A novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy.

Primary triglyceride deposit cardiomyovasculopathy (P-TGCV), caused by a rare genetic mutation in PNPLA2 encoding adipose triglyceride lipase (ATGL), exhibits severe cardiomyocyte steatosis and heart failure. Here, we report the case of a 51-year-old man with P-TGCV homozygous for a novel PNPLA2 mutation (c.446C > G, P149R) in the catalytic domain of ATGL. Analyses of endomyocardial biopsy specimens and in vitro expression experiments showed mutant protein expression with conserved lipid binding, but reduced lipolytic activity, indicating mutation pathogenicity.

Efficacy of combination therapy with gabapentin and guanfacine for paroxysmal sympathetic hyperactivity following hypoxic encephalopathy: a case report.

Paroxysmal sympathetic hyperactivity (PSH) is a clinical syndrome of episodic sympathetic hyperactivities following severe acquired brain injury. It is characterized by paroxysmal hyperthermia, tachycardia, hypertension, tachypnea, excessive diaphoresis, and specific posturing. Although the persistence of PSH increases the risk of several adverse events and worsens the prognosis, pharmacological treatments for PSH have not yet been clearly established. We report the valuable case of a 60-year-old man who developed PSH following hypoxic encephalopathy, which was effectively treated with a combination therapy of gabapentin and guanfacine. The present case suggests that combination therapy with gabapentin and guanfacine may be a therapeutic option for PSH.

Association between Left Ventricular Postsystolic Shortening and Diastolic Relaxation in Asymptomatic Patients with Systemic Hypertension.

BACKGROUND: Few data have existed on myocardial postsystolic shortening (PSS) accounting for left ventricular (LV) diastolic dysfunction in systemic hypertension. We examined this relationship, along with clinical and other cardiac parameters, in asymptomatic patients with hypertension. METHODS: We analyzed 104 patients on pharmacological treatment for hypertension who had no signs or symptoms of heart failure for conventional and speckle tracking echocardiography. The sum of the postsystolic index for multiple LV segments (total PSI) and global longitudinal strain (GLS) was computed and used as measures for global PSS and myocardial systolic function, respectively. The tissue Doppler e' and the speckle tracking-derived global strain rate during early diastole (e'sr) were obtained as indicators of LV relaxation. The circumferential end-systolic stress was also determined noninvasively and substituted for a measure of myocardial afterload. RESULTS: Main variables that correlated with the e' and e'sr were shown to be age, LV mass index, left atrial volume index, GLS, and the total PSI. Multivariate analysis including gender, circumferential end-systolic stress, and the use of calcium channel blockers as possible covariates revealed that age (ß = -0.29, P = 0.002), total PSI (ß = -0.26, P = 0.008), and LV mass index (ß = -0.25, P = 0.017) were significant independent determinants of e' and that age (ß = -0.34, P < 0.001) and GLS (ß = -0.28, P = 0.006) were of e'sr. CONCLUSIONS: Our findings indicate that while depending on the degree of GLS, PSS may affect diastolic relaxation in patients with asymptomatic, but treated, hypertensive patients.

Left ventricular mechanical discoordination in nonischemic hearts: relationship with left ventricular function, geometry, and electrical dyssynchrony.

BACKGROUND: Mechanical discoordination (MD) is known as a myocardial deformation of opposite strain during ejection, reflecting dyssynchronous electrical activation. We used speckle tracking echocardiography to examine the relationship between MD, left ventricular (LV) function and geometry, as well as electrical dyssynchrony in various nonischemic hearts. METHODS AND RESULTS: We examined 131 subjects (left bundle branch block [LBBB] 27; dilated cardiomyopathy [DCM] without LBBB 33; LV hypertrophy 28; and normal heart 43) using circumferential strain rate analysis. Integration of positive (stretch) and negative (shortening) components during the ejection time was obtained in the mid-ventricular level for 6 myocardial segments, and MD was quantified as the stretch to shortening ratio (SSR). The SSR in the septal region (anteroseptal and septal segments) was markedly elevated in the LBBB and DCM groups compared with the other groups. With univariate analysis, SSR over the septal region was found to be correlated with QRS duration, LV end-diastolic dimension, and LV ejection fraction. Multivariate analysis revealed that QRS duration and LV ejection fraction were significant independent determinants of SSR for the septal region. CONCLUSIONS: In nonischemic hearts, electrical dyssynchrony and LV dysfunction may contribute synergistically to MD in the septal region. The finding that non-LBBB DCM patients exhibited a certain amount of SSR may provide new insight into therapeutic strategies for cardiac resynchronization therapy.

