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Hypomagnesemia 7, renal, with or without dilated cardiomyopathy(HOMG7)

MedGen UID:
1824039
Concept ID:
C5774266
Disease or Syndrome
Synonym: HOMG7
 
Gene (location): RRAGD (6q15)
 
Monarch Initiative: MONDO:0859328
OMIM®: 620152

Definition

Renal hypomagnesemia-7 with or without dilated cardiomyopathy (HOMG7) is characterized primarily by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia. Many patients develop nephrocalcinosis, although renal function is generally well-preserved. The age at onset is highly variable, ranging from infancy to young adulthood. A subset of patients develop severe dilated cardiomyopathy as early as in infancy, which may require heart transplant (Schlingmann et al., 2021). For a discussion of genetic heterogeneity of hypomagnesemia, see 602014. [from OMIM]

Clinical features

From HPO
Nephrocalcinosis
MedGen UID:
10222
Concept ID:
C0027709
Disease or Syndrome
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Polyuria
MedGen UID:
19404
Concept ID:
C0032617
Sign or Symptom
An increased rate of urine production.
Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
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.
Elevated left ventricular end-diastolic diameter
MedGen UID:
1815064
Concept ID:
C5706158
Finding
The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Tetany
MedGen UID:
11748
Concept ID:
C0039621
Finding
A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.
Hypocalcemia
MedGen UID:
5705
Concept ID:
C0020598
Disease or Syndrome
An abnormally decreased calcium concentration in the blood.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Hyponatremia
MedGen UID:
6984
Concept ID:
C0020625
Finding
An abnormally decreased sodium concentration in the blood.
Hypomagnesemia
MedGen UID:
57481
Concept ID:
C0151723
Disease or Syndrome
An abnormally decreased magnesium concentration in the blood.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.

Professional guidelines

PubMed

Heymans S, Lakdawala NK, Tschöpe C, Klingel K
Lancet 2023 Sep 16;402(10406):998-1011. doi: 10.1016/S0140-6736(23)01241-2. PMID: 37716772
Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, Bezzina CR, Biagini E, Blom NA, de Boer RA, De Winter T, Elliott PM, Flather M, Garcia-Pavia P, Haugaa KH, Ingles J, Jurcut RO, Klaassen S, Limongelli G, Loeys B, Mogensen J, Olivotto I, Pantazis A, Sharma S, Van Tintelen JP, Ware JS, Kaski JP; ESC Scientific Document Group
Eur Heart J 2023 Oct 1;44(37):3503-3626. doi: 10.1093/eurheartj/ehad194. PMID: 37622657
Lampejo T, Durkin SM, Bhatt N, Guttmann O
Clin Med (Lond) 2021 Sep;21(5):e505-e510. doi: 10.7861/clinmed.2021-0121. PMID: 34507935Free PMC Article

Recent clinical studies

Etiology

Harding D, Chong MHA, Lahoti N, Bigogno CM, Prema R, Mohiddin SA, Marelli-Berg F
J Intern Med 2023 Jan;293(1):23-47. Epub 2022 Aug 27 doi: 10.1111/joim.13556. PMID: 36030368
Merlo M, Cannatà A, Gobbo M, Stolfo D, Elliott PM, Sinagra G
Eur J Heart Fail 2018 Feb;20(2):228-239. Epub 2017 Dec 22 doi: 10.1002/ejhf.1103. PMID: 29271570
McNally EM, Mestroni L
Circ Res 2017 Sep 15;121(7):731-748. doi: 10.1161/CIRCRESAHA.116.309396. PMID: 28912180Free PMC Article
Weintraub RG, Semsarian C, Macdonald P
Lancet 2017 Jul 22;390(10092):400-414. Epub 2017 Feb 10 doi: 10.1016/S0140-6736(16)31713-5. PMID: 28190577
Japp AG, Gulati A, Cook SA, Cowie MR, Prasad SK
J Am Coll Cardiol 2016 Jun 28;67(25):2996-3010. doi: 10.1016/j.jacc.2016.03.590. PMID: 27339497

