Objectives: The motion of structures of the heart is the basis for cardiac function. Factors such as low image quality and low signal-to-noise ratio create hindrances in the adequate valuation of left ventricular (LV) systolic and diastolic function. Even in cases with poor image quality, the aorta being a large structure is well visualized. One of the unorthodox approaches to the assessment of heart function is the study of aortic root movement. Materials and Methods: We studied patients who came to the Nizam Institute of Medical Sciences. The ethics committee of the institute approved our study. We studied 85 patients who came to the emergency or outpatient department with or without various cardiovascular problems. We have included patients who presented with myocardial infarction, arrhythmia, and heart failure, cerebrovascular accident. We measured the constants pertaining to the aortic root motion and LV function with the standard parameters of echocardiography. Then, we aimed to check for a correlation between aortic root movement parameters and the LV function of the heart. Patients filling the inclusion criteria were enrolled in the study after taking informed consent. The data from the participants were collected prospectively. We recorded the echocardiography according to the standard guidelines. We used the Vivid E9 scanner (GE Vingmed Ultrasound AS) with the M5S-D (1.7–3.3 MHz) cardiac probe to acquire the data. We studied the echocardiographic 2D images and Doppler parameters. We used the parasternal long axis view as well as the parasternal short axis view to measure the aortic movement. Results: We included a total number of 85 patients as per the defined criteria among which 22 (25.88%) are females and 63 (74.11%) are males. The average age of enrolled participants was 56.30 years (±14.95 years). The mean age of the patients was 56.3 ± 14.9. About 75% of the subjects had LV dysfunction and the remaining had normal lv function. Sixty-five patients had LV dysfunction either due to ischemic or non-ischemic cardiomyopathy. We, then, checked for the relationship between the aortic root constants and the LV function parameters. We found the mean value of aortic root diastolic distance (ARDD) as 2.59 ± 0.43 cm and. The aortic root maximal diastolic velocity (ARDV) was 10.8 ± 2.4 cm/s. The aortic root systolic distance (ARSD) was 2.71 ± 0.65 cm. The aortic root maximal systolic velocity (ARSV) was 7.92 ± 2.26 cm/s. Mean aortic root excursion was 4.3 mm. Aortic root systolic excursion (ARSE) showed a parallel relation with LV function (r up to 0.7). We found ARSD and ARSV correlating weakly with systolic Doppler parameters, such as ejection fraction (EF), maximum annular plane systolic excursion (MAPSE), and s' medial. ARSE was an exception that it showed a good correlation with s’medial r = 0.746 (P < 0.001), EF r = 0.807 (P < 0.001), and MAPSE r = 0.68 (P < 0.001). The ARDD and ARDV related poorly with LV diastolic parameters such as e' mean, e' medial, e' lateral, E/A, and E/e’. E velocity, E/A, and E/e’mean showed a negative correlation with ARDV. ARDD (r up to 0.02) and ARSD (all r values < 0.40) did not correlate with the LV Doppler measurements. ARDV correlated (r up to 0.51) with some LV diastolic Doppler parameters and ARSV correlated in moderate range only with mitral annulus plane systolic excursion (r = 0.31). In fact, we found that ARDD is related better than ARDV with Doppler measurements. Conclusion: In our study, we included subjects with cardiovascular diseases and we conclude that systolic aortic root motion correlates significantly with systolic LV function, the most essential being the aortic root systolic velocity. We found that the diastolic root motion parameters correlated weakly with the diastolic LV function. In patients with poor echo windows, aortic root motion may be helpful in predicting LV function in patients with or without LV dysfunction.
Sudden cardiac arrest (SCA) and its consequence sudden cardiac death (SCD) are the common cardiac pathway for death. Often, the cause is not found and the inability to delineate the underlying process presents a major public health challenge. Although CAD represents the most common cause of SCD, arrhythmias are an important cause of the same as these patients present with fewer premonitory symptoms and often go undetected. Inherited arrhythmia syndromes represent a challenge due to limited availability of widespread genetic testing and known pathogenic genetic mutations. One such gene is ABCC9 gene, which encodes the SUR2 subunit of the ATP sensitive potassium channel or KATP channel. Mutations in KATP channel are associated with wide range of inherited diseases. Gain-of-function mutations are associated with Cantu syndrome characterized by hypertrichosis and acromegaloid facial features. Loss-of-function mutations are associated with Brugada syndrome and dilated cardiomyopathy. Here, we report a patient with a likely pathogenic mutation in the ABCC9 gene, identified by whole exome sequencing. The male proband came with multiple episodes of syncopal events and palpitations found to have advanced atrioventricular block. This case highlights the consequences of KATP channel dysfunction in the cardiovascular system.
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