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Critical pulmonary stenosis in two successive siblings
International Journal of Cardiology 87 (2003) 297–299 www.elsevier.com / locate / ijcard
Letter to the Editor
Critical pulmonary stenosis in two successive siblings a a a, a b Jong-hau Hsu , Zen-kong Dai , Jiunn-ren Wu *, Chu-chong Lu , Chaw-chi Chiu , Huai-min Chen b , Chung-i Chang c a
Department of Pediatrics, Kaohsiung Medical University Hospital, No. 100, Shih-Chung 1 st Road San-Ming District Kaohsiung 807, Taiwan b Department of Surgery, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan c Department of Surgery, National Taiwan University Hospital, Taipei, Taiwan Received 9 May 2002; accepted 19 May 2002
The incidence of congenital heart defects (CHDs) is less than 1% [1]. Most CHDs are thought to be multifactorially determined, but a small fraction of CHDs are due to genetic causes. Familial occurrences of the majority of CHDs have been reported, and empiric recurrence risks for siblings of a child with a CHD ranged from 1 to 10% [1]. For further understanding of inheritance mode in CHDs, it is useful to have an opportunity to study a family with identical lesions. Critical pulmonary stenosis often manifests as profound cyanosis and heart failure, which may be life threatening and requires urgent transcatheter or surgical intervention in the neonatal stage [2]. We report on two successively born—a sister and her brother with this critical disease. To our knowledge, this is the first report of siblings with critical pulmonary stenosis; accordingly, it is suggested that autosomal recessive inheritance of this defect is possible in our cases. Case 1 was a 4550-g term female infant born to healthy nonconsanguineous parents. The family history revealed no relatives with CHD. The infant was delivered after a normal pregnancy and was noted to be cyanotic a couple of hours after birth with O 2 saturation of 65%. Physical examination showed a grade 2 / 6 systolic murmur over left lower sternal *Corresponding author. Tel.: 1886-7-311-5104; fax: 1886-7-3213931. E-mail address: [email protected] (J.R. Wu).
border. A chest radiograph showed cardiomegaly and oligemic lung field and a 12-lead ECG demonstrated left ventricular predominance. Her echocardiogram disclosed tripartite type of pulmonary atresia with intact ventricular septum, a restrictive patent foramen ovale and ductal dependent pulmonary flow. Cardiac catheterization showed that the right ventricular pressure was suprasystemic (120 mmHg) and critical pulmonary stenosis was diagnosed due to only a string-like flow across the nearly atretic pulmonary valve during right ventriculogram. A Rashkind balloon atrial septostomy was performed. This infant then underwent surgical total correction at 10 days of age and the diagnosis was verified in operation. However, this patient unfortunately died 3 h after the operation because of pulmonary hypertensive crisis. Case 2, a brother of case 1, was born 2 years later after an uncomplicated pregnancy with a birthweight of 3550 g. The findings of clinical features, echocardiography, catheterization and angiography (Fig. 1A and B) were similar with those of case 1 suggesting the diagnosis of critical pulmonary valve stenosis. In the second day of life, we performed Rashkind balloon atrial septostomy and pulmonary balloon valvuloplasty. We used initially a 0.014-inch soft tip guidewire to advance through the nearly atretic pulmonary valve and then used balloon catheters with diameters of 2, 4, 6 and 9 mm width sequentially to dilate the pulmonary valve (Fig. 2A and B). After these interventions, the systemic O 2
0167-5273 / 02 / $ – see front matter 2002 Elsevier Science Ireland Ltd. All rights reserved. PII: S0167-5273( 02 )00352-2
298
J.H. Hsu et al. / International Journal of Cardiology 87 (2003) 297–299
Fig. 1. (A) Anteroposterior and (B) lateral views of right ventriculogram in case 2 disclosed only a string-like shunt across severely stenotic pulmonary valve; RV, right ventricle; RA, right atrium; PA, pulmonary artery.
saturation increased from 74 to 95%. However, desaturation developed again 1 month later because of progressive right ventricular hypertrophy and infundibular stenosis. The infant underwent surgical total correction at the age of 40 days. The postoperative course was uneventfully and the boy is 17months old now with regular follow-up in our hospital. The chromosome karyotypes of case 2 and the parents were all normal. Familial association of CHDs is unusual. Except for idiopathic hypertrophic subaortic stenosis, inheritance of specific cardiac defect is always confined to familial syndromes, in which cardiac abnormalities
Fig. 2. After balloon valvuloplasty, the pulmonary valve was dilated with sufficient antegrade blood flow in (A) anteroposterior and (B) lateral views. RV, right ventricle; RA, right atrium; PA, pulmonary artery.
