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Hypoplastic Right Heart Syndrome Genetics

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Hypoplastic right heart syndrome genetics. Hypoplastic right heart syndrome HRHS is a rare congenital defect characterized by underdeveloped and malformed structures of the right heart. Although a genetic etiology is indicated by an increased recurrence risk. At birth oxygen-rich blood bypasses the underdeveloped left side of the heart going through openings between the left and right side.

Genetic Heterogeneity of Hypoplastic Left Heart Syndrome. 1Department of Cardiac Surgery Fuwai Hospital Chinese Academy of Medical Sciences Peking Union Medical College Beijing 100037 Peoples Republic of China. The lower area called the ventricle is too small or weak.

Familial recurrence of HRHS indicates genetic factors contribute to its etiology. Hypoplastic right heart syndrome HRHS is a rare congenital defect characterized by underdeveloped and malformed structures of the right heart. Here we show that hypoplastic left heart syndrome HLHS a severe CHD is multigenic and genetically heterogeneous.

The underdeveloped right side of the heart. Familial recurrence of HRHS indicates genetic factors contribute to its etiology. 1 The management of hypoplastic left heart syndrome is controversial.

A 32-year-old woman with a noncontributory medical and family history terminated her first pregnancy after the fetus was diagnosed with hypoplastic left heart syndrome. Although a genetic etiology is indicated by an increased recurrence risk sporadic occurrence suggests that CHD genetics is complex. Wang E Nie Y Fan X Zheng Z Gu H Zhang H Hu S.

Minor alleles of genetic variants in second heart field increase the risk of hypoplastic right heart syndrome. Congenital heart disease CHD affects up to 1 of live births. HRHS may also change how other parts of the heart develop such as.

Hypoplastic right heart syndrome is a rare cyanotic congenital present at birth heart disease with under-development of the right ventricle tricuspid valve pulmonary valve and pulmonary artery leading to right-to-left shunting of the blood through inter-atrial septal defect 1The underdeveloped right side of the heart is unable to provide. Hypoplastic left heart syndrome is one of the most therapeutically challenging congenital cardiac defects.

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HRHS may also change how other parts of the heart develop such as.

Hypoplastic left heart syndrome HLHS is a heart condition present from birth congenital heart defectIn HLHS the hearts left side including the aorta aortic valve left ventricle and mitral valve is underdeveloped. Familial recurrence of HRHS indicates genetic factors contribute to its etiology. Hypoplastic right heart syndrome HRHS is a rare congenital defect characterized by underdeveloped and malformed structures of the right heart. Here we show that hypoplastic left heart syndrome HLHS a severe CHD is multigenic and genetically heterogeneous. Wang E Nie Y Fan X Zheng Z Gu H Zhang H Hu S. Although a genetic etiology is indicated by an increased recurrence risk sporadic occurrence suggests that CHD genetics is complex. Our study investigates the presence of copy number variants CNVs in HRHS cases. Hypoplastic left heart syndrome is one of the most therapeutically challenging congenital cardiac defects. Minor alleles of genetic variants in second heart field increase the risk of hypoplastic right heart syndrome.


Hypoplastic left heart syndrome is one of the most therapeutically challenging congenital cardiac defects. Congenital heart disease CHD affects up to 1 of live births. Here we show that hypoplastic left heart syndrome HLHS a severe CHD is multigenic and genetically heterogeneous. Our study investigates the presence of copy number variants CNVs in HRHS cases. The underdeveloped right side of the heart. Minor alleles of genetic variants in second heart field increase the risk of hypoplastic right heart syndrome. Reports of recurrent isolated hypoplastic left heart syndrome have been infrequent and the genetic basis of this occurrence is not well understood.

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