Hirofumi Tomimatsu

Cardiac Involvement in Fukuyama-type Congenital Muscular Dystrophy

BACKGROUND. Fukuyama-type congenital muscular dystrophy is an autosomal recessive disorder characterized by generalized skeletal muscle weakness and hypotonia from early infancy and by mental retardation. Little is known about cardiac involvement in patients with Fukuyama-type congenital muscular dystrophy. This study evaluated whether cardiac involvement exists in patients with Fukuyama-type congenital muscular dystrophy. METHODS AND RESULTS. We evaluated left ventricular function using M-mode and Doppler echocardiography in 34 patients with Fukuyama-type congenital muscular dystrophy. The age ranged from 6 months to 30 years (median: 6 years). A total of 64 recordings were analyzed. Left ventricular dimensions and parameters of systolic function measured included left ventricular end-diastolic dimension, left ventricular fractional shortening, left ventricular wall thickness, and the mean velocity of circumferential fiber shortening and end-systolic wall stress relationship. Left ventricular end-diastolic dimension z score >2 was observed in 2 patients (6%). Left ventricular fractional shortening <0.28 and/or reduced mean velocity of circumferential fiber shortening in the mean velocity of circumferential fiber shortening-end-systolic wall stress relationship were observed in 16 patients (47%). A significant correlation between age and left ventricular fractional shortening was observed, and left ventricular fractional shortening decreased with age. Of 12 patients >15 years of age, 10 (83%) showed decreased left ventricular systolic function. Left ventricular fractional shortening was normal in most patients <10 years of age, and it was reduced in most patients >15 years of age. Five patients died of heart failure or respiratory problems, and a histologic examination confirmed the presence of myocardial fibrosis. No patients showed increased left ventricular wall thickness or a conduction abnormality on electrocardiograms. CONCLUSION. Cardiac involvement exists in patients with Fukuyama-type congenital muscular dystrophy and becomes evident in older children in the second decade. A cardiac evaluation, including echocardiograms and subsequent follow-up, is important, especially in patients >10 years of age.

Outcomes from anomalous origin of the left coronary artery from the pulmonary artery repair: Long-term complications in relation to residual myocardial abnormalities

BACKGROUND Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital coronary artery irregularity. This study aimed to clarify the long-term postoperative outcomes in ALCAPA patients, and to compare the infantile and adult types. METHODS We retrospectively analyzed the clinical data from 33 patients with ALCAPA who underwent surgical repairs after 1980. The patients were grouped based on whether presentation occurred before (infantile type: n=14) or after (adult type: n=19) 1 year of age. RESULTS The mean follow-up duration was 16 years. Preoperatively, the infantile type had greater impairment of the left ventricle ejection fraction (LVEF) (45±15%) compared with the adult type (59±10%) (p<0.01). Coronary revascularization significantly improved the postoperative LVEF (67±5%) (p<0.01) in the patients with the infantile type. The postoperative LVEF did not change in the adult type. The mitral regurgitation (MR) severity improved postoperatively, but the between-group difference was not significant. Postoperatively, none of the patients with the infantile type and 37% of the patients with the adult type had left ventricular asynergy (p=0.01), and both groups showed postoperative perfusion defects (79% vs 95%, p=0.29). Compared with the infantile type, the adult type had a significant prognostic value for composite cardiovascular events that comprised cardiac death, arrhythmias, MR deterioration, and hospitalization as a consequence of heart failure (p=0.04). CONCLUSIONS Most patients showed favorable clinical outcomes postoperatively, but myocardial damage remained long after surgery and cardiovascular events occurred postoperatively. Hence, meticulous long-term follow-up is warranted.