are associated with anomalies involving several other systems. Although familial occurrence of pulmonary valve stenosis is frequent in Noonan or Leopard syndrome, familial recurrence of isolated pulmonary valve stenosis is uncommon [3]. Case reports dealing with recurrence of tetralogy of Fallot with pulmonary atresia, pulmonary atresia with intact ventricular septum or noncritical pulmonary stenosis in siblings
J.H. Hsu et al. / International Journal of Cardiology 87 (2003) 297–299
have been published in Refs. [4–6], respectively. Unlike previous reports, our two siblings were both isolated critical pulmonary valve stenosis rather than mild or moderate stenosis and were without associated cardiac lesions. In recent years, the hereditary factor has been recognized as one of important etiologies in CHDs, however, the patterns of inheritance are still unclear. This family is unique in that the two siblings were the only offsprings and were born successively of healthy parents. None of these two siblings or their parents had any psychophysical defects suggestive of Noonan or Leopard syndrome. To our knowledge, this is the first report of isolated critical pulmonary valve stenosis in a family. Although multifactorial determination cannot be ruled out, a recurrence of exactly the same lesion in siblings suggests autosomal recessive inheritance.
299
References [1] Nora JJ, Nora AH. Update on counseling the family with a firstdegree relative with a congenital heart defect. Am J Med Genet 1988;29:137–42. [2] Wang JK, Wu MH, Lee WL, Cheng CF, Lue HC. Balloon dilatation of critical pulmonary stenosis. Int J Cardiol 1999;69:27–32. [3] McCarron WE, Perloff JK. Familial congenital valvular pulmonary stenosis. Am Heart J 1974;88:357–9. [4] Wulfsberg EA, Zintz EJ, Moore JW. The inheritance of conotruncal malformaitons: a review and report of two siblings with tetralogy of Fallot with pulmonary atresia. Clin Genet 1991;40:12–6. [5] Chitaya D, McIntosh N, Fouron JC. Pulmonary atresia with intact ventricular septum and hypoplastic right heart in sibs: a single gene disorder? Am J Med Genet 1992;42:304–6. [6] Driscoll DJ, Michels VV, Gersony WM et al. Occurrence risk for congenital heart defects in relatives of patients with aortic stenosis, pulmonary stenosis, or ventricular septal defect. Circulation 1993;87(Suppl. 1):114–20.
Letter to the Editor
Critical pulmonary stenosis in two successive siblings a a a, a b Jong-hau Hsu , Zen-kong Dai , Jiunn-ren Wu *, Chu-chong Lu , Chaw-chi Chiu , Huai-min Chen b , Chung-i Chang c a
Department of Pediatrics, Kaohsiung Medical University Hospital, No. 100, Shih-Chung 1 st Road San-Ming District Kaohsiung 807, Taiwan b Department of Surgery, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan c Department of Surgery, National Taiwan University Hospital, Taipei, Taiwan Received 9 May 2002; accepted 19 May 2002
The incidence of congenital heart defects (CHDs) is less than 1% [1]. Most CHDs are thought to be multifactorially determined, but a small fraction of CHDs are due to genetic causes. Familial occurrences of the majority of CHDs have been reported, and empiric recurrence risks for siblings of a child with a CHD ranged from 1 to 10% [1]. For further understanding of inheritance mode in CHDs, it is useful to have an opportunity to study a family with identical lesions. Critical pulmonary stenosis often manifests as profound cyanosis and heart failure, which may be life threatening and requires urgent transcatheter or surgical intervention in the neonatal stage [2]. We report on two successively born—a sister and her brother with this critical disease. To our knowledge, this is the first report of siblings with critical pulmonary stenosis; accordingly, it is suggested that autosomal recessive inheritance of this defect is possible in our cases. Case 1 was a 4550-g term female infant born to healthy nonconsanguineous parents. The family history revealed no relatives with CHD. The infant was delivered after a normal pregnancy and was noted to be cyanotic a couple of hours after birth with O 2 saturation of 65%. Physical examination showed a grade 2 / 6 systolic murmur over left lower sternal *Corresponding author. Tel.: 1886-7-311-5104; fax: 1886-7-3213931. E-mail address: [email protected] (J.R. Wu).
