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Cardiogenetics, Volume 16, Issue 2

2026 June - 7 articles

Cover Story: In 1968, Dr. Jacqueline Noonan described a syndrome involving facial dysmorphism, short stature, webbed neck, and congenital heart defects. In 1971, the geneticist Dr. John Opitz decided to call it Noonan syndrome. Today, her syndrome is the prototype of RASopathies, namely disorders resulting from RAS/MAPK pathway dysregulation. This cascade directs cell proliferation, differentiation, survival, and metabolism. Germline mutations in PTPN11, SOS1, and RAF1 disrupt this balance, leading to overlapping phenotypes. Severity depends on specific variants and signaling intensity. This review connects Noonan's clinical insight to modern molecular genetics, emphasizing lifelong cardiologic care, a tribute to her legacy as a physician and researcher. View this paper

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Articles (7)

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Article

188 Views

18 Pages

Analysis of Copy Number and Sequence Variants Linked to Cardiac Development in Children with Syndromic Congenital Heart Defects

Tatjana Damnjanovic,
Nela Maksimovic,
Ana Djuranovic Uklein,
Brankica Bosankic,
Biljana Jekic,
Milka Grk,
Marija Dusanovic Pjevic,
Milica Rasic,
Natasa Stojanovski and
Dijana Perović
+ 3 authors

Cardiogenetics2026, 16(2), 13;https://doi.org/10.3390/cardiogenetics16020013

10 June 2026

Congenital heart defects (CHDs) are the most common congenital anomalies, with identifiable genetic etiologies in approximately 5–30% of affected infants, depending on the clinical presentation and comorbidities. This study included 216 childre...

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Article

327 Views

13 Pages

Evaluation of Classical and New Clinical Criteria for Diagnosing Familial Hypercholesterolemia in Childhood

Raffaele Buganza,
Giulia Massini,
Cecilia Nobili,
Martina Ferrandino,
Maria Donata Di Taranto,
Luisa de Sanctis and
Ornella Guardamagna

Cardiogenetics2026, 16(2), 12;https://doi.org/10.3390/cardiogenetics16020012

3 June 2026

Background: Heterozygous familial hypercholesterolemia (HeFH) is characterized by elevated low-density lipoprotein cholesterol (LDL-C) and increased cardiovascular risk, making early diagnosis essential; however, the diagnostic performance of pediatr...

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Review

1,007 Views

13 Pages

Noonan Syndrome: A Comprehensive Review from Clinical Delineation to the Molecular Era of RASopathies and Lifelong Cardiologic Management

Giuseppe Calcaterra,
Maria Giulia Gagliardi,
Carlo Bassano,
Rosalinda Palmieri,
Giuseppe Vadalà,
Pier Paolo Bassareo and
Marco Cappa

Cardiogenetics2026, 16(2), 11;https://doi.org/10.3390/cardiogenetics16020011

22 May 2026

Noonan syndrome (NS) is a paradigmatic rare, genetically heterogeneous, multisystem disorder belonging to the RASopathies family, caused by dysregulated RAS/MAPK signaling. It is characterized by distinctive craniofacial features, postnatal short sta...

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Article

647 Views

16 Pages

Beyond Wall Thickness: Clinical Predictors of Genotype Positivity in Hypertrophic Cardiomyopathy

Filippo Angelini,
Veronica Dusi,
Amedeo Maria Feneziani,
Rossella Manai,
Matteo Bianco,
Enrica Lonni,
Giulia Margherita Brach Del Prever,
Pier Paolo Bocchino,
Giuseppe Giannino and
Claudia Raineri
+ 14 authors

Cardiogenetics2026, 16(2), 10;https://doi.org/10.3390/cardiogenetics16020010

11 May 2026

Background: Genetic testing in hypertrophic cardiomyopathy (HCM) yields variable positivity rates. Identifying clinical predictors of positive genetic tests could improve pre-test counseling and refine expectations about diagnostic yield. Methods: We...

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Article

900 Views

19 Pages

Whole-Genome Sequencing in Premature Coronary Artery Disease in South Asians: A Pilot Case–Control Study

Iftikhar Ali Ch,
Azhar Chaudhry,
Fazal Jalil,
Yasir Ali,
Waseem Iqbal,
Yusra Javed,
Salman Khalid,
Azeen Razzaq,
Muhammad Azhar and
Khurram Nasir
+ 4 authors

Cardiogenetics2026, 16(2), 9;https://doi.org/10.3390/cardiogenetics16020009

29 April 2026

Background/Objectives: Coronary artery disease (CAD) remains the leading cause of mortality worldwide, with South Asia bearing a disproportionately high and rising burden, particularly at younger ages. The present study aimed to investigate genetic v...

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Review

766 Views

22 Pages

Genetic Basis of Cardiomyopathies Associated with Endocrinopathies: A Comprehensive Review

Antonio Concistrè,
Claudia Caramazza,
Marco D’Abbondanza,
Rachele Santori and
Giuseppe Imperoli

Cardiogenetics2026, 16(2), 8;https://doi.org/10.3390/cardiogenetics16020008

7 April 2026

Endocrine disorders are increasingly recognized as major contributors to secondary cardiomyopathies, leading to profound alterations in cardiac structure and function. This comprehensive review synthesizes current evidence on the genetic basis of car...

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Article

871 Views

18 Pages

Report on the Post-Translational Modifications (PTMs) Prediction in Hypertrophic Cardiomyopathy-Associated Proteins MYH7, MYBPC3, TNNT2, and TNNI3, and Five Unknown PTMs in MYH7 (K129, K1451) and MYBPC3 (K14, R44, T705)

Natasha Trajkovska,
Lenche Jovova and
Done Stojanov

Cardiogenetics2026, 16(2), 7;https://doi.org/10.3390/cardiogenetics16020007

2 April 2026

In this study, we have performed computational PTM analysis on a panel of hypertrophic cardiomyopathy (HCM)-associated proteins: MYH7, MYBPC3, TNNT2, and TNNI3. We aimed to benchmark the prediction of PTM sites of three ML-based tools: MusiteDeep, PT...

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Cardiogenetics - ISSN 2035-8148

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