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Congenital heart defects, multiple types, 3(CHTD3)

MedGen UID:
767108
Concept ID:
C3554194
Disease or Syndrome
Synonyms: CHTD3; CONGENITAL HEART DEFECTS, MULTIPLE TYPES, WITH CARDIAC RHYTHM AND CONDUCTION DISTURBANCES
 
Monarch Initiative: MONDO:0013988
OMIM®: 614954

Definition

Multiple types of congenital heart defects-3 (CHTD3) is an autosomal dominant condition characterized by various types of congenital heart defects and low atrial rhythm (van de Meerakker et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955. [from OMIM]

Clinical features

From HPO
Atrial fibrillation
MedGen UID:
445
Concept ID:
C0004238
Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
Atrioventricular block
MedGen UID:
13956
Concept ID:
C0004245
Disease or Syndrome
Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.
Atrioventricular dissociation
MedGen UID:
2496
Concept ID:
C0004331
Pathologic Function
Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance.
Abnormal heart morphology
MedGen UID:
6748
Concept ID:
C0018798
Congenital Abnormality
Any structural anomaly of the heart.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Tachycardia
MedGen UID:
21453
Concept ID:
C0039231
Finding
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
Tetralogy of Fallot
MedGen UID:
21498
Concept ID:
C0039685
Congenital Abnormality
People 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.\n\nEach 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.
Right bundle branch block
MedGen UID:
88445
Concept ID:
C0085615
Disease or Syndrome
A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.
Persistent left superior vena cava
MedGen UID:
75586
Concept ID:
C0265931
Congenital Abnormality
A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.

Professional guidelines

PubMed

Hancock HS, Romano JC, Armstrong A, Yu S, Lowery R, Gelehrter S
World J Pediatr Congenit Heart Surg 2018 Jul;9(4):434-439. doi: 10.1177/2150135118771344. PMID: 29945508
Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090
Chun K, Colombani PM, Dudgeon DL, Haller JA Jr
Ann Thorac Surg 1992 Apr;53(4):597-602; discussion 602-3. doi: 10.1016/0003-4975(92)90317-w. PMID: 1554267

Recent clinical studies

Etiology

Tambi R, Zehra B, Nandkishore S, Sharafat S, Kader F, Nassir N, Mohamed N, Ahmed A, Abdel Hameid R, Alasrawi S, Brueckner M, Kuebler WM, Chung WK, Alsheikh-Ali A, Di Donato RM, Uddin M, Berdiev BK
Physiol Genomics 2023 Dec 1;55(12):634-646. Epub 2023 Oct 9 doi: 10.1152/physiolgenomics.00070.2023. PMID: 37811720
Preskorn SH
J Psychiatr Pract 2019 Jul;25(4):290-297. doi: 10.1097/PRA.0000000000000399. PMID: 31291209
Baldacci S, Gorini F, Santoro M, Pierini A, Minichilli F, Bianchi F
Epidemiol Prev 2018 May-Aug;42(3-4 Suppl 1):1-34. doi: 10.19191/EP18.3-4.S1.P001.057. PMID: 30066535
Yuan SM
Cardiol J 2013;20(2):121-4. doi: 10.5603/CJ.2013.0023. PMID: 23558868
Campbell KH, Copel JA, Ozan Bahtiyar M
Minerva Ginecol 2009 Jun;61(3):239-44. PMID: 19415067

Diagnosis

Stoll C, Alembik Y, Roth MP
Am J Med Genet A 2022 Jun;188(6):1700-1715. Epub 2022 Feb 18 doi: 10.1002/ajmg.a.62689. PMID: 35179301
Digilio MC, Calcagni G, Gnazzo M, Versacci P, Dentici ML, Capolino R, Sinibaldi L, Baban A, Putotto C, Alfieri P, Unolt M, Lepri FR, Alesi V, Genovese S, Novelli A, Marino B, Dallapiccola B
Am J Med Genet A 2022 Apr;188(4):1149-1159. Epub 2021 Dec 31 doi: 10.1002/ajmg.a.62632. PMID: 34971082
Baldacci S, Gorini F, Santoro M, Pierini A, Minichilli F, Bianchi F
Epidemiol Prev 2018 May-Aug;42(3-4 Suppl 1):1-34. doi: 10.19191/EP18.3-4.S1.P001.057. PMID: 30066535
Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090
Yuan SM
Cardiol J 2013;20(2):121-4. doi: 10.5603/CJ.2013.0023. PMID: 23558868

