The aim of this pilot study was to evaluate the prevalence and clinical implications of hyperhomocysteinaemia in a cohort of patients with HCM and MTHFR C677T polymorphism. A total of 65 consecutive patients with a diagnosis of HCM1 and MTHFR C677T polymorphism were retrospectively evaluated at the Cardiomyopathies and Heart Failure Clinic of the University of Campania ‘Luigi Vanvitelli’ between January 2008 and January 2019. The primary endpoint was a composite of all-cause death, decompensated heart failure, syncope, arrhythmia, implantable cardioverter-defibrillator implantation, or all-cause hospitalization. Secondary endpoints were the individual components of the primary endpoint. The mean age at HCM diagnosis of the total cohort was 30.519.2 years. Out of 65 participants, 52% had a mutation in sarcomeric genes and 49% showed plasma homocysteine levels >12 mmol/L hyperhomocysteinaemia). In patients with hyperhomocysteinaemia, plasma homocysteine levels were higher compared with those without (20.68 vs. 9.11.9, p-value<0.001), while mean age at HCM diagnosis, family history of HCM and SCD, genetic variants and degree of hypertrophy or left ventricular outflow tract obstruction did not differ statistically significantly between the two groups. homocysteine levels >12 mmol/L (hyperhomocysteinaemia). In patients with hyperhomocysteinaemia, plasma homocysteine levels were higher compared with those without (20.68 vs. 9.11.9, p-value<0.001), while mean age at HCM diagnosis, family history of HCM and SCD, genetic variants and degree of hypertrophy or left ventricular outflow tract obstruction did not differ statistically significantly between the two groups.

Prevalence and clinical implications of hyperhomocysteinaemia in patients with hypertrophic cardiomyopathy and MTHFR C6777T polymorphism / Esposito, Augusto; Monda, Emanuele; Gragnano, Felice; De Simone, Fabiana; Cesaro, Arturo; Natale, Francesco; Concilio, Claudia; Moscarella, Elisabetta; Caiazza, Martina; Pazzanese, Vittorio; Verrengia, Marina; Valente, Fabio; Masarone, Daniele; Pelliccia, Francesco; Bossone, Eduardo; Calabro, Paolo; Pacileo, Giuseppe; Limongelli1, Giuseppe. - In: EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY. - ISSN 2047-4873. - 2019 Nov 12(2019), pp. 1-3. [10.1177/2047487319888596]

Prevalence and clinical implications of hyperhomocysteinaemia in patients with hypertrophic cardiomyopathy and MTHFR C6777T polymorphism.

Francesco Pelliccia;
2019

Abstract

The aim of this pilot study was to evaluate the prevalence and clinical implications of hyperhomocysteinaemia in a cohort of patients with HCM and MTHFR C677T polymorphism. A total of 65 consecutive patients with a diagnosis of HCM1 and MTHFR C677T polymorphism were retrospectively evaluated at the Cardiomyopathies and Heart Failure Clinic of the University of Campania ‘Luigi Vanvitelli’ between January 2008 and January 2019. The primary endpoint was a composite of all-cause death, decompensated heart failure, syncope, arrhythmia, implantable cardioverter-defibrillator implantation, or all-cause hospitalization. Secondary endpoints were the individual components of the primary endpoint. The mean age at HCM diagnosis of the total cohort was 30.519.2 years. Out of 65 participants, 52% had a mutation in sarcomeric genes and 49% showed plasma homocysteine levels >12 mmol/L hyperhomocysteinaemia). In patients with hyperhomocysteinaemia, plasma homocysteine levels were higher compared with those without (20.68 vs. 9.11.9, p-value<0.001), while mean age at HCM diagnosis, family history of HCM and SCD, genetic variants and degree of hypertrophy or left ventricular outflow tract obstruction did not differ statistically significantly between the two groups. homocysteine levels >12 mmol/L (hyperhomocysteinaemia). In patients with hyperhomocysteinaemia, plasma homocysteine levels were higher compared with those without (20.68 vs. 9.11.9, p-value<0.001), while mean age at HCM diagnosis, family history of HCM and SCD, genetic variants and degree of hypertrophy or left ventricular outflow tract obstruction did not differ statistically significantly between the two groups.
2019
hypertrophic cardiomyopathy; homocisteine; hyperhomocysteinaemia
01 Pubblicazione su rivista::01a Articolo in rivista
Prevalence and clinical implications of hyperhomocysteinaemia in patients with hypertrophic cardiomyopathy and MTHFR C6777T polymorphism / Esposito, Augusto; Monda, Emanuele; Gragnano, Felice; De Simone, Fabiana; Cesaro, Arturo; Natale, Francesco; Concilio, Claudia; Moscarella, Elisabetta; Caiazza, Martina; Pazzanese, Vittorio; Verrengia, Marina; Valente, Fabio; Masarone, Daniele; Pelliccia, Francesco; Bossone, Eduardo; Calabro, Paolo; Pacileo, Giuseppe; Limongelli1, Giuseppe. - In: EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY. - ISSN 2047-4873. - 2019 Nov 12(2019), pp. 1-3. [10.1177/2047487319888596]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1329875
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