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Cardiomyopathy, familial restrictive, 3(RCM3)

MedGen UID:
382807
Concept ID:
C2676271
Disease or Syndrome
Synonym: TNNT2-Related Familial Restrictive Cardiomyopathy
 
Gene (location): TNNT2 (1q32.1)
 
Monarch Initiative: MONDO:0012900
OMIM®: 612422

Definition

Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).

Adults with familial restrictive cardiomyopathy typically first develop shortness of breath, fatigue, and a reduced ability to exercise. Some individuals have an irregular heart beat (arrhythmia) and may also experience a sensation of fluttering or pounding in the chest (palpitations) and dizziness. Abnormal blood clots are commonly seen in adults with this condition. Without treatment, approximately one-third of adults with familial restrictive cardiomyopathy do not survive more than five years after diagnosis.

In people with familial restrictive cardiomyopathy, the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.

Familial restrictive cardiomyopathy can appear anytime from childhood to adulthood. The first signs and symptoms of this condition in children are failure to gain weight and grow at the expected rate (failure to thrive), extreme tiredness (fatigue), and fainting. Children who are severely affected may also have abnormal swelling or puffiness (edema), increased blood pressure, an enlarged liver, an abnormal buildup of fluid in the abdominal cavity (ascites), and lung congestion. Some children with familial restrictive cardiomyopathy do not have any obvious signs or symptoms, but they may die suddenly due to heart failure. Without treatment, the majority of affected children survive only a few years after they are diagnosed. [from MedlinePlus Genetics]

Clinical features

From HPO
Aortic aneurysm
MedGen UID:
362
Concept ID:
C0003486
Disease or Syndrome
Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.
Restrictive cardiomyopathy
MedGen UID:
40111
Concept ID:
C0007196
Disease or Syndrome
Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.
Hypotension
MedGen UID:
5715
Concept ID:
C0020649
Finding
Low Blood Pressure, vascular hypotension.
Left axis deviation
MedGen UID:
534423
Concept ID:
C0232297
Finding
A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees.
Right atrial enlargement
MedGen UID:
677114
Concept ID:
C0748427
Disease or Syndrome
Increase in size of the right atrium.
Reduced left ventricular ejection fraction
MedGen UID:
868398
Concept ID:
C4022792
Finding
A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.
Abnormal ST segment
MedGen UID:
868594
Concept ID:
C4022993
Anatomical Abnormality
An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment.
Myocardial sarcomeric disarray
MedGen UID:
1625775
Concept ID:
C4531190
Finding
A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Dellefave-Castillo LM, Cirino AL, Callis TE, Esplin ED, Garcia J, Hatchell KE, Johnson B, Morales A, Regalado E, Rojahn S, Vatta M, Nussbaum RL, McNally EM
JAMA Cardiol 2022 Sep 1;7(9):966-974. doi: 10.1001/jamacardio.2022.2455. PMID: 35947370Free PMC Article
Ellepola CD, Knight LM, Fischbach P, Deshpande SR
Pediatr Cardiol 2018 Mar;39(3):491-500. Epub 2017 Nov 29 doi: 10.1007/s00246-017-1779-2. PMID: 29188317
Purcell JA
AACN Clin Issues Crit Care Nurs 1990 May;1(1):31-45. doi: 10.4037/15597768-1990-1004. PMID: 2192756