Long-term Outcomes after Truncus Arteriosus Repair: A Single-center Experience for More than 40 Years

OBJECTIVES This study aimed to analyze long-term survival and functional outcomes after truncus arteriosus repair in a single institution with more than 40 years of follow-up. METHODS Medical records were analyzed retrospectively in 52 patients who underwent the Rastelli procedure for truncus arteriosus repair between 1974 and 2002. Thirty-five patients survived the initial repair. The median age at the initial operation was 2.8 months (range, 0.1-123 months) and the body weight was 3.9 kg (range, 1.6 to 15.0 kg). RESULTS The median age at follow-up was 23.6 years (range, 12.4 to 44.5 years). The median follow-up duration was 23.4 years (range, 12.3 to 40.7 years). The actuarial survival rate was 97% at 10 years and 93% at both 20 years and 40 years after the initial operation. At follow-up, most patients were in New York Heart Association (NYHA) functional classes I (73%) and II (24%). Thirty-six percent of patients had full-time jobs, 40% were students, and 21% were unemployed. Most patients (97%) had undergone conduit reoperations. Freedom from reoperation for right ventricular (RV) outflow and pulmonary artery (PA) stenosis was 59% at 5 years, 28% at 10 years, and 3% at 20 years after the initial operation. Freedom from catheter interventions for RV outflow and PA stenosis was 59% at 5 years, 47% at 10 years, and 38% at 20 years after the initial operation. Freedom from truncal valve replacement was 88% at 5 years, 85% at 10 years, and 70% at 20 years after the initial operation. CONCLUSIONS In this single-center retrospective study, with long-term follow-up after repair of truncus arteriosus, long-term survival and functional outcomes were acceptable, despite the requirement for reoperation and multiple catheter interventions for RV outflow and PA stenosis in almost all patients, and the frequent requirement for late truncal valve operations.

Effects of interventricular shunt on indices of left ventricular function.

ABSTRACT. The accuracies of indices of left ventricle function were examined in an open-chest model in dogs with and without a ventricular septal defect, in which the ventricular shunt was opened and reclosed by a specially designed flowmeter probe with a cap. The systolic time interval, the maximal rate of pressure development in the left ventricle (+LV dP/dt), +LV dP/dt corrected for the isometric pressure (+LV dP/dt /Pd), and the time to +LV dP/dt (t-dP/dt) were determined by recording the aortic flow, ventricular shunt flow, aortic pressure, pulmonary arterial pressure, and left ventricular pressure. The isometric contraction time, the preejectional period, and the ejection time shortened with decrease of the mean aortic pressure and aortic flow, and the mean pulmonary arterial pressure increased after opening the ventricular shunt. When the pulse was varied by atrial pacing, the systolic time interval was affected in dogs both with and without a ventricular septal defect, but “isometric contraction time” was not affected in animals with a ventricular septal defect. Dopamine and methoxamine were used to evaluate the effects of the inotropic state and afterload on these indices. The extents of the changes in the systolic time interval and +LV dP/dt were different in animals with and without a ventricular septal defect, but the changes in preejectional period/ejection time, +LV dP/dt/Pd and t-dP/dt were similar in the two conditions. These results suggest that the systolic time interval and the indices of left ventricular pressure are useful in assessment of cardiac function only in certain conditions.

Pregnancy and delivery outcomes from patients with repaired anomalous origin of the left coronary artery from the pulmonary artery

We investigated the clinical courses before and during pregnancy and after delivery in patients with repaired anomalous origin of the left coronary artery from the pulmonary artery to determine the impact of the hemodynamic changes and cardiac function on the selection of the appropriate mode of delivery.

Influence of pregnancy on cardiac function and hemodynamics in women with Ebstein's anomaly

We examined the perinatal outcomes and right ventricular function before pregnancy, during pregnancy, and after delivery in women with Ebsteins anomaly.

Assessment of mechanical dyssynchrony in fulminant myocarditis

It is often difficult to assess ventricular synchrony in patients with fulminant myocarditis. We report a pediatric case of fulminant myocarditis where clinical course and changes in dyssynchrony were followed with speckle tracking echocardiography. Dyssynchrony of the left ventricle changed day by day. It was useful to assess the progression of ventricular damage and its recovery.