Familial Membranous Subaortic Stenosis

Urbach, Joseph; Glaser, Joram; Balkin, Jonathan; Rosenmann, David; Levy, Rachelle; Marin, G.; Vidne, Bernardo A.

doi:10.1159/000173876

“…In each of three families there were two affected children [2,7], while in one family DMSS occurred in three sibs [7]. Parental consanguinity has been documented in two published families [7] and in the present family. In two other families DMSS occurred in the mother and daughter and in the uncle and nephew [6].…”

Section: E1 Habbal Mh (1991) Discrete Subaortic Stenosis In a Newbornsupporting

confidence: 49%

“…Gale AW, Cartmill TB, Bernstein L (1974) Familial subaortic membranous stenosis. Parental consanguinity has been documented in two published families [7] and in the present family. Gewillig M, Daenen W, Dumoulin M, Van der Hauwaert L (1992) Sir: Discrete membranous subaortic stenosis (DMSS) is an uncommon cardiac defect occurring mostly as an isolated lesion of obscure aetiology [3].…”

supporting

confidence: 50%

“…We are aware of other families with DMSS in which affected sibs were born to unaffected parents [2,7]. In each of three families there were two affected children [2,7], while in one family DMSS occurred in three sibs [7].…”

Section: E1 Habbal Mh (1991) Discrete Subaortic Stenosis In a Newbornmentioning

confidence: 99%

“…">E1 Habbal MH (1991) Discrete subaortic stenosis in a newborn. Two-dimensional and Doppler echocardiography revealed a DMSS with a 45 mm Hg gradient between the left ventricle and aorta and trivial aortic regurgitation.We are aware of other families with DMSS in which affected sibs were born to unaffected parents [2,7]. Gale AW, Cartmill TB, Bernstein L (1974) Familial subaortic membranous stenosis.…”

mentioning

confidence: 99%

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Discrete membranous subaortic stenosis in siblings

Digilio

¹

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Giannotti

²

,

Marino

³

et al. 1993

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References E1 Habbal MH (1991) Discrete subaortic stenosis in a newborn. PediatrCardiol 12 : 243-244 2. Gale AW, Cartmill TB, Bernstein L (1974) Familial subaortic membranous stenosis. Aust NZ J Med 4:576-581 3. Gewillig M, Daenen W, Dumoulin M, Van der Hauwaert L (1992) Sir: Discrete membranous subaortic stenosis (DMSS) is an uncommon cardiac defect occurring mostly as an isolated lesion of obscure aetiology [3]. We investigated two sisters affected by DMSS whose parents were unaffected, but were second cousins suggesting autosomal recessive inheritance.The first child was born at term by Caesarian section following an uncomplicated pregnancy. Her birth weight was 3750g. She underwent two-dimensional echocardiography at the age of 4 years because of a heart murmur. A diagnosis of DMSS was suggested. Echocardiography with Doppler examination at 11 years confirmed DMSS and showed mild aortic regurgitation with a left ventricle-aortic gradient of 60 mm Hg. At 11 years of age this defect was successfully corrected. No additional major defect or significant dysmorphism was noted.The second affected sister was evaluated at 3 years of age. Apart from a heart murmur, physical examination was unremarkable. Neurological development was normal. Two-dimensional and Doppler echocardiography revealed a DMSS with a 45 mm Hg gradient between the left ventricle and aorta and trivial aortic regurgitation.We are aware of other families with DMSS in which affected sibs were born to unaffected parents [2,7]. In each of three families there were two affected children [2,7], while in one family DMSS occurred in three sibs [7]. Parental consanguinity has been documented in two published families [7] and in the present family. In two other families DMSS occurred in the mother and daughter and in the uncle and nephew [6]. In addition, recurring left ventricular outflow tract obstructions have also been found in relatives of patients with DMSS [4].Although the diagnosis of DMSS in the neonatal period is rare [1] and the lesion usually develops later, familial aggregation, parental consanguinity, and breeding experiments in Newfoundland dogs [5] have favoured a genetic origin of the disease. Familial recurrence of DMSS in at least five pairs of siblings, the concordance of an anatomical defect in familial cases, and the third and fifth degree relationships found in three families indicate an autosomal recessive inheritance in some cases. This suggestion has obvious implications for genetic counselling.Abbreviation." DMSS = discrete membranous subaortic stenosis