Recent clinical studies

Etiology

Saturi G, De Frutos F, Sguazzotti M, Gonzalez-Lopez E, Nardi E, Domínguez F, Ponziani A, Cabrera E, Caponetti AG, Lozano S, Massa P, Cobo-Marcos M, Accietto A, Castro-Urda V, Giovannetti A, Toquero J, Gagliardi C, Gómez-Bueno M, Rios-Tamayo R, Biagini E, Segovia J, Galiè N, García-Pavía P, Longhi S
Heart 2023 Dec 15;110(1):40-48. doi: 10.1136/heartjnl-2022-322315. PMID: 37414523
Dellefave-Castillo LM, Cirino AL, Callis TE, Esplin ED, Garcia J, Hatchell KE, Johnson B, Morales A, Regalado E, Rojahn S, Vatta M, Nussbaum RL, McNally EM
JAMA Cardiol 2022 Sep 1;7(9):966-974. doi: 10.1001/jamacardio.2022.2455. PMID: 35947370Free PMC Article
Hendren NS, Roth LR, Grodin JL
Curr Heart Fail Rep 2020 Jun;17(3):77-83. doi: 10.1007/s11897-020-00457-z. PMID: 32356182
Mavrogeni S, Markousis-Mavrogenis G, Markussis V, Kolovou G
Horm Metab Res 2015 Aug;47(9):623-32. Epub 2015 Jul 21 doi: 10.1055/s-0035-1555913. PMID: 26197853
Meyer S, van der Meer P, van Tintelen JP, van den Berg MP
Eur J Heart Fail 2014 Mar;16(3):238-47. Epub 2014 Jan 16 doi: 10.1002/ejhf.15. PMID: 24464619

Diagnosis

Kim MJ, Cha S, Baek JS, Yu JJ, Seo GH, Kang M, Do HS, Lee SE, Lee BH
BMC Med Genomics 2023 Oct 30;16(1):270. doi: 10.1186/s12920-023-01639-z. PMID: 37904158Free PMC Article
Bagnall RD, Singer ES, Wacker J, Nowak N, Ingles J, King I, Macciocca I, Crowe J, Ronan A, Weintraub RG, Semsarian C
Circ Genom Precis Med 2022 Dec;15(6):e003686. Epub 2022 Oct 11 doi: 10.1161/CIRCGEN.121.003686. PMID: 36252119
Chintanaphol M, Orgil BO, Alberson NR, Towbin JA, Purevjav E
Rev Cardiovasc Med 2022 Mar 17;23(3):108. doi: 10.31083/j.rcm2303108. PMID: 35345275
Rubin J, Maurer MS
Annu Rev Med 2020 Jan 27;71:203-219. doi: 10.1146/annurev-med-052918-020140. PMID: 31986086
Meyer S, van der Meer P, van Tintelen JP, van den Berg MP
Eur J Heart Fail 2014 Mar;16(3):238-47. Epub 2014 Jan 16 doi: 10.1002/ejhf.15. PMID: 24464619

Therapy

Saturi G, De Frutos F, Sguazzotti M, Gonzalez-Lopez E, Nardi E, Domínguez F, Ponziani A, Cabrera E, Caponetti AG, Lozano S, Massa P, Cobo-Marcos M, Accietto A, Castro-Urda V, Giovannetti A, Toquero J, Gagliardi C, Gómez-Bueno M, Rios-Tamayo R, Biagini E, Segovia J, Galiè N, García-Pavía P, Longhi S
Heart 2023 Dec 15;110(1):40-48. doi: 10.1136/heartjnl-2022-322315. PMID: 37414523
Buchan SA, Seo CY, Johnson C, Alley S, Kwong JC, Nasreen S, Calzavara A, Lu D, Harris TM, Yu K, Wilson SE
JAMA Netw Open 2022 Jun 1;5(6):e2218505. doi: 10.1001/jamanetworkopen.2022.18505. PMID: 35749115Free PMC Article
Rubin J, Maurer MS
Annu Rev Med 2020 Jan 27;71:203-219. doi: 10.1146/annurev-med-052918-020140. PMID: 31986086
Puggia I, Merlo M, Barbati G, Rowland TJ, Stolfo D, Gigli M, Ramani F, Di Lenarda A, Mestroni L, Sinagra G
J Am Heart Assoc 2016 Jun 30;5(7) doi: 10.1161/JAHA.116.003450. PMID: 27364989Free PMC Article
Elliott P, Charron P, Blanes JR, Tavazzi L, Tendera M, Konté M, Laroche C, Maggioni AP; EORP Cardiomyopathy Registry Pilot Investigators
Eur Heart J 2016 Jan 7;37(2):164-73. Epub 2015 Sep 25 doi: 10.1093/eurheartj/ehv497. PMID: 26409010

