Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy

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Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy. / Rai, Taranjit Singh; Ahmad, Shamim; Ahluwalia, Tarun Veer Singh; Ahuja, Monica; Bahl, Ajay; Saikia, Uma Nahar; Singh, Balvinder; Talwar, Kewal K; Khullar, Madhu.

In: Developments in Molecular and Cellular Biochemistry, Vol. 331, No. 1-2, 11.2009, p. 187-92.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Rai, TS, Ahmad, S, Ahluwalia, TVS, Ahuja, M, Bahl, A, Saikia, UN, Singh, B, Talwar, KK & Khullar, M 2009, 'Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy', Developments in Molecular and Cellular Biochemistry, vol. 331, no. 1-2, pp. 187-92. https://doi.org/10.1007/s11010-009-0157-7

APA

Rai, T. S., Ahmad, S., Ahluwalia, T. V. S., Ahuja, M., Bahl, A., Saikia, U. N., Singh, B., Talwar, K. K., & Khullar, M. (2009). Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy. Developments in Molecular and Cellular Biochemistry, 331(1-2), 187-92. https://doi.org/10.1007/s11010-009-0157-7

Vancouver

Rai TS, Ahmad S, Ahluwalia TVS, Ahuja M, Bahl A, Saikia UN et al. Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy. Developments in Molecular and Cellular Biochemistry. 2009 Nov;331(1-2):187-92. https://doi.org/10.1007/s11010-009-0157-7

Author

Rai, Taranjit Singh ; Ahmad, Shamim ; Ahluwalia, Tarun Veer Singh ; Ahuja, Monica ; Bahl, Ajay ; Saikia, Uma Nahar ; Singh, Balvinder ; Talwar, Kewal K ; Khullar, Madhu. / Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy. In: Developments in Molecular and Cellular Biochemistry. 2009 ; Vol. 331, No. 1-2. pp. 187-92.

Bibtex

@article{5c64f4ab32794311a864321b40745f6f,
title = "Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy",
abstract = "Both idiopathic restrictive cardiomyopathy (IRCM) and hypertrophic cardiomyopathy (HCM) are part of the same disease spectrum and are due to sarcomeric gene mutations. A patient with restrictive physiology without left ventricular hypertrophy (LVH) would be diagnosed as IRCM, while one with LVH would be diagnosed as HCM with restrictive physiology. We studied a group of patients with restrictive physiology for mutations in beta-myosin heavy chain (MYH7) and troponin I (TNNI3) gene. Consecutive probands in the HCM and IRCM cohort over a 4-year period were considered for this study. These included 10 IRCM and 102 HCM patients. All were Asian Indians. Among the 17 patients who had restrictive physiology 10 were IRCM patients and seven were HCM patients. Of the HCM patients, seven (6.9%) had restrictive physiology. Mean age of these 17 patients was 40.1 +/- 19.2 years (range: 15-67 ), six (35.3%) were males. Maximal left ventricular wall thickness of the seven HCM probands was 20.7 +/- 5.2 mm (range: 16-31), while it was normal in the IRCM probands. Ten probands (58.8%) were in NYHA class III or IV. Seven patients (41.2%) had atrial fibrillation. All the probands were screened for mutations in selected exons of MYH7 and TNNI3 genes. One IRCM patient was found to have p.Arg721Lys mutation in the MYH7 gene. She died due to progressive congestive cardiac failure at the age of 47 years. One HCM proband with a maximal left ventricular wall thickness of 17 mm had p.Arg192His mutation in the TNNI3 gene. She had features consistent with restrictive physiology. Her father and sister had died of restrictive cardiomyopathy. IRCM and HCM with restrictive physiology, both are part of the clinical expression of MYH7 and TNNI3 mutations and lead to worse clinical onset and progression of the disease.",
keywords = "Adolescent, Adult, Aged, Amino Acid Substitution, Asian Continental Ancestry Group, Cardiomyopathy, Hypertrophic, Cardiomyopathy, Restrictive, DNA Mutational Analysis, Family, Female, Humans, India, Male, Middle Aged, Pedigree, Young Adult",
author = "Rai, {Taranjit Singh} and Shamim Ahmad and Ahluwalia, {Tarun Veer Singh} and Monica Ahuja and Ajay Bahl and Saikia, {Uma Nahar} and Balvinder Singh and Talwar, {Kewal K} and Madhu Khullar",
year = "2009",
month = nov,
doi = "10.1007/s11010-009-0157-7",
language = "English",
volume = "331",
pages = "187--92",
journal = "Developments in Molecular and Cellular Biochemistry",
issn = "0167-9023",
publisher = "Springer",
number = "1-2",

