scholarly journals NovelSMAD3Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Kristi K. Fitzgerald ◽  
Abdul Majeed Bhat ◽  
Katrina Conard ◽  
James Hyland ◽  
Christian Pizarro
Keyword(s):  
Aortic Aneurysm ◽  
Hypoplastic Left Heart Syndrome ◽  
Congenital Heart ◽  
Pathogenic Mutation ◽  
Ascending Aorta ◽  
Left Heart ◽  
Hypoplastic Left Heart ◽  
First Case ◽  
Aortic Aneurysm And Dissection ◽  
Left Heart Syndrome

Aneurysms-osteoarthritis syndrome (AOS) caused by haploinsufficiency ofSMAD3is a recently described cause of syndromic familial thoracic aortic aneurysm and dissection (TAAD). We identified a novelSMAD3mutation in a patient with hypoplastic left heart syndrome (HLHS) who developed progressive aortic aneurysm requiring surgical replacement of the neoaortic root, ascending aorta, and proximal aortic arch. Family screening for the mutation revealed that his father, who has vascular and skeletal features of AOS, and his brother, who is asymptomatic, also have the pathogenic mutation. This is the first case report of aSMAD3mutation in a patient with hypoplastic left heart syndrome. This case highlights the importance of genetic testing for known causes of aneurysm in patients with congenital heart disease who develop aneurysmal disease as it may significantly impact the management of those patients and their family members.

scholarly journals Surgical palliation for an infant with hypoplastic left heart syndrome and congenital lobar emphysema: a case report

2021 ◽  
Vol 3 (1) ◽  
pp. 01-04
Author(s):  
Raj Sahulee
Keyword(s):  
Congenital Heart Disease ◽  
Hypoplastic Left Heart Syndrome ◽  
Congenital Heart ◽  
Left Heart ◽  
Hypoplastic Left Heart ◽  
Congenital Lobar Emphysema ◽  
First Case ◽  
Surgical Palliation ◽  
Lobar Emphysema ◽  
Left Heart Syndrome

Hypoplastic left heart syndrome is a form of congenital heart disease that is associated with significant lifelong morbidity and mortality. Although rarely reported together, the prognosis for patients with hypoplastic left heart syndrome and congenital anomalies of the airway or lung, such as congenital diaphragmatic hernia, has been shown to be very poor. The outcomes for patients with hypoplastic left heart syndrome and congenital lobar emphysema specifically is currently unknown. Reported herein is the first case of a child with a rare combination of hypoplastic left heart syndrome and congenital lobar emphysema, and a discussion of his presentation, diagnosis, management and outcome to date.

Hypoplastic Left Heart Syndrome: Natural History in a Geographically Defined Population

PEDIATRICS ◽  
1990 ◽  
Vol 85 (6) ◽  
pp. 977-983
Author(s):  
Cynthia D. Morris ◽  
Jacquelyn Outcalt ◽  
Victor D. Menashe
Keyword(s):  
Natural History ◽  
Hypoplastic Left Heart Syndrome ◽  
Congenital Heart ◽  
Heart Defects ◽  
Norwood Procedure ◽  
Secular Change ◽  
Left Heart ◽  
Hypoplastic Left Heart ◽  
History Of ◽  
Left Heart Syndrome

Advances in surgical treatment of hypoplastic left heart syndrome with the Norwood procedure and cardiac transplantation have made essential the understanding of the natural history of hypoplastic left heart syndrome. In a geographically defined population, we ascertained the prevalence of hypoplastic left heart syndrome in children born in Oregon from 1971 through 1986. Clinical and anatomic data were extracted from the charts of the 98 affected children and the survival rate was calculated. Hypoplastic left heart syndrome occurred in 0.162 per 1000 live births in Oregon during this period. No syndrome complex was prevalent and 84% were free of other congenital malformations. However, there was an increased occurrence of congenital heart defects in first-degree relatives of probands with hypoplastic left heart syndrome. Of the affected children 15 ± 4% died on the first day of life, 70 ± 5% died within the first week, and 91 ± 3% died within 30 days. No secular change in survival occurred during the study. Palliation with the Norwood procedure was performed in 20 children. Although survival was significantly improved with this surgery (P = .01), the effect was observed principally through 30 days of life and only one of these children remains alive. Hypoplastic left heart syndrome is a lethal congenital heart defect in children and poses management and ethical dilemmas.

scholarly journals Assessment of Structural and Functional Abnormalities of the Myocardium and the Ascending Aorta in Fetus with Hypoplastic Left Heart Syndrome

2016 ◽  
Vol 2016 ◽  
pp. 1-9
Author(s):  
Yan Jiang ◽  
Yali Xu ◽  
Jinliang Tang ◽  
Hongmei Xia
Keyword(s):  
Hypoplastic Left Heart Syndrome ◽  
Left Ventricular ◽  
Ascending Aorta ◽  
Left Heart ◽  
Hypoplastic Left Heart ◽  
Histological Changes ◽  
Left Heart Syndrome ◽  
Rv Function ◽  
Normal Controls ◽  
Pulmonary Artery Diameter

Aims. To detect anatomical and intrinsic histopathological features of the ascending aorta and left ventricular (LV) myocardium and evaluate right ventricular (RV) function in fetuses with hypoplastic left heart syndrome (HLHS).Methods. Twenty-five fetuses diagnosed with HLHS were followed up in the antenatal and postpartum periods. 12 necropsy heart specimens were analyzed for morphological and histological changes.Results. Prenatal echocardiography and pathologic anatomy displayed the typical characteristics of HLHS as a severe underdevelopment of the LV in the form of mitral stenosis or atresia or as aortic atresia or stenosis, with a decreased ratio of aortic diameter to pulmonary artery diameter (median of 0.49 with a range of 0.24 to 0.69,p≤0.001) and a higher ratio of RV diameter to LV diameter (median of 2.44 with a range of 1.33 to 6.25,p≤0.001). The RV volume, stroke volume, and cardiac output in HLHS fetuses were increased compared with the gestational age-matched normal controls (p<0.01). Histological changes in the 12 HLHS specimens included LV myocardial fibrosis, aortic elastic fragmentation, and fibrosis.Conclusions. In addition to severe anatomical deformity, distinct histological abnormalities in the LV myocardium and aortic wall were identified in the fetuses with HLHS. RV function damage may be potentially exists.

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