Ninja Star Nucleus in Dilated cardiomyopathy
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#NEETPG #INICET #Ninjastar #titinmutation
TTN gene encodes for Titin which is the largest human protein composed of 33K amino acids. It is the third most abundant striated muscle protein.
TTN mutations leads to dilated cardiomyopathy. Clinical features of Dilated cardiomyopathy are identical to forward and backward failure features of CHF leading to pulmonary edema and pedal edema. Key points that help you in 30 seconds whether examiner is asking about Dilated cardiomyopathy leading to CHF findings are as follows:
Pick up points in MCQ:
| Pulse | Dicrotic pulse |
| Murmurs | Functional Murmurs of chronic Mitral and tricuspid regurgitation Pansystolic murmur of left and right can be differentiated as right sided murmurs will increase on inspiration. |
| JVP | Elevated JVP that does not fall with inspiration called Kussmual sign |
| Per Abdomen | Hepatomegaly with Ascites |
| Echocardiography | Gross dilatation of all chambers of heart with reduced wall thickness. |
| Coronary angiography | Normal as ischemia must be ruled out before commenting on cardiomyopathy |
| Histopathology | Hyperchromatic highly distorted Ninja star like nuclei
If seen in > 5% of myocytes it is highly suggestive of titin truncating mutation Do not confuse its nucleus with box car nuclei of hypertrophied muscles due to untreated hypertension.
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