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Testicular anomalies with or without congenital heart disease(TACHD)

MedGen UID:
816188
Concept ID:
C3809858
Disease or Syndrome
Synonym: TACHD
 
Gene (location): GATA4 (8p23.1)
 
Monarch Initiative: MONDO:0014239
OMIM®: 615542

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Microphallus
MedGen UID:
66816
Concept ID:
C0240701
Finding
Length of penis more than 2 SD below the mean for age accompanied by hypospadias.
Ambiguous genitalia
MedGen UID:
78596
Concept ID:
C0266362
Congenital Abnormality
A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale
Testicular dysgenesis
MedGen UID:
86232
Concept ID:
C0302885
Finding
Perineal hypospadias
MedGen UID:
105292
Concept ID:
C0452148
Congenital Abnormality
Hypospadias with location of the urethral meatus in the perineal region.
Corpus cavernosum hypoplasia
MedGen UID:
816190
Concept ID:
C3809860
Congenital Abnormality
A developmental anomaly characterized by undergrowth of the corpus cavernosum.
Tetralogy of Fallot
MedGen UID:
21498
Concept ID:
C0039685
Congenital Abnormality
Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Abnormality of thyroid physiology
MedGen UID:
808233
Concept ID:
C0857576
Finding
An abnormal functionality of the thyroid gland.

Professional guidelines

PubMed

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Recent clinical studies

Etiology

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Diagnosis

Scott M, Neal AE
Prim Care 2021 Sep;48(3):351-366. Epub 2021 Jul 8 doi: 10.1016/j.pop.2021.04.005. PMID: 34311844
Meller CH, Grinenco S, Aiello H, Córdoba A, Sáenz-Tejeira MM, Marantz P, Otaño L
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Cell Biochem Biophys 2015 Jul;72(3):857-60. doi: 10.1007/s12013-015-0551-6. PMID: 25638345

Therapy

Porter GA Jr
Adv Exp Med Biol 2024;1441:397-416. doi: 10.1007/978-3-031-44087-8_20. PMID: 38884722
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Can J Cardiol 2022 Jul;38(7):862-896. Epub 2022 Apr 20 doi: 10.1016/j.cjca.2022.03.021. PMID: 35460862
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Int J Cardiol 2022 Jun 15;357:39-45. Epub 2022 Mar 10 doi: 10.1016/j.ijcard.2022.03.018. PMID: 35283250
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Prognosis

Levy PT, Thomas AR, Wethall A, Perez D, Steurer M, Ball MK
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Cardiol Clin 2016 Aug;34(3):391-400. doi: 10.1016/j.ccl.2016.04.002. PMID: 27443136
van der Bom T, Zomer AC, Zwinderman AH, Meijboom FJ, Bouma BJ, Mulder BJ
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Clinical prediction guides

Mcleod G, Shum K, Gupta T, Chakravorty S, Kachur S, Bienvenu L, White M, Shah SB
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Recent systematic reviews

Gaudino M, Di Franco A, Arbustini E, Bacha E, Bates ER, Cameron DE, Cao D, David TE, De Paulis R, El-Hamamsy I, Farooqi KM, Girardi LN, Gräni C, Kochav JD, Molossi S, Puskas JD, Rao SV, Sandner S, Tatoulis J, Truong QA, Weinsaft JW, Zimpfer D, Mery CM
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Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
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