Diagnosis

Heymans S, Lakdawala NK, Tschöpe C, Klingel K
Lancet 2023 Sep 16;402(10406):998-1011. doi: 10.1016/S0140-6736(23)01241-2. PMID: 37716772
Orphanou N, Papatheodorou E, Anastasakis A
Heart Fail Rev 2022 Jul;27(4):1173-1191. Epub 2021 Jul 14 doi: 10.1007/s10741-021-10139-0. PMID: 34263412Free PMC Article
McNally EM, Mestroni L
Circ Res 2017 Sep 15;121(7):731-748. doi: 10.1161/CIRCRESAHA.116.309396. PMID: 28912180Free PMC Article
Weintraub RG, Semsarian C, Macdonald P
Lancet 2017 Jul 22;390(10092):400-414. Epub 2017 Feb 10 doi: 10.1016/S0140-6736(16)31713-5. PMID: 28190577
Japp AG, Gulati A, Cook SA, Cowie MR, Prasad SK
J Am Coll Cardiol 2016 Jun 28;67(25):2996-3010. doi: 10.1016/j.jacc.2016.03.590. PMID: 27339497

Therapy

Harding D, Chong MHA, Lahoti N, Bigogno CM, Prema R, Mohiddin SA, Marelli-Berg F
J Intern Med 2023 Jan;293(1):23-47. Epub 2022 Aug 27 doi: 10.1111/joim.13556. PMID: 36030368
Morales A, Kinnamon DD, Jordan E, Platt J, Vatta M, Dorschner MO, Starkey CA, Mead JO, Ai T, Burke W, Gastier-Foster J, Jarvik GP, Rehm HL, Nickerson DA, Hershberger RE; DCM Precision Medicine study of the DCM Consortium; DCM Consortium institutions and personnel participating in this study: Study Principal Investigator and Co-Investigators,DCM Consortium Clinical Site Principal Investigators and Clinical Site Other Significant Contributors (OSC). The following clinical sites and individuals contributed to the submission of RO 1 H L 128857 as Site Principal Investigators (Site Pl) or as Other Significant Contributors (OSC),Dr. Huggins also served as study co-principal investigator,The following clinical site was added following approval of NHGRI supplemental funding but prior to initiation of enrollment,The following clinical sites were added following study activation
Circ Genom Precis Med 2020 Apr;13(2):e002480. Epub 2020 Mar 11 doi: 10.1161/CIRCGEN.119.002480. PMID: 32160020Free PMC Article
Halliday BP, Wassall R, Lota AS, Khalique Z, Gregson J, Newsome S, Jackson R, Rahneva T, Wage R, Smith G, Venneri L, Tayal U, Auger D, Midwinter W, Whiffin N, Rajani R, Dungu JN, Pantazis A, Cook SA, Ware JS, Baksi AJ, Pennell DJ, Rosen SD, Cowie MR, Cleland JGF, Prasad SK
Lancet 2019 Jan 5;393(10166):61-73. Epub 2018 Nov 11 doi: 10.1016/S0140-6736(18)32484-X. PMID: 30429050Free PMC Article
Bonnet D, Berger F, Jokinen E, Kantor PF, Daubeney PEF
J Am Coll Cardiol 2017 Sep 5;70(10):1262-1272. doi: 10.1016/j.jacc.2017.07.725. PMID: 28859790
Weintraub RG, Semsarian C, Macdonald P
Lancet 2017 Jul 22;390(10092):400-414. Epub 2017 Feb 10 doi: 10.1016/S0140-6736(16)31713-5. PMID: 28190577