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“…">E1 Habbal MH (1991) Discrete subaortic stenosis in a newborn. Two-dimensional and Doppler echocardiography revealed a DMSS with a 45 mm Hg gradient between the left ventricle and aorta and trivial aortic regurgitation.We are aware of other families with DMSS in which affected sibs were born to unaffected parents [2,7]. Gale AW, Cartmill TB, Bernstein L (1974) Familial subaortic membranous stenosis.…”

mentioning

confidence: 99%

Ventilatory requirements for respiratory distress syndrome in small for gestational age infants

Thompson

¹

,

Greenough

²

,

Gamsu

³

et al. 1993

Eur J Pediatr

9

0

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References E1 Habbal MH (1991) Discrete subaortic stenosis in a newborn. PediatrCardiol 12 : 243-244 2. Gale AW, Cartmill TB, Bernstein L (1974) Familial subaortic membranous stenosis. Aust NZ J Med 4:576-581 3. Gewillig M, Daenen W, Dumoulin M, Van der Hauwaert L (1992) Sir: Discrete membranous subaortic stenosis (DMSS) is an uncommon cardiac defect occurring mostly as an isolated lesion of obscure aetiology [3]. We investigated two sisters affected by DMSS whose parents were unaffected, but were second cousins suggesting autosomal recessive inheritance.The first child was born at term by Caesarian section following an uncomplicated pregnancy. Her birth weight was 3750g. She underwent two-dimensional echocardiography at the age of 4 years because of a heart murmur. A diagnosis of DMSS was suggested. Echocardiography with Doppler examination at 11 years confirmed DMSS and showed mild aortic regurgitation with a left ventricle-aortic gradient of 60 mm Hg. At 11 years of age this defect was successfully corrected. No additional major defect or significant dysmorphism was noted.The second affected sister was evaluated at 3 years of age. Apart from a heart murmur, physical examination was unremarkable. Neurological development was normal. Two-dimensional and Doppler echocardiography revealed a DMSS with a 45 mm Hg gradient between the left ventricle and aorta and trivial aortic regurgitation.We are aware of other families with DMSS in which affected sibs were born to unaffected parents [2,7]. In each of three families there were two affected children [2,7], while in one family DMSS occurred in three sibs [7]. Parental consanguinity has been documented in two published families [7] and in the present family. In two other families DMSS occurred in the mother and daughter and in the uncle and nephew [6]. In addition, recurring left ventricular outflow tract obstructions have also been found in relatives of patients with DMSS [4].Although the diagnosis of DMSS in the neonatal period is rare [1] and the lesion usually develops later, familial aggregation, parental consanguinity, and breeding experiments in Newfoundland dogs [5] have favoured a genetic origin of the disease. Familial recurrence of DMSS in at least five pairs of siblings, the concordance of an anatomical defect in familial cases, and the third and fifth degree relationships found in three families indicate an autosomal recessive inheritance in some cases. This suggestion has obvious implications for genetic counselling.Abbreviation." DMSS = discrete membranous subaortic stenosis

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Subvalvular aortic stenosis: a review of current literature

Devabhaktuni

¹

,

Chakfeh

²

,

Malik

³

et al. 2018

Clinical Cardiology

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Subvalvular aortic stenosis (SAS) is one of the common adult congenital heart diseases, with a prevalence of 6.5%. It is usually diagnosed in the first decade of life. Echocardiography is the test of choice to diagnose SAS. Surgical correction is the best treatment modality, and the prognosis is usually excellent. In this review, we describe the pathophysiology, diagnosis, prognosis, and management of SAS with a focus on different pathophysiologic mechanisms, diagnostic approach, and prognosis of the disease by reviewing the current literature.

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Familial Membranous Subaortic Stenosis

Cited by 16 publications

References 0 publications

Discrete membranous subaortic stenosis in siblings

Discrete membranous subaortic stenosis in siblings

Ventilatory requirements for respiratory distress syndrome in small for gestational age infants

Subvalvular aortic stenosis: a review of current literature

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