Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review

被引:1
作者
Micolonghi, Caterina [1 ]
Perrone, Federica [1 ,2 ]
Fabiani, Marco [1 ,3 ]
Caroselli, Silvia [1 ,4 ]
Savio, Camilla [5 ]
Pizzuti, Antonio [1 ,6 ]
Germani, Aldo [7 ]
Visco, Vincenzo [5 ,7 ]
Petrucci, Simona [5 ,6 ,7 ]
Rubattu, Speranza [5 ,7 ,8 ]
Piane, Maria [5 ,7 ]
机构
[1] Sapienza Univ Rome, Fac Med & Dent, Dept Expt Med, I-00161 Rome, Italy
[2] Ist Super Sanita, Dept Neurosci, I-00161 Rome, Italy
[3] ALTAMEDICA, Human Genet, I-00198 Rome, Italy
[4] Juno Genet, Reprod Genet, I-00188 Rome, Italy
[5] S Andrea Univ Hosp, I-00189 Rome, Italy
[6] IRCCS Mendel Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, Italy
[7] Sapienza Univ Rome, Fac Med & Psychol, Dept Clin & Mol Med, I-00189 Rome, Italy
[8] IRCCS Neuromed, I-86077 Pozzilli, Italy
关键词
cardiomyopathies; genetics; ACM; ARVC; DCM; HCM; MYOSIN HEAVY-CHAIN; GENOTYPE-PHENOTYPE CORRELATIONS; MECHANICAL STRETCH SENSOR; CONGENITAL HEART-DISEASE; DELTA-SARCOGLYCAN GENE; INTEGRIN-LINKED KINASE; ANKYRIN REPEAT PROTEIN; MUSCLE LIM PROTEIN; ALPHA-T-CATENIN; DILATED CARDIOMYOPATHY;
D O I
10.3390/ijms25189787
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Hereditary cardiomyopathies (CMPs), including arrhythmogenic cardiomyopathy (ACM), dilated cardiomyopathy (DCM), and hypertrophic cardiomyopathy (HCM), represent a group of heart disorders that significantly contribute to cardiovascular morbidity and mortality and are often driven by genetic factors. Recent advances in next-generation sequencing (NGS) technology have enabled the identification of rare variants in both well-established and minor genes associated with CMPs. Nowadays, a set of core genes is included in diagnostic panels for ACM, DCM, and HCM. On the other hand, despite their lesser-known status, variants in the minor genes may contribute to disease mechanisms and influence prognosis. This review evaluates the current evidence supporting the involvement of the minor genes in CMPs, considering their potential pathogenicity and clinical significance. A comprehensive analysis of databases, such as ClinGen, ClinVar, and GeneReviews, along with recent literature and diagnostic guidelines provides a thorough overview of the genetic landscape of minor genes in CMPs and offers guidance in clinical practice, evaluating each case individually based on the clinical referral, and insights for future research. Given the increasing knowledge on these less understood genetic factors, future studies are essential to clearly assess their roles, ultimately leading to improved diagnostic precision and therapeutic strategies in hereditary CMPs.
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  • [1] Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future
    Abbas, Mohammed Tiseer
    Ali, Nima Baba
    Farina, Juan M.
    Mahmoud, Ahmed K.
    Pereyra, Milagros
    Scalia, Isabel G.
    Kamel, Moaz A.
    Barry, Timothy
    Lester, Steven J.
    Cannan, Charles R.
    Mital, Rohit
    Wilansky, Susan
    Freeman, William K.
    Chao, Chieh-Ju
    Alsidawi, Said
    Ayoub, Chadi
    Arsanjani, Reza
    [J]. BIOMEDICINES, 2024, 12 (03)
  • [2] Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation
    Abe S.
    Takeda H.
    Nishio S.-Y.
    Usami S.-I.
    [J]. Human Genome Variation, 5 (1)
  • [3] Knock-out of nexilin in mice leads to dilated cardiomyopathy and endomyocardial fibroelastosis
    Aherrahrou, Zouhair
    Schlossarek, Saskia
    Stoelting, Stephanie
    Klinger, Matthias
    Geertz, Birgit
    Weinberger, Florian
    Kessler, Thorsten
    Aherrahrou, Redouane
    Moreth, Kristin
    Bekeredjian, Raffi
    de Angelis, Martin Hrabe
    Just, Steffen
    Rottbauer, Wolfgang
    Eschenhagen, Thomas
    Schunkert, Heribert
    Carrier, Lucie
    Erdmann, Jeanette
    [J]. BASIC RESEARCH IN CARDIOLOGY, 2016, 111 (01) : 1 - 10
  • [4] Genetic Evaluation and Screening in Cardiomyopathies: Opportunities and Challenges for Personalized Medicine
    Aiyer, Sahana
    Kalutskaya, Emilia
    Agdamag, Arianne C.
