parasternal area which increased during inspiration.

  • Provisional diagnosis Pulmonary stenosis with Noonan syndrome

    Differential diagnosis:VSD with Noonan syndromeASD with Noonan syndrome.Aortic stenosisNoonan syndrome.

  • INVESTIGATION:Hb% - 13.6 gm/dlESR- 26 mm in 1st hour T.C- 6,800/CmmD.C- N-64% L-32% E-2% M-2%RBS- 4.4 mmol/LS.Creatinine-1 mg/dlS. Na+- 135 mmol/L, S. K+- 3.4 mmol/L

  • ECG: Left axis deviationPoor progression R wave in chest lead

  • ECG

  • X RAY CHEST P/A VIEW : Oligaemic lung field Post stenotic dilatation of pulmonary arteryMild cardiomegaly with RV type apex

  • CHEST X-RAY P/A VIEW

  • ECHOCARDIOGRAM: Severe pulmonary stenosis mainly valvular (PPG 70mm of Hg) Asymmetrical septal hypertropy with mild SAM TR grade II, mild PR.

  • CARDIAC CATH.Cardiac cath; pressure oxymetry(per) SVC- high -59 low -62IVC- high -78 low -76RA-high -65 mid 13/8/10 -66 low - -68RV body- 120/15/ 40 -66 EDP 20No left to right shunt

  • CATH FINDINGS: Pressure study shows: High right ventricular systolic pressure and right ventricular end diastolic pressure,High RA mean pressureOXYMETRY shows:No significant oxygen stepup Trajectory shows no abnormal communication.Graphy; Left brachiocephalic venography shows left persistant superior venacava.RV graphy shows both valvular and infundibular stenosis.Post stenotic dilation of main pulmonary artery.

  • CONFIRMED DIAGNOSIS : Pulmonary stenosis Persistent left superior venacava Noonan syndrome

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