Association between presystolic ventricular flash and left ventricular functional recovery after cardiac resynchronization therapy.

The presence of septal flash (SF), an early inward/outward motion of the ventricular septum, has been reported to predict a fair response to cardiac resynchronization therapy (CRT) in patients with heart failure. Using speckle tracking echocardiography, we investigated whether the extent of pre-CRT SF was associated with left ventricular (LV) functional recovery after CRT device implantation. Fifteen patients with left bundle branch block with a mean LV ejection fraction of 23 ± 9% were enrolled in this study. The extent of presystolic ventricular flash (PSVF), which was defined if there was a peak in the radial strain curve in the preejection period, was semiquantified by counting the number of PSVF-positive segments. Patients underwent radial strain analysis before and between 3 and 6 months after CRT. After CRT device implantation, LV end-diastolic and end-systolic volumes were decreased, LV ejection fraction was increased, and LV filling time corrected by RR interval was increased. The number of PSVF-positive segments at baseline showed a graded association with improvement in both LV ejection fraction and LV filling time. In conclusion, the finding that a larger number of PSVF-positive segments before CRT predicted fair LV functional recovery after CRT suggests that PSVF may represent a substrate that is amenable to functional response to CRT.

Association between serum immunoglobulin G4 concentration and cardiac function among elderly cardiology inpatients.

AIM: To study whether there is an association between serum immunoglobulin G4 (IgG4) concentration and cardiac function among cardiology inpatients. METHODS: This retrospective study included 91 patients who had sinus rhythm. Of 91 patients, 70 patients (77%) were aged ≥ 60 years (elderly group) and the remaining 21 patients (23%) were aged <60 years (younger group). RESULTS: Serum IgG4 concentrations were found to be negatively correlated with brain natriuretic peptide (BNP) and with E/e', an indicator for cardiac diastolic function in the elderly group, but not in the younger group. In contrast, IgG4 was significantly correlated with neither left ventricular mass nor ejection fraction in either group. Multivariate regression analysis showed that, in the elderly group, the association between IgG4 and E/e', and that between IgG4 and BNP, were independent of age, sex, systolic blood pressure and renal function; log-transformed IgG4 showed a negative association with log-transformed E/e' and log-transformed BNP, with a standardized correlation coefficient of -0.26 (95% confidence interval -0.49 to -0.03, P = 0.030 and -0.22 (95% confidence interval -0.44 to -0.11, P = 0.043), respectively. CONCLUSION: Serum IgG4 concentration might be associated with cardiac diastolic function among elderly cardiology inpatients.

Temporal changes in echocardiographic findings in cardiac and non-cardiac sarcoidosis patients.

OBJECTIVE: Echocardiography is used for the detection of cardiac sarcoid involvement in patients with non-cardiac sarcoidosis. Little information is available regarding temporal changes in left ventricular ejection fraction (LVEF) and left ventricular end-diastolic dimension (LVDd) in non-cardiac sarcoidosis patients. METHODS AND RESULTS: Fifty-four sarcoidosis patients who received periodic follow-up with echocardiography at our institute were enrolled in this study. At the time of initial ultrasonography, 13 patients were diagnosed with cardiac sarcoid involvement. All of the remaining 41 patients with extra-cardiac sarcoidosis only had a LVEF of >50%. During the median follow-up period of 39 months, two (4.9%) of the non-cardiac sarcoidosis patients were diagnosed with cardiac sarcoid involvement; one patient showed a progressive decline in the LVEF over a short period of time. It was also found that two of 41 non-cardiac sarcoidosis patients showed declines in the LVEF of >10% per year; however, they were not diagnosed with cardiac sarcoidosis during the follow-up period. CONCLUSION: Rapid deterioration of left ventricular function may increase the suspicion of sarcoid involvement of the heart in non-cardiac sarcoidosis patients; however, we must be aware that a certain subfraction of patients may not demonstrate significant abnormalities in LVEF or LVDd on periodic echocardiographic follow-up.