Absent Pulmonary Valve with Intact Ventricular Septum Presenting as Cardiorespiratory Failure at Birth

Horigome, Hitoshi; Sakakibara, Yuzuru; Atsumi, N; Miyamoto, Tomoyuki; Sato, Hironori

doi:10.1007/s002469900132

Cited by 14 publications

(8 citation statements)

References 12 publications

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“…Diagnosis in late childhood [3], adult life [10] and in the elderly [11] has been reported. However, severe respiratory distress and signs of congestive heart failure may develop early after birth when a large patent ductus arteriosus is present [12]. In these neonates, early surgical closure of the ductus is strongly recommended, as it usually improves hemodynamic conditions, allowing a delay in surgical interventions on the pulmonary valve [13].…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis and postnatal outcome in patients with absent pulmonary valve syndrome not associated with tetralogy of Fallot: report of one case and review of the literature

Favilli

Lapi²,

Pollini³

et al. 2008

Journal of Cardiovascular Medicine

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Echocardiographic diagnosis of absent pulmonary valve syndrome and muscular ventricular septal defect was made in a fetus of gestational age 25 weeks referred for marked dilation of the right ventricle at obstetric ultrasound examination. Delivery was planned in a tertiary-level center. The neonate became severely symptomatic for respiratory distress and heart failure during the second day of life. His clinical condition dramatically improved after surgical closure of a large ductus arteriosus. The child is still asymptomatic 30 months later. In the minority of cases with absent pulmonary valve not associated with tetralogy of Fallot, irrespective of the presence of muscular ventricular septal defect, early closure of the ductus may be crucial to improve hemodynamic conditions and postpone surgical correction.

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Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis and postnatal outcome in patients with absent pulmonary valve syndrome not associated with tetralogy of Fallot: report of one case and review of the literature

Favilli

Lapi²,

Pollini³

et al. 2008

Journal of Cardiovascular Medicine

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show abstract

“…3,4 Other associated anomalies include persistent patency of the arterial duct, atrial septal defect, right ventricular hypoplasia, double outlet right ventricle, tricuspid atresia and others. 9,[12][13][14][15][16] In our group, 11 patients (61%) had an associated ventricular septal defect, all considered to be in the setting of tetralogy of Fallot, four patients (22%) had no associated cardiac anomaly, and three patients (17%) had persistent patency of the arterial duct with intact ventricular septum, one of them with an additional atrial septal defect.…”

Section: Discussionmentioning

confidence: 99%

“…Only isolated cases have been reported where cardiorespiratory distress developed during the neonatal period, leading to early diagnosis. [13][14][15][16]21 All of our patients with a ventricular septal defect were diagnosed in infancy, with four-fifths of them exhibiting symptoms early in life. This group is characterized by a stormy clinical presentation, severe respiratory symptoms, and high morbidity and mortality.…”

Section: August 2004mentioning

confidence: 99%

Clinical presentation, natural history, and outcome of patients with the absent pulmonary valve syndrome

et al. 2004

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So-called 'absent pulmonary valve syndrome' is a rare cardiac malformation, usually associated with tetralogy of Fallot. Congenital absence of the leaflets of the pulmonary valve is less common when the ventricular septum is intact. Characteristic features of the syndrome include dysplasia or absence of the pulmonary valvar leaflets, permitting severe pulmonary regurgitation, and aneurysmal dilation of the pulmonary arteries. The purpose of our study was to review our experience with patients diagnosed as having the absent pulmonary valve syndrome, and to describe their clinical presentation, natural history, and outcome. We reviewed retrospectively data from 18 patients with absent pulmonary valve syndrome, 10 boys and eight girls, treated between March 1983 and May 2003. We identified two groups of patients, one made up of 11 patients with a ventricular septal defect, in whom the morphology of the subpulmonary outflow tract was phenotypic for tetralogy of Fallot, and another group, with seven patients, having an intact ventricular septum. Family history of congenital heart disease was common only in patients with ventricular septal defect, being found in 73%, all of whom were diagnosed during infancy with variable respiratory distress. Diagnosis was delayed in 43% of the patients with an intact ventricular septum. Cardiac surgery was performed in eight patients with ventricular septal defect (73%), compared to only two patients (28%) with an intact ventricular septum. Overall mortality was 28%, with five patients dying. Although our sample was small, two clinical patterns emerged depending on the presence or absence of a ventricular septal defect. Patients with a ventricular septal defect and phenotypic features of tetralogy of Fallot have a strong family history of congenital cardiac disease, develop respiratory symptoms during infancy and exhibit a variable prognosis, despite cardiac surgery. Patients with an intact ventricular septum are usually asymptomatic, present later in life, and show a relatively benign prognosis.

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“…APV is more frequently associated with tetralogy of Fallot (TOF) [Emmanoulidis et al, 1976]. Nevertheless, a less frequent form of APV with intact ventricular septum (IVS) and patent ductus arteriosus (PDA) is also described [Horigome et al, 1997;Podzimkova et al, 1997]. Extracardiac anomalies in genetic syndromes have been reported with APV.…”

Section: To the Editormentioning

confidence: 98%

Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: A specific cardiac phenotype associated with deletion 18q syndrome

Versacci

Digilio

Sauer

et al. 2005

American J of Med Genetics Pt A

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Absent Pulmonary Valve with Intact Ventricular Septum Presenting as Cardiorespiratory Failure at Birth

Cited by 14 publications

References 12 publications

Prenatal diagnosis and postnatal outcome in patients with absent pulmonary valve syndrome not associated with tetralogy of Fallot: report of one case and review of the literature

Prenatal diagnosis and postnatal outcome in patients with absent pulmonary valve syndrome not associated with tetralogy of Fallot: report of one case and review of the literature

Clinical presentation, natural history, and outcome of patients with the absent pulmonary valve syndrome

Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: A specific cardiac phenotype associated with deletion 18q syndrome

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