Therapy

Quinn BP, Yeh M, Gauvreau K, Ali F, Balzer D, Barry O, Batlivala S, Berman D, Foerster S, Goldstein B, Hainstock M, Holzer R, Janssen D, O'Byrne ML, Shirley L, Trucco S, Whiteside W, Bergersen L
J Am Heart Assoc 2022 Jan 4;11(1):e022832. Epub 2021 Dec 22 doi: 10.1161/JAHA.121.022832. PMID: 34935425Free PMC Article
Preskorn SH
J Psychiatr Pract 2019 Jul;25(4):290-297. doi: 10.1097/PRA.0000000000000399. PMID: 31291209
Baldacci S, Gorini F, Santoro M, Pierini A, Minichilli F, Bianchi F
Epidemiol Prev 2018 May-Aug;42(3-4 Suppl 1):1-34. doi: 10.19191/EP18.3-4.S1.P001.057. PMID: 30066535
Yuki K, Casta A, Uezono S
J Anesth 2011 Apr;25(2):247-56. Epub 2011 Jan 1 doi: 10.1007/s00540-010-1081-4. PMID: 21197552
Campbell KH, Copel JA, Ozan Bahtiyar M
Minerva Ginecol 2009 Jun;61(3):239-44. PMID: 19415067

Prognosis

Tambi R, Zehra B, Nandkishore S, Sharafat S, Kader F, Nassir N, Mohamed N, Ahmed A, Abdel Hameid R, Alasrawi S, Brueckner M, Kuebler WM, Chung WK, Alsheikh-Ali A, Di Donato RM, Uddin M, Berdiev BK
Physiol Genomics 2023 Dec 1;55(12):634-646. Epub 2023 Oct 9 doi: 10.1152/physiolgenomics.00070.2023. PMID: 37811720
Preskorn SH
J Psychiatr Pract 2019 Jul;25(4):290-297. doi: 10.1097/PRA.0000000000000399. PMID: 31291209
Vener DF, Gaies M, Jacobs JP, Pasquali SK
World J Pediatr Congenit Heart Surg 2017 Jan;8(1):77-87. doi: 10.1177/2150135116681730. PMID: 28033081
Yuan SM
Cardiol J 2013;20(2):121-4. doi: 10.5603/CJ.2013.0023. PMID: 23558868
Campbell KH, Copel JA, Ozan Bahtiyar M
Minerva Ginecol 2009 Jun;61(3):239-44. PMID: 19415067

Clinical prediction guides

Tambi R, Zehra B, Nandkishore S, Sharafat S, Kader F, Nassir N, Mohamed N, Ahmed A, Abdel Hameid R, Alasrawi S, Brueckner M, Kuebler WM, Chung WK, Alsheikh-Ali A, Di Donato RM, Uddin M, Berdiev BK
Physiol Genomics 2023 Dec 1;55(12):634-646. Epub 2023 Oct 9 doi: 10.1152/physiolgenomics.00070.2023. PMID: 37811720
Preskorn SH
J Psychiatr Pract 2019 Jul;25(4):290-297. doi: 10.1097/PRA.0000000000000399. PMID: 31291209
Ellesøe SG, Workman CT, Bouvagnet P, Loffredo CA, McBride KL, Hinton RB, van Engelen K, Gertsen EC, Mulder BJM, Postma AV, Anderson RH, Hjortdal VE, Brunak S, Larsen LA
Eur Heart J 2018 Mar 21;39(12):1015-1022. doi: 10.1093/eurheartj/ehx314. PMID: 29106500Free PMC Article
Digilio MC, Gnazzo M, Lepri F, Dentici ML, Pisaneschi E, Baban A, Passarelli C, Capolino R, Angioni A, Novelli A, Marino B, Dallapiccola B
Am J Med Genet A 2017 Nov;173(11):2912-2922. Epub 2017 Sep 8 doi: 10.1002/ajmg.a.38417. PMID: 28884922
Campbell KH, Copel JA, Ozan Bahtiyar M
Minerva Ginecol 2009 Jun;61(3):239-44. PMID: 19415067

Recent systematic reviews

Restrepo CS, Gonzalez TV, Baxi AJ, Saboo SS
Tomography 2022 Jul 27;8(4):1947-1958. doi: 10.3390/tomography8040163. PMID: 36006061Free PMC Article
Yang L, Tai BC, Khin LW, Quek SC
J Interv Cardiol 2014 Jun;27(3):260-72. Epub 2014 Apr 29 doi: 10.1111/joic.12121. PMID: 24773223

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