Echocardiographic Measurements in Normal Healthy Adult Population of North India.

BACKGROUND AND AIM:  Interpretation of imaging modalities depends on robust normal reference limits. Ethnicity is an essential determinant of cardiac chamber sizes. Though few studies from India have focused on this research, it has yet to include the Kashmiri population. We aimed to study normal echocardiographic values of healthy Kashmiri adults and compare them with Western and Indian studies. METHODS:  It was a prospective observational study on healthy adults of Kashmir Valley. A comprehensive echocardiographic analysis following standardized protocols was performed. RESULTS:  A total of 2245 study participants were analyzed. The mean age was 32.52±11.55 years. There were 1100 (49%) males. Males had higher absolute left ventricular volumes and mass, left atrial volumes, right ventricular diameter, and aortic size, while females had higher absolute left ventricular ejection fraction and early and late diastolic mitral inflow velocities. Males had higher indexed left ventricular end-systolic volume, while females had higher indexed left ventricular end diastole diameter, aorta diameter, right ventricle, and left and right atrial sizes. Left ventricular mass and diastolic parameters were significantly associated with age. Compared with the American Society of Echocardiography/European Association of Cardiovascular Imaging, absolute values of left ventricle size, volumes, mass, right ventricle size, aortic size, and left and right atrial size were higher than those in our study. Our study population had a higher left ventricle ejection fraction. Among indexed parameters, left ventricle volumes, left ventricle systolic diameter, aortic annulus, and left and right atrial volumes were still significantly higher in Western data. While comparing with Indian data, we noted significant regional differences. CONCLUSION:  We provide normal reference values for our local population. We noted significant differences with Western as well as other Indian populations. Our study highlights the need for developing ethnic-specific reference values of various echocardiographic measurements.

Multiple Uterine Leiomyomas in Multiple Endocrine Neoplasia Type 1 with a Novel MEN1 Gene Mutation.

To report the clinical, hormonal, and genetic features of a female with multiple endocrine neoplasia type 1 (MEN1) with multiple uterine leiomyomas. The study was conducted at a tertiary care endocrinology unit. A 27-year-old female was diagnosed with prolactinoma, primary hyperparathyroidism (PHPT), and multiple uterine leiomyomas. In view of prolactinoma and PHPT, a clinical diagnosis of MEN1 syndrome was made. She also had multiple uterine leiomyomas for which myomectomy was done. Genetic analysis revealed a novel mutation c.1763C>T, p.S588L of MEN1 gene. The association of uterine leiomyomas with MEN1 is exceptionally rare. This is the first report of multiple uterine leiomyomas in a patient with MEN1 from our country and the first report of this mutation in the MEN1 gene in the world. We conclude that in the presence of multiple uterine leiomyomas and endocrine tumor, clinical examination and laboratory evaluation may uncover the diagnosis of MEN1 syndrome in these patients.