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Hypoplastic left atrium

MedGen UID:
370300
Concept ID:
C1970625
Anatomical Abnormality; Finding
Synonyms: Left atrium hypoplasia; Underdeveloped left heart atrium
 
HPO: HP:0005156

Definition

Underdeveloped, small left heart atrium [from HPO]

Conditions with this feature

Matthew-Wood syndrome
MedGen UID:
318679
Concept ID:
C1832661
Disease or Syndrome
Syndromic microphthalmia-9 (MCOPS9), also referred to as pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect, is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac malformations, and diaphragmatic defects. The phenotype is variable, ranging from isolated clinical anophthalmia or microphthalmia to complex presentations involving the cardiac, pulmonary, diaphragmatic, and renal systems. At its most severe, infants are born without pulmonary structures and die soon after birth (Marcadier et al., 2015).
Microphthalmia, syndromic 12
MedGen UID:
816133
Concept ID:
C3809803
Disease or Syndrome
Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome.

Professional guidelines

PubMed

Peng R, Xie HN, Zhu YX, Li LJ, Du L, Zheng J
J Ultrasound Med 2014 Jul;33(7):1155-61. doi: 10.7863/ultra.33.7.1155. PMID: 24958401
Glatz JA, Tabbutt S, Gaynor JW, Rome JJ, Montenegro L, Spray TL, Rychik J
Ann Thorac Surg 2007 Nov;84(5):1633-8. doi: 10.1016/j.athoracsur.2007.06.061. PMID: 17954074
Bacha EA, Kreutzer J
J Interv Cardiol 2001 Jun;14(3):367-75. doi: 10.1111/j.1540-8183.2001.tb00346.x. PMID: 12053398

Recent clinical studies

Etiology

Chartrand C
Ann Thorac Surg 1991 Sep;52(3):716-21. doi: 10.1016/0003-4975(91)90986-z. PMID: 1898179
Chartrand C, Guerin R, Kangah M, Stanley P
J Heart Transplant 1990 Nov-Dec;9(6):608-16; discussion 616-7. PMID: 2277296

Diagnosis

Lee ML, Chiu IS, Wu MH, Wang JK, Lue HC, Chaou WT, Tsao LY
Int J Cardiol 1998 Nov 30;67(1):1-7. doi: 10.1016/s0167-5273(98)00247-2. PMID: 9880195

Prognosis

Chartrand C
Ann Thorac Surg 1991 Sep;52(3):716-21. doi: 10.1016/0003-4975(91)90986-z. PMID: 1898179

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