border. A chest radiograph showed cardiomegaly and oligemic lung field and a 12-lead ECG demonstrated left ventricular predominance. Her echocardiogram disclosed tripartite type of pulmonary atresia with intact ventricular septum, a restrictive patent foramen ovale and ductal dependent pulmonary flow. Cardiac catheterization showed that the right ventricular pressure was suprasystemic (120 mmHg) and critical pulmonary stenosis was diagnosed due to only a string-like flow across the nearly atretic pulmonary valve during right ventriculogram. A Rashkind balloon atrial septostomy was performed. This infant then underwent surgical total correction at 10 days of age and the diagnosis was verified in operation. However, this patient unfortunately died 3 h after the operation because of pulmonary hypertensive crisis. Case 2, a brother of case 1, was born 2 years later after an uncomplicated pregnancy with a birthweight of 3550 g. The findings of clinical features, echocardiography, catheterization and angiography (Fig. 1A and B) were similar with those of case 1 suggesting the diagnosis of critical pulmonary valve stenosis. In the second day of life, we performed Rashkind balloon atrial septostomy and pulmonary balloon valvuloplasty. We used initially a 0.014-inch soft tip guidewire to advance through the nearly atretic pulmonary valve and then used balloon catheters with diameters of 2, 4, 6 and 9 mm width sequentially to dilate the pulmonary valve (Fig. 2A and B). After these interventions, the systemic O 2
0167-5273 / 02 / $ – see front matter 2002 Elsevier Science Ireland Ltd. All rights reserved. PII: S0167-5273( 02 )00352-2
298
J.H. Hsu et al. / International Journal of Cardiology 87 (2003) 297–299
Fig. 1. (A) Anteroposterior and (B) lateral views of right ventriculogram in case 2 disclosed only a string-like shunt across severely stenotic pulmonary valve; RV, right ventricle; RA, right atrium; PA, pulmonary artery.
saturation increased from 74 to 95%. However, desaturation developed again 1 month later because of progressive right ventricular hypertrophy and infundibular stenosis. The infant underwent surgical total correction at the age of 40 days. The postoperative course was uneventfully and the boy is 17months old now with regular follow-up in our hospital. The chromosome karyotypes of case 2 and the parents were all normal. Familial association of CHDs is unusual. Except for idiopathic hypertrophic subaortic stenosis, inheritance of specific cardiac defect is always confined to familial syndromes, in which cardiac abnormalities
Fig. 2. After balloon valvuloplasty, the pulmonary valve was dilated with sufficient antegrade blood flow in (A) anteroposterior and (B) lateral views. RV, right ventricle; RA, right atrium; PA, pulmonary artery.
are associated with anomalies involving several other systems. Although familial occurrence of pulmonary valve stenosis is frequent in Noonan or Leopard syndrome, familial recurrence of isolated pulmonary valve stenosis is uncommon [3]. Case reports dealing with recurrence of tetralogy of Fallot with pulmonary atresia, pulmonary atresia with intact ventricular septum or noncritical pulmonary stenosis in siblings
J.H. Hsu et al. / International Journal of Cardiology 87 (2003) 297–299
have been published in Refs. [4–6], respectively. Unlike previous reports, our two siblings were both isolated critical pulmonary valve stenosis rather than mild or moderate stenosis and were without associated cardiac lesions. In recent years, the hereditary factor has been recognized as one of important etiologies in CHDs, however, the patterns of inheritance are still unclear. This family is unique in that the two siblings were the only offsprings and were born successively of healthy parents. None of these two siblings or their parents had any psychophysical defects suggestive of Noonan or Leopard syndrome. To our knowledge, this is the first report of isolated critical pulmonary valve stenosis in a family. Although multifactorial determination cannot be ruled out, a recurrence of exactly the same lesion in siblings suggests autosomal recessive inheritance.
299
References [1] Nora JJ, Nora AH. Update on counseling the family with a firstdegree relative with a congenital heart defect. Am J Med Genet 1988;29:137–42. [2] Wang JK, Wu MH, Lee WL, Cheng CF, Lue HC. Balloon dilatation of critical pulmonary stenosis. Int J Cardiol 1999;69:27–32. [3] McCarron WE, Perloff JK. Familial congenital valvular pulmonary stenosis. Am Heart J 1974;88:357–9. [4] Wulfsberg EA, Zintz EJ, Moore JW. The inheritance of conotruncal malformaitons: a review and report of two siblings with tetralogy of Fallot with pulmonary atresia. Clin Genet 1991;40:12–6. [5] Chitaya D, McIntosh N, Fouron JC. Pulmonary atresia with intact ventricular septum and hypoplastic right heart in sibs: a single gene disorder? Am J Med Genet 1992;42:304–6. [6] Driscoll DJ, Michels VV, Gersony WM et al. Occurrence risk for congenital heart defects in relatives of patients with aortic stenosis, pulmonary stenosis, or ventricular septal defect. Circulation 1993;87(Suppl. 1):114–20.