    Tang, W. H. Wilson
    [J]. JOURNAL OF PERSONALIZED MEDICINE, 2023, 13 (06):
  • [5] Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy
    Akinrinade, Oyediran
    Ollila, Laura
    Vattulainen, Sanna
    Tallila, Jonna
    Gentile, Massimiliano
    Salmenpera, Pertteli
    Koillinen, Hannele
    Kaartinen, Maija
    Nieminen, Markku S.
    Myllykangas, Samuel
    Alastalo, Tero-Pekka
    Koskenvuo, Juha W.
    Helio, Tiina
    [J]. EUROPEAN HEART JOURNAL, 2015, 36 (34) : 2327 - 2337
  • [6] Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy
    Al-Hassnan, Zuhair N.
    Almesned, Abdulrahman
    Tulbah, Sahar
    Alakhfash, Ali
    Alhadeq, Faten
    Alruwaili, Nadiah
    Alkorashy, Maarab
    Alhashem, Amal
    Alrashdan, Ahmad
    Faqeih, Eissa
    Alkhalifi, Salwa M.
    Al Humaidi, Zainab
    Sogaty, Sameera
    Azhari, Nawal
    Bakhaider, Abdulrahman M.
    Al Asmari, Ali
    Awaji, Ali
    Albash, Buthaina
    Alhabdan, Mohammed
    Alghamdi, Malak A.
    Alshuaibi, Walaa
    Al-Hassnan, Raghad Z.
    Alshenqiti, Abduljabbar
    Alqahtani, Aisha
    Shinwari, Zarghuna
    Rbabeh, Monther
    Takroni, Saud
    Alomrani, Ahmed
    Albert Brotons, Dimpna C.
    AlQwaee, Abdullah M.
    Almanea, Waleed
    Alfadley, Fadel A.
    Alfayyadh, Majid
    Alwadai, Abdullah
    [J]. CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2020, 13 (05): : 504 - 514
  • [7] First description of a novel mitochondrial mutation in the MT-TI gene associated with multiple mitochondrial DNA deletion and depletion in family with severe dilated mitochondrial cardiomyopathy
    Alila-Fersi, Olfa
    Tabebi, Mouna
    Maalej, Marwa
    Belguith, Neila
    Keskes, Leila
    Mkaouar-Rebai, Emna
    Fakhfakh, Faiza
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2018, 497 (04) : 1049 - 1054
  • [8] Lysosomal degradation ensures accurate chromosomal segregation to prevent chromosomal instability
    Almacellas, Eugenia
    Pelletier, Joffrey
    Day, Charles
    Ambrosio, Santiago
    Tauler, Albert
    Mauvezin, Caroline
    [J]. AUTOPHAGY, 2021, 17 (03) : 796 - 813
  • [9] Cardiac hypertrophy and arrhythmia in mice induced by a mutation in ryanodine receptor 2
    Alvarado, Francisco J.
    Bos, J. Martijn
    Yuchi, Zhiguang
    Valdivia, Carmen R.
    Hernandez, Jonathan J.
    Zhao, Yan-Ting
    Henderlong, Dawn S.
    Chen, Yan
    Booher, Talia R.
    Marcou, Cherisse A.
    Van Petegem, Filip
    Ackerman, Michael J.
    Valdivia, Hector H.
    [J]. JCI INSIGHT, 2019, 4 (07)
  • [10] Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction
    Amor-Salamanca, Almudena
    Santana Rodriguez, Alfredo
    Rasoul, Hazhee
    Rodriguez-Palomares, Jose F.
    Moldovan, Oana
    Hey, Thomas Morris
    Delgado, Maria Gallego
    Cuenca, David Lopez
    de Castro Campos, Daniel
    Basurte-Elorz, Maria Teresa
    Macias-Ruiz, Rosa
    Fuentes Canamero, Maria Eugenia
    Galvin, Joseph
    Bilbao Quesada, Raquel
    de la Higuera Romero, Luis
    Trujillo-Quintero, Juan Pablo
    Garcia-Cruz, Loida Maria
    Cardenas-Reyes, Ivonne
    Jimenez-Jaimez, Juan
    Garcia-Hernandez, Soledad
    Valverde-Gomez, Maria
    Gomez-Diaz, Iria
    Limeres Freire, Javier
    Garcia-Pinilla, Jose M.
    Gimeno-Blanes, Juan R.
    Savattis, Konstantinos
    Garcia-Pavia, Pablo
    Ochoa, Juan Pablo
    [J]. CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2024, 17 (02): : E004404