Prognosis

Li X, Zhang X, Zeng Z, Mai W, Peng Z, Li B, Hong W, Liu Y, Shu F, Tang J, Xu L, Tan N, Ma J, Jiang L
J Cardiovasc Med (Hagerstown) 2023 Oct 1;24(10):752-757. Epub 2023 Aug 4 doi: 10.2459/JCM.0000000000001530. PMID: 37577864Free PMC Article
Roberts WC, Jeong M
Am J Cardiol 2021 Oct 15;157:101-106. Epub 2021 Aug 13 doi: 10.1016/j.amjcard.2021.07.023. PMID: 34392891
Verdonschot JAJ, Hazebroek MR, Krapels IPC, Henkens MTHM, Raafs A, Wang P, Merken JJ, Claes GRF, Vanhoutte EK, van den Wijngaard A, Heymans SRB, Brunner HG
Circ Genom Precis Med 2020 Oct;13(5):476-487. Epub 2020 Sep 3 doi: 10.1161/CIRCGEN.120.003031. PMID: 32880476
Reichart D, Magnussen C, Zeller T, Blankenberg S
J Intern Med 2019 Oct;286(4):362-372. Epub 2019 Jul 29 doi: 10.1111/joim.12944. PMID: 31132311
Tidswell M
Crit Care Clin 2004 Oct;20(4):777-88, xi. doi: 10.1016/j.ccc.2004.05.007. PMID: 15388202

Clinical prediction guides

Li S, Zhou D, Sirajuddin A, He J, Xu J, Zhuang B, Huang J, Yin G, Fan X, Wu W, Sun X, Zhao S, Arai AE, Lu M
JACC Cardiovasc Imaging 2022 Apr;15(4):578-590. Epub 2021 Sep 15 doi: 10.1016/j.jcmg.2021.07.023. PMID: 34538631
Peters S, Johnson R, Birch S, Zentner D, Hershberger RE, Fatkin D
Heart Lung Circ 2020 Apr;29(4):566-574. Epub 2019 Dec 17 doi: 10.1016/j.hlc.2019.11.018. PMID: 31974027
Marian AJ, Braunwald E
Circ Res 2017 Sep 15;121(7):749-770. doi: 10.1161/CIRCRESAHA.117.311059. PMID: 28912181Free PMC Article
McNally EM, Mestroni L
Circ Res 2017 Sep 15;121(7):731-748. doi: 10.1161/CIRCRESAHA.116.309396. PMID: 28912180Free PMC Article
Japp AG, Gulati A, Cook SA, Cowie MR, Prasad SK
J Am Coll Cardiol 2016 Jun 28;67(25):2996-3010. doi: 10.1016/j.jacc.2016.03.590. PMID: 27339497

Recent systematic reviews

Motamed M, Liblik K, Miranda-Arboleda AF, Wamboldt R, Wang CN, Cingolani O, Rebman AW, Novak CB, Aucott JN, Farina JM, Baranchuk A
Trends Cardiovasc Med 2023 Nov;33(8):531-536. Epub 2022 Jun 3 doi: 10.1016/j.tcm.2022.05.010. PMID: 35667636
Long C, Liu X, Xiong Q, Su Y, Hong K
Int Heart J 2022;63(1):36-42. doi: 10.1536/ihj.20-448. PMID: 35095074
D'Ascenzi F, Valentini F, Pistoresi S, Frascaro F, Piu P, Cavigli L, Valente S, Focardi M, Cameli M, Bonifazi M, Metra M, Mondillo S
Trends Cardiovasc Med 2022 Jul;32(5):299-308. Epub 2021 Jun 22 doi: 10.1016/j.tcm.2021.06.001. PMID: 34166791
Bian RT, Wang ZT, Li WY
Medicine (Baltimore) 2021 Jul 2;100(26):e26475. doi: 10.1097/MD.0000000000026475. PMID: 34190171Free PMC Article
Arenas DJ, Beltran S, Zhou S, Goldberg LR
Sci Rep 2020 Nov 13;10(1):19795. doi: 10.1038/s41598-020-76273-1. PMID: 33188223Free PMC Article

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