Hypoplastic Left Heart Syndrome 1

Alternative Names

  • HLHS1
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

OMIM Number

241550

Mode of Inheritance

Autosomal recessive

Gene Map Locus

6q22.31

Description

Hypoplastic Left Heart Syndrome (HLHS) is a congenital cardiac abnormality characterized by underdevelopment of the left side of the heart. Patients with HLHS have narrowed or closed mitral valve, aortic valve; and underdeveloped aorta and left ventricle. Consequently, right side of the heart is forced to pump blood into both pulmonary and systemic circulation. In newborns, the condition is not initially apparent and become noticeable when the systemic perfusion decreases as a result of arterial duct closure. The symptoms may include: cyanosis, lethargy, weak pulse, poor feeding and breathing problems.

Mutations in the gap junction protein GJA1 (Connexin 43) has been linked to HLHS1, whereas HLHS2 is caused by mutation in NKX2-5 gene. HLHS has also been reported in several cases of trisomy 13, trisomy 18, trisomy 21, Turner's Syndrome, Holt-Oram syndrome, Smith-Lemli-Opitz syndrome and Noonan syndrome.

Epidemiology in the Arab World

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Other Reports

Lebanon

In a study conducted by Bitar et al. (1999) to assess the epidemiology of congenital heart disease at the American University of Beirut-Medical Center, a relatively low prevalence of hypoplastic left heart syndrome was observed in 2 out of 3 study groups. The study groups comprised patients seen at the outpatient cardiac clinic between 1980 and 1995 and infants born with CHD at the hospital during the year 1995.

Chéhab et al. (2005) studied 56 paediatric patients under the age of 7 who were admitted for cardiogenic shock (CS) suspicion in ten different Lebanese hospitals during a six-year period (1st January 1999 and 31 December 2004). Hypoplastic left heart syndrome was observed to be one of the main etiologies in these patients.

Yunis et al. (2006) studied a group of 173 newborns to understand the effects of consanguinity on prevalence of congenital heart defects. First-cousin marriages were found to be a significant risk factor for hypoplastic left heart.

Oman

Manzar et al. (2005) conducted a study to compare the head circumference of infants with hypoplastic left heart syndrome (HLHS) and transposition of great arteries (TGA). Head circumference of infants with HLHS was reported to be lower than the control group (term appropriate infants) and those with TGA. Significantly higher mortality rate and lower mean weight were also observed in HLHS patients as compared to the TGA group.

Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period in Nizwa Hospital. Of the 21,988 total births in the hospital, four children were born with hypoplastic left heart syndrome.

United Arab Emirates

Hosani and Czeizel (2000) calculated the incidence rate of hypoplastic left heart syndrome to be lower than 0.21 per 1000 births in the UAE National Congenital Abnormality Registry (NCAR) pilot dataset.

Hamdan et al. 2015 reported that out of 1950 pregnant women undergoing fetal echocardiography, 152 fetuses were diagnosed with congenital heart disease. 139 of these were of Arab ethnic background and 60-70% of the Arabs were of Emirati origin. Parental consanguinity was noted in 69% of the Arab cases (96/139). Findings in the cohort included left heart obstruction (n=30), conotruncal malformations (n=26), septal defects (n=22), cardiomyopathy (n=19), right heart obstruction (n=8), arrhythmia (n=8), heterodoxy syndromes (n=3), cardiac tumors (n=3) and anomalous venous connection (n=1).  

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