Prognosis

Kim MJ, Cha S, Baek JS, Yu JJ, Seo GH, Kang M, Do HS, Lee SE, Lee BH
BMC Med Genomics 2023 Oct 30;16(1):270. doi: 10.1186/s12920-023-01639-z. PMID: 37904158Free PMC Article
Saturi G, De Frutos F, Sguazzotti M, Gonzalez-Lopez E, Nardi E, Domínguez F, Ponziani A, Cabrera E, Caponetti AG, Lozano S, Massa P, Cobo-Marcos M, Accietto A, Castro-Urda V, Giovannetti A, Toquero J, Gagliardi C, Gómez-Bueno M, Rios-Tamayo R, Biagini E, Segovia J, Galiè N, García-Pavía P, Longhi S
Heart 2023 Dec 15;110(1):40-48. doi: 10.1136/heartjnl-2022-322315. PMID: 37414523
Bagnall RD, Singer ES, Wacker J, Nowak N, Ingles J, King I, Macciocca I, Crowe J, Ronan A, Weintraub RG, Semsarian C
Circ Genom Precis Med 2022 Dec;15(6):e003686. Epub 2022 Oct 11 doi: 10.1161/CIRCGEN.121.003686. PMID: 36252119
Dellefave-Castillo LM, Cirino AL, Callis TE, Esplin ED, Garcia J, Hatchell KE, Johnson B, Morales A, Regalado E, Rojahn S, Vatta M, Nussbaum RL, McNally EM
JAMA Cardiol 2022 Sep 1;7(9):966-974. doi: 10.1001/jamacardio.2022.2455. PMID: 35947370Free PMC Article
Rubin J, Maurer MS
Annu Rev Med 2020 Jan 27;71:203-219. doi: 10.1146/annurev-med-052918-020140. PMID: 31986086

Clinical prediction guides

Saturi G, De Frutos F, Sguazzotti M, Gonzalez-Lopez E, Nardi E, Domínguez F, Ponziani A, Cabrera E, Caponetti AG, Lozano S, Massa P, Cobo-Marcos M, Accietto A, Castro-Urda V, Giovannetti A, Toquero J, Gagliardi C, Gómez-Bueno M, Rios-Tamayo R, Biagini E, Segovia J, Galiè N, García-Pavía P, Longhi S
Heart 2023 Dec 15;110(1):40-48. doi: 10.1136/heartjnl-2022-322315. PMID: 37414523
Lu C, Wu W, Liu F, Yang K, Li J, Liu Y, Wang R, Si N, Gao P, Liu Y, Zhang S, Zhang X
J Transl Med 2018 Aug 30;16(1):241. doi: 10.1186/s12967-018-1605-5. PMID: 30165862Free PMC Article
Ellepola CD, Knight LM, Fischbach P, Deshpande SR
Pediatr Cardiol 2018 Mar;39(3):491-500. Epub 2017 Nov 29 doi: 10.1007/s00246-017-1779-2. PMID: 29188317
Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J; FORGE Canada Consortium, Gerull B
Hum Mutat 2016 Mar;37(3):269-79. Epub 2016 Jan 8 doi: 10.1002/humu.22942. PMID: 26666891
Mogensen J, Hey T, Lambrecht S
Can J Cardiol 2015 Nov;31(11):1377-85. Epub 2015 Jun 23 doi: 10.1016/j.cjca.2015.06.015. PMID: 26440512

Recent systematic reviews

Mogensen J, Hey T, Lambrecht S
Can J Cardiol 2015 Nov;31(11):1377-85. Epub 2015 Jun 23 doi: 10.1016/j.cjca.2015.06.015. PMID: 26440512

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