}

RIS

TY - JOUR

T1 - Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy

AU - Rai, Taranjit Singh

AU - Ahmad, Shamim

AU - Ahluwalia, Tarun Veer Singh

AU - Ahuja, Monica

AU - Bahl, Ajay

AU - Saikia, Uma Nahar

AU - Singh, Balvinder

AU - Talwar, Kewal K

AU - Khullar, Madhu

PY - 2009/11

Y1 - 2009/11

N2 - Both idiopathic restrictive cardiomyopathy (IRCM) and hypertrophic cardiomyopathy (HCM) are part of the same disease spectrum and are due to sarcomeric gene mutations. A patient with restrictive physiology without left ventricular hypertrophy (LVH) would be diagnosed as IRCM, while one with LVH would be diagnosed as HCM with restrictive physiology. We studied a group of patients with restrictive physiology for mutations in beta-myosin heavy chain (MYH7) and troponin I (TNNI3) gene. Consecutive probands in the HCM and IRCM cohort over a 4-year period were considered for this study. These included 10 IRCM and 102 HCM patients. All were Asian Indians. Among the 17 patients who had restrictive physiology 10 were IRCM patients and seven were HCM patients. Of the HCM patients, seven (6.9%) had restrictive physiology. Mean age of these 17 patients was 40.1 +/- 19.2 years (range: 15-67 ), six (35.3%) were males. Maximal left ventricular wall thickness of the seven HCM probands was 20.7 +/- 5.2 mm (range: 16-31), while it was normal in the IRCM probands. Ten probands (58.8%) were in NYHA class III or IV. Seven patients (41.2%) had atrial fibrillation. All the probands were screened for mutations in selected exons of MYH7 and TNNI3 genes. One IRCM patient was found to have p.Arg721Lys mutation in the MYH7 gene. She died due to progressive congestive cardiac failure at the age of 47 years. One HCM proband with a maximal left ventricular wall thickness of 17 mm had p.Arg192His mutation in the TNNI3 gene. She had features consistent with restrictive physiology. Her father and sister had died of restrictive cardiomyopathy. IRCM and HCM with restrictive physiology, both are part of the clinical expression of MYH7 and TNNI3 mutations and lead to worse clinical onset and progression of the disease.

AB - Both idiopathic restrictive cardiomyopathy (IRCM) and hypertrophic cardiomyopathy (HCM) are part of the same disease spectrum and are due to sarcomeric gene mutations. A patient with restrictive physiology without left ventricular hypertrophy (LVH) would be diagnosed as IRCM, while one with LVH would be diagnosed as HCM with restrictive physiology. We studied a group of patients with restrictive physiology for mutations in beta-myosin heavy chain (MYH7) and troponin I (TNNI3) gene. Consecutive probands in the HCM and IRCM cohort over a 4-year period were considered for this study. These included 10 IRCM and 102 HCM patients. All were Asian Indians. Among the 17 patients who had restrictive physiology 10 were IRCM patients and seven were HCM patients. Of the HCM patients, seven (6.9%) had restrictive physiology. Mean age of these 17 patients was 40.1 +/- 19.2 years (range: 15-67 ), six (35.3%) were males. Maximal left ventricular wall thickness of the seven HCM probands was 20.7 +/- 5.2 mm (range: 16-31), while it was normal in the IRCM probands. Ten probands (58.8%) were in NYHA class III or IV. Seven patients (41.2%) had atrial fibrillation. All the probands were screened for mutations in selected exons of MYH7 and TNNI3 genes. One IRCM patient was found to have p.Arg721Lys mutation in the MYH7 gene. She died due to progressive congestive cardiac failure at the age of 47 years. One HCM proband with a maximal left ventricular wall thickness of 17 mm had p.Arg192His mutation in the TNNI3 gene. She had features consistent with restrictive physiology. Her father and sister had died of restrictive cardiomyopathy. IRCM and HCM with restrictive physiology, both are part of the clinical expression of MYH7 and TNNI3 mutations and lead to worse clinical onset and progression of the disease.

KW - Adolescent

KW - Adult

KW - Aged

KW - Amino Acid Substitution

KW - Asian Continental Ancestry Group

KW - Cardiomyopathy, Hypertrophic

KW - Cardiomyopathy, Restrictive

KW - DNA Mutational Analysis

KW - Family

KW - Female

KW - Humans

KW - India

KW - Male

KW - Middle Aged

KW - Pedigree

KW - Young Adult

U2 - 10.1007/s11010-009-0157-7

DO - 10.1007/s11010-009-0157-7

M3 - Journal article

C2 - 19449150

VL - 331

SP - 187

EP - 192

JO - Developments in Molecular and Cellular Biochemistry

JF - Developments in Molecular and Cellular Biochemistry

SN - 0167-9023

IS - 1-2

ER -

ID: 49647054