Satoshi Yasukouchi

Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers

Mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene and the activin receptor-like kinase 1 (ALK1) gene have been reported in heritable pulmonary arterial hypertension (HPAH) and idiopathic pulmonary arterial hypertension (IPAH). However, the relation between clinical characteristics and each gene mutation in IPAH and HPAH is still unclear, especially in childhood. The aim of this study was to determine, in a retrospective study, the influence and clinical outcomes of gene mutations in childhood IPAH and HPAH. Fifty-four patients with IPAH or HPAH whose onset of disease was at <16 years of age were included. Functional characteristics, hemodynamic parameters, and clinical outcomes were compared in BMPR2 and ALK1 mutation carriers and noncarriers. Overall 5-year survival for all patients was 76%. Eighteen BMPR2 mutation carriers and 7 ALK1 mutation carriers were detected in the 54 patients with childhood IPAH or HPAH. Five-year survival was lower in BMPR2 mutation carriers than mutation noncarriers (55% vs 90%, hazard ratio 12.54, p = 0.0003). ALK1 mutation carriers also had a tendency to have worse outcome than mutation noncarriers (5-year survival rate 64%, hazard ratio 5.14, p = 0.1205). In conclusion, patients with childhood IPAH or HPAH with BMPR2 mutation have the poorest clinical outcomes. ALK1 mutation carriers tended to have worse outcomes than mutation noncarriers. It is important to consider aggressive treatment for BMPR2 or ALK1 mutation carriers.

Do we need fenestration when performing two-staged total cavopulmonary connection using an extracardiac conduit?

Between August 1999 and December 2007, 72 consecutive patients with single ventricle physiology underwent a modified Fontan procedure after a bidirectional Glenn shunt using an extracardiac polytetrafluoroethylene conduit without fenestration. Nitric oxide gas inhalation was commenced just after cardiopulmonary bypass together with intravenous phosphodiesterase III inhibitor administration. After oral intake was started, pulmonary vascular dilators such as beraprost, sildenafil, bosentan were given orally according to amount of chest drainage and patients condition. After discharge, oxygen therapy at home was continued for three months. No hospital death occurred after surgery. All patients were followed by our institute and follow-up period was 44.2+/-26 (36-106.8) months. One late death occurred during this follow-up period after re-operation. Cardiac catheterization after the Fontan completion showed transpulmonary gradient of 5.9+/-2.4 mmHg, systemic output of 3.4+/-2.1 l/min m2. Arterial oxygen saturation (SaO(2)) at the latest outpatient visit was 94.4+/-3.8%. According to our clinical experience with two-staged total cavopulmonary connection using an extracardiac conduit without fenestration, fenestration in the Fontan circuit is not necessary when performing the Fontan completion. Two-staged extracardiac total cavopulmonary connection without fenestration can be satisfactorily completed with the aid of pulmonary vasodilation therapy.

Modified Starnes operation for neonatal Ebstein’s anomaly

We report the case of a severely symptomatic neonate with Ebsteins anomaly. A modified Starnes operation was performed, but insufficient drainage of venous blood returning through thebesian veins caused overdistention of the right ventricle and severe left ventricular dysfunction. Urgent reestablishment of right ventricular-right atrial communication successfully resolved these problems.

Absent aortic valve : Successful palliation in the neonate

A successful palliation of a neonate with absent aortic valve in hypoplastic left heart syndrome is reported.

Fetal Bradyarrhythmia Associated With Congenital Heart Defects : Nationwide Survey in Japan

BACKGROUND Because there is limited information on fetal bradyarrhythmia associated with congenital heart defects (CHD), we investigated its prognosis and risk factors. METHODS AND RESULTS In our previous nationwide survey of fetal bradyarrhythmia from 2002 to 2008, 38 fetuses had associated CHD. Detailed clinical data were collected from secondary questionnaires on 29 fetuses from 18 institutions, and were analyzed. The 29 fetuses included 22 with isomerism, 4 with corrected transposition of the great arteries (TGA) and 3 with critical pulmonary stenosis; 14 had complete atrioventricular block (AVB), 8 had second-degree AVB, and 16 had sick sinus syndrome; 5 died before birth, and 10 died after birth (5 in the neonatal period). Neonatal and overall survival rates for fetal bradyarrhythmia with CHD were 66% and 48%, respectively. Pacemaker implantation was needed in 17 cases (89%). Beta-sympathomimetics were administered in utero in 13 cases and were effective in 6, but were not associated with prognosis. All cases of corrected TGA or ventricular rate ≥70 beats/min survived. A ventricular rate <55 beats/min had significant effects on fetal myocardial dysfunction (P=0.02) and fetal hydrops (P=0.04), resulting in high mortality. CONCLUSIONS The prognosis of fetal bradyarrhythmia with CHD is still poor. The type of CHD, fetal myocardial dysfunction, and fetal hydrops were associated with a poor prognosis, depending on the ventricular rate.

Mitral annular aneurysm resulting from subaortic muscle resection

We present a case of mitral annular aneurysm as a very rare complication developing soon after the surgical relief of subaortic stenosis. The cause of the aneurysm was considered to be the disruption of aorto-mitral intervalvular fibrosa at the initial operation. The surgical repair was successfully performed without compromising either aortic or mitral valvular functions. The preoperative transesophageal echocardiography was useful in delineating the precise anatomic